1. Gene
  2. PRKN - parkin RBR E3 ubiquitin protein ligase Gene

PRKN - parkin RBR E3 ubiquitin protein ligase Gene

Homo sapiens

Also known as PDJ; AR-JP; LPRS2; PARK2

Gene ID: 5071 | Gene type: protein coding

About PRKN

Cytogenetic location: 6q26 Genomic coordinates (GRCh38): 6:161,347,417-162,727,766 (from NCBI)

This gene has 23 transcripts (splice variants), 224 orthologues, 9 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 3.6), kidney (RPKM 3.5) and 21 other tissues.

Summary

The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin Ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]

PRKN Products(3)

mRNA Protein Name
NM_004562.3 NP_004553.2 E3 ubiquitin-protein ligase parkin isoform 1
NM_013987.3 NP_054642.2 E3 ubiquitin-protein ligase parkin isoform 2
NM_013988.3 NP_054643.2 E3 ubiquitin-protein ligase parkin isoform 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables F-box domain binding IPI
IPI: Inferred from physical interaction
12628165 GOA
enables G protein-coupled receptor binding IPI
IPI: Inferred from physical interaction
12150907 GOA
enables Hsp70 protein binding IPI
IPI: Inferred from physical interaction
12150907 GOA
enables PDZ domain binding IPI
IPI: Inferred from physical interaction
17512523 GOA
enables actin binding IPI
IPI: Inferred from physical interaction
21753002 GOA
enables beta-catenin binding IDA
IDA: Inferred from direct assay
19591802 GOA
enables cullin family protein binding IDA
IDA: Inferred from direct assay
12628165 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
19725078 GOA
enables heat shock protein binding IPI
IPI: Inferred from physical interaction
12150907 GOA
enables histone deacetylase binding IPI
IPI: Inferred from physical interaction
21753002 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
21694720 GOA
enables kinase binding IPI
IPI: Inferred from physical interaction
17512523 GOA
enables phospholipase binding IPI
IPI: Inferred from physical interaction
19725078 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10888878 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
20798600 GOA
enables protein-containing complex binding IPI
IPI: Inferred from physical interaction
23453807 GOA
enables protein-folding chaperone binding IPI
IPI: Inferred from physical interaction
15603737 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
23985028 GOA
enables tubulin binding IPI
IPI: Inferred from physical interaction
21753002 GOA
enables ubiquitin binding IDA
IDA: Inferred from direct assay
24784582 GOA
enables ubiquitin conjugating enzyme binding IDA
IDA: Inferred from direct assay
10973942 GOA
enables ubiquitin conjugating enzyme binding IPI
IPI: Inferred from physical interaction
11439185 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
10973942 GOA
enables ubiquitin protein ligase activity IMP
IMP: Inferred from mutant phenotype
32047033 GOA
enables ubiquitin protein ligase binding IMP
IMP: Inferred from mutant phenotype
24751536 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
12150907 GOA
enables ubiquitin-protein transferase activity EXP
EXP: Inferred from Experiment
31358971 GOA
enables ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
11078524 GOA
enables ubiquitin-specific protease binding IPI
IPI: Inferred from physical interaction
24063750 GOA
Biological Process GO Annotation Evidence Reference Source
involved in aggresome assembly IMP
IMP: Inferred from mutant phenotype
14645198 GOA
involved in autophagy of mitochondrion IDA
IDA: Inferred from direct assay
25621951 GOA
involved in autophagy of mitochondrion IMP
IMP: Inferred from mutant phenotype
19029340 GOA
involved in cellular response to toxic substance IMP
IMP: Inferred from mutant phenotype
12628165 GOA
involved in free ubiquitin chain polymerization IMP
IMP: Inferred from mutant phenotype
24660806 GOA
involved in mitochondrion to lysosome vesicle-mediated transport IDA
IDA: Inferred from direct assay
24446486 GOA
involved in mitophagy IDA
IDA: Inferred from direct assay
23685073 GOA
involved in negative regulation by host of viral genome replication IDA
IDA: Inferred from direct assay
25244949 GOA
involved in negative regulation of actin filament bundle assembly IDA
IDA: Inferred from direct assay
17512523 GOA
involved in negative regulation of canonical Wnt signaling pathway IDA
IDA: Inferred from direct assay
19591802 GOA
involved in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
IDA: Inferred from direct assay
11439185 GOA
involved in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IMP
IMP: Inferred from mutant phenotype
10973942 GOA
involved in negative regulation of exosomal secretion IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
19725078 GOA
acts upstream of or within negative regulation of glucokinase activity IDA
IDA: Inferred from direct assay
24187134 GOA
acts upstream of or within negative regulation of insulin secretion IDA
IDA: Inferred from direct assay
24187134 GOA
involved in negative regulation of intralumenal vesicle formation IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator IMP
IMP: Inferred from mutant phenotype
23985028 GOA
involved in negative regulation of neuron apoptotic process IDA
IDA: Inferred from direct assay
12628165 GOA
involved in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
IDA: Inferred from direct assay
17314283 GOA
involved in negative regulation of primary amine oxidase activity IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in negative regulation of protein phosphorylation IDA
IDA: Inferred from direct assay
17512523 GOA
involved in negative regulation of reactive oxygen species metabolic process IGI
IGI: Inferred from genetic interaction
18541373 GOA
involved in negative regulation of release of cytochrome c from mitochondria IDA
IDA: Inferred from direct assay
19880420 GOA
involved in negative regulation of spontaneous neurotransmitter secretion IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
23985028 GOA
involved in positive regulation of DNA binding IDA
IDA: Inferred from direct assay
17314283 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IDA
IDA: Inferred from direct assay
17314283 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IMP
IMP: Inferred from mutant phenotype
23453807 GOA
involved in positive regulation of gene expression IMP
IMP: Inferred from mutant phenotype
19725078 GOA
involved in positive regulation of mitochondrial fusion IMP
IMP: Inferred from mutant phenotype
23453807 GOA
involved in positive regulation of mitophagy IDA
IDA: Inferred from direct assay
26310625 GOA
involved in positive regulation of neurotransmitter uptake IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in positive regulation of proteasomal protein catabolic process IGI
IGI: Inferred from genetic interaction
23858059 GOA
involved in positive regulation of protein binding IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in positive regulation of protein linear polyubiquitination IGI
IGI: Inferred from genetic interaction
23453807 GOA
involved in positive regulation of protein localization to membrane IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
23453807 GOA
involved in positive regulation of tumor necrosis factor-mediated signaling pathway IDA
IDA: Inferred from direct assay
23453807 GOA
involved in positive regulation of type 2 mitophagy IDA
IDA: Inferred from direct assay
20457763 GOA
involved in positive regulation of type 2 mitophagy IMP
IMP: Inferred from mutant phenotype
20871098 GOA
involved in proteasomal protein catabolic process IMP
IMP: Inferred from mutant phenotype
19725078 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
11439185 GOA
involved in protein K11-linked ubiquitination IDA
IDA: Inferred from direct assay
25621951 GOA
involved in protein K48-linked ubiquitination IDA
IDA: Inferred from direct assay
21376232 GOA
involved in protein K6-linked ubiquitination IDA
IDA: Inferred from direct assay
25621951 GOA
involved in protein K63-linked ubiquitination IDA
IDA: Inferred from direct assay
15728840 GOA
involved in protein autoubiquitination IDA
IDA: Inferred from direct assay
12628165 GOA
involved in protein destabilization IDA
IDA: Inferred from direct assay
19591802 GOA
involved in protein monoubiquitination IDA
IDA: Inferred from direct assay
20889974 GOA
involved in protein monoubiquitination IMP
IMP: Inferred from mutant phenotype
24660806 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
12150907 GOA
involved in protein polyubiquitination IMP
IMP: Inferred from mutant phenotype
32047033 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
19229105 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
10973942 GOA
involved in protein ubiquitination IMP
IMP: Inferred from mutant phenotype
23933751 GOA
involved in regulation of autophagy IDA
IDA: Inferred from direct assay
20889974 GOA
involved in regulation of cellular response to oxidative stress IDA
IDA: Inferred from direct assay
24446486 GOA
involved in regulation of cellular response to oxidative stress IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in regulation of dopamine metabolic process IMP
IMP: Inferred from mutant phenotype
22314364 GOA
involved in regulation of mitochondrion organization IDA
IDA: Inferred from direct assay
21113145 GOA
involved in regulation of mitochondrion organization IGI
IGI: Inferred from genetic interaction
19279012 GOA
involved in regulation of protein stability IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in regulation of protein ubiquitination IGI
IGI: Inferred from genetic interaction
23212910 GOA
involved in regulation of protein ubiquitination IMP
IMP: Inferred from mutant phenotype
20871098 GOA
involved in regulation of reactive oxygen species metabolic process IMP
IMP: Inferred from mutant phenotype
18541373 GOA
involved in response to endoplasmic reticulum stress IMP
IMP: Inferred from mutant phenotype
21113145 GOA
involved in type 2 mitophagy IDA
IDA: Inferred from direct assay
19029340 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
12925569 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
17097639 GOA
part of Parkin-FBXW7-Cul1 ubiquitin ligase complex IPI
IPI: Inferred from physical interaction
12628165 GOA
NOT part of SCF ubiquitin ligase complex IDA
IDA: Inferred from direct assay
12628165 GOA
located in aggresome IDA
IDA: Inferred from direct assay
14645198 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
17512523 GOA
located in cytosol IDA
IDA: Inferred from direct assay
19029340 GOA
located in cytosol IMP
IMP: Inferred from mutant phenotype
21508222 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
12150907 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
18957282 GOA
colocalizes with mitochondrion IMP
IMP: Inferred from mutant phenotype
21508222 GOA
located in mitochondrion IMP
IMP: Inferred from mutant phenotype
19029340 GOA
colocalizes with mitochondrion-derived vesicle IDA
IDA: Inferred from direct assay
24446486 GOA
located in neuron projection IDA
IDA: Inferred from direct assay
12925569 GOA
located in nucleus IDA
IDA: Inferred from direct assay
23985028 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
17097639 GOA
part of ubiquitin ligase complex IDA
IDA: Inferred from direct assay
12150907 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRKN Protein Structure

ubiquitin

ubiquitin: Ubiquitin family (12 - 73)

IBR

IBR: IBR domain, a half RING-finger domain (328 - 376)

IBR

IBR: IBR domain, a half RING-finger domain (411 - 455)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 465 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase parkin

Parkinson disease (autosomal recessive, juvenile) 2, parkin

Related Diseases

Diseases Alias
Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease

PARK2

Pdj

Autosomal Recessive Juvenile Parkinson Disease 2

Epdf

Parkinson Disease, Juvenile, Type 2

Parkinson'S Disease 2

Autosomal Recessive Juvenile Parkinson Disease

Early-Onset Parkinson Disease

Parkinson Disease 2

Parkinson Disease, Juvenile, Autosomal Recessive

Parkinsonism, Early-Onset, With Diurnal Fluctuation

Autosomal Recessive Juvenile Parkinson'S Disease 2

Jp

Juvenile Parkinsonism

Parkinson Disease Autosomal Recessive, Early Onset

Parkinsonism, Early Onset, With Diurnal Fluctuation

Yopd

Autosomal Recessive Early-Onset Parkinson Disease Type 2

Chromosome 6-Linked Autosomal Recessive Parkinsonism

Early-Onset Parkinsonism With Diurnal Fluctuation

Parkinsonism Young Adult Onset

Parkinson Disease, Type 2

Parkinsonism, Juvenile

Leprosy 2

Leprosy, Susceptibility To, 2

LPRS2

Leprosy, Type 2

Leprosy

Parkin Type Of Early-Onset Parkinson Disease

Park-Parkin

Prkn Parkinson Disease

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Lung Cancer Susceptibility 3

Lung Adenocarcinoma

Adenocarcinoma Of Lung

LNCR3

Adenocarcinoma Of Lung, Susceptibility To

Bronchogenic Lung Adenocarcinoma

Nonsmall Cell Adenocarcinoma

Adenocarcinoma Lung

Lung Adenocarcinomas

Non-Small Cell Adenocarcinoma

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Paratyphoid Fever

Paratyphoid B Fever

Paratyphoid C Fever

Paratyphoid Fever A

Paratyphoid Fever B

Paratyphoid Fever C

Paratyphoid

Paratyphoid A

Paratyphoid A Fever

Paratyphoid B

Paratyphoid C

Infection Due To Salmonella Paratyphi

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Parkinson Disease 3, Autosomal Dominant

PARK3

Parkinson Disease 3

Parkinson Disease 3, Autosomal Dominant Lewy Body

Parkinson'S Disease 3

Autosomal Dominant Lewy Body Parkinson Disease 3

Autosomal Dominant Parkinson Disease 3

Parkinson Disease Type 3

Autosomal Dominant Parkinson Disease

Parkinson Disease, Autosomal Dominant

Parkinson Disease, Familial, Type 1

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Movement Disease

Movement Disorders

Movement Disorder

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy

Steele-Richardson-Olszewski Syndrome

Supranuclear Palsy, Progressive

Progressive Supranuclear Ophthalmoplegia

Psp

PSNP1

Familial Progressive Supranuclear Palsy

Richardson'S Syndrome

Psp Syndrome

Progressive Supranuclear Palsy 1

Supranuclear Palsy Progressive

Ophthalmoplegia, Supranuclear, Progressive

Steele-Richardson-Olszewksi Syndrome

Multiple System Atrophy 1

Multiple System Atrophy

Shy-Drager Syndrome

Msa

MSA1

Multiple System Atrophy 1, Susceptibility To

Sporadic Olivopontocerebellar Atrophy

Multisystem Atrophy

Msa1, Susceptibility To

Multiple System Atrophy, Susceptibility To

Opca

Progressive Autonomic Failure With Multiple System Atrophy

Sds

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Juvenile-Onset Parkinson'S Disease

Juvenile-Onset Parkinson Disease

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Sarcotubular Myopathy

Lgmd2h

Muscular Dystrophy, Limb-Girdle, Type 2h

Limb-Girdle Muscular Dystrophy Type 2h

LGMDR8

Muscular Dystrophy Hutterite Type

Muscular Dystrophy, Hutterite Type

Muscular Dystrophy Limb-Girdle Type 2h

Trim32-Related Limb-Girdle Muscular Dystrophy R8

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Lgmd Due To Trim32 Deficiency

Lgmd Type 2h

Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

Trim32-Related Lgmd R8

Limb-Girdle Muscular Dystrophy 2h

Dystrophy, Muscular, Limb-Girdle, Type 2h

Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Parkinson Disease 15, Autosomal Recessive Early-Onset

Parkinsonian-Pyramidal Syndrome

Pallidopyramidal Syndrome

Parkinson Disease 15, Autosomal Recessive

PARK15

Pkps

Pallido-Pyramidal Syndrome

Parkinson'S Disease 15

Autosomal Recessive Early-Onset Parkinson Disease 15

Autosomal Recessive Early-Onset Parkinson'S Disease 15

Pallido-Pyramidal Disease

Parkinson Disease 15

Parkinson Disease 15 Autosomal Recessive

Pps

Parkinson Disease, Type 15

Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Postencephalitic Parkinson Disease

Postencephalitic Parkinsonism

Parkinson Disease, Postencephalitic

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Focal Dystonia

Dystonia, Focal, Task-Specific

Dystonia 12

DYT12

Rdp

Generalized Dystonia

Dystonia-12

Rapid-Onset Dystonia-Parkinsonism

Familial Dystonia

Dystonia Musculorum Deformans

Dystonic Disorders

Idiopathic Familial Dystonia

Dystonia-Parkinsonism, Rapid-Onset

Fragments Of Torsion Dystonia

Dyt-Atp1a3

Rapid-Onset Dystonia Parkinsonism

Rodp

Dystonia, Type 12

Dystonia 3, Torsion, X-Linked

Idiopathic Non-Familial Dystonia

Symptomatic Torsion Dystonia

Dystonia Disorders

Vascular Parkinsonism
Parkinson Disease 21

PARK21

Parkinson'S Disease 21

Parkinson Disease, Type 21

Kufor-Rakeb Syndrome

Park9

Krppd

KRS

Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia

Autosomal Recessive Parkinson Disease 9

Parkinson Disease 9

Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset

Autosomal Recessive Juvenile Onset Parkinson Disease 9

Parkinson Disease Type 9

Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia

Park 9

Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis

Cln12 Disease

Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis

Parkinson Disease Autosomal Recessive 9

Meier-Gorlin Syndrome 3

MGORS3

Meier-Gorlin Syndrome, Type 3

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Polyneuropathy

Polyneuropathies

Rem Sleep Behavior Disorder

Rapid Eye Movement Sleep Behavior Disorder

Rem Sleep Behaviour Disorder

Rapid Eye Movement Sleep Behaviour Disorder

Rem - [Rapid Eye Movement] Behaviour Disorder

Leprosy 3

Leprosy

Leprosy, Susceptibility To, 3

Hansen'S Disease

Leprosy, Susceptibility To

Hansen Disease

Infection Due To Mycobacterium Leprae

LPRS3

Leprosy, Type 3

Anaesthesia Leprosy

Anaesthetic Leprosy

Maculoanaesthetic Leprosy

Macular Leprosy

Leprosy Unspecified

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Gaucher Disease, Type I

Glucocerebrosidase Deficiency

Acid Beta-Glucosidase Deficiency

Gba Deficiency

GD1

Gd I

Gaucher Disease, Noncerebral Juvenile

Gaucher Disease Type 1

Gaucher Disease Type I

Gaucher'S Disease Type I

Gaucher Disease

Gd 1

Non-Cerebral Juvenile Gaucher Disease

GD

Gaucher Disease 1

Adult Non-Neuronopathic Gaucher Disease

Noncerebral Juvenile Gaucher Disease

Type 1 Gaucher Disease

Gaucher Disease, Type 1

Alzheimer Disease 3

AD3

Alzheimer Disease, Type 3

Alzheimer Disease, Type 3, With Spastic Paraparesis And Apraxia

Alzheimer Disease, Type 3, With Spastic Paraparesis And Unusual Plaques

Alzheimer'S Disease 3

Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Apraxia

Alzheimer Disease 3, Early-Onset

Alzheimer Disease, Familial, 3

Alzheimer Disease, Protection Against, Due To Apoe3-Christchurch

Alzheimer Disease 3, Early Onset

Alzheimer Disease Familial 3

Early-Onset Familial Alzheimer Disease 3

Familial Alzheimer Disease 3

Familial Alzheimer Disease 3 With Spastic Paraparesis And Apraxia

Familial Alzheimer Disease 3 With Spastic Paraparesis And Unusual Plaques

Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Unusual Plaques

Alzheimer Disease, Familial, Type 3

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Toxic Encephalopathy

Neurotoxicity

Neurotoxicity Syndromes

Neurotoxicity Syndrome

Encephalopathy, Toxic

Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Sphingolipidosis

Sphingolipidoses

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Meier-Gorlin Syndrome 2

MGORS2

Meier-Gorlin Syndrome, Type 2

Epilepsy, Idiopathic Generalized 9

Epilepsy, Idiopathic Generalized, Susceptibility To, 9

EIG9

Epilepsy, Juvenile Myoclonic 6

Idiopathic Generalized Epilepsy 9

Epilepsy, Juvenile Myoclonic, Susceptibility To, 6

Susceptibility To Idiopathic Generalized Epilepsy 9

Juvenile Myoclonic Epilepsy 6

EJM6

Susceptibility To Juvenile Myoclonic Epilepsy 6

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Choreatic Disease

Chorea

Hereditary Chorea

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Myopathy

Muscular Diseases

Myopathies

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PRKN RGD RGD:61797
Bos taurus PRKN VGNC VGNC:33342
Macaca mulatta PRKN VGNC VGNC:76364
Mus musculus PRKN MGD MGI:1355296
Felis catus PRKN VGNC VGNC:102495
Canis familiaris PRKN VGNC VGNC:82293
Others PRKN NCBI