PANK2 - pantothenate kinase 2 Gene

Homo sapiens

Also known as HSS; HARP; PKAN; NBIA1; C20orf48

Gene ID: 80025 | Gene type: protein coding

About PANK2

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,888,781-3,929,887 (from NCBI)

This gene has 12 transcripts (splice variants), 204 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.1) and 25 other tissues.

Summary

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory Enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

PANK2 Products(7)

mRNA	Protein	Name
NM_001324191.2	NP_001311120.1	pantothenate kinase 2, mitochondrial isoform 2
NM_001324192.1	NP_001311121.1	pantothenate kinase 2, mitochondrial isoform 5
NM_001324193.2	NP_001311122.1	pantothenate kinase 2, mitochondrial isoform 6
NM_001386393.1	NP_001373322.1	pantothenate kinase 2, mitochondrial isoform 7 precursor
NM_024960.6	NP_079236.3	pantothenate kinase 2, mitochondrial isoform 2
NM_153638.4	NP_705902.2	pantothenate kinase 2, mitochondrial isoform 1 precursor
NM_153640.4	NP_705904.1	pantothenate kinase 2, mitochondrial isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables pantothenate kinase activity	IMP IMP: Inferred from mutant phenotype	15659606	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in angiogenesis	IMP IMP: Inferred from mutant phenotype	30221726	GOA
involved in regulation of bile acid metabolic process	IMP IMP: Inferred from mutant phenotype	22221393	GOA
involved in regulation of fatty acid metabolic process	IMP IMP: Inferred from mutant phenotype	22221393	GOA
involved in regulation of triglyceride metabolic process	IMP IMP: Inferred from mutant phenotype	22221393	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	23152917	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15659606	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23152917	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

PANK2 Protein Structure

Fumble

0
100
200
300
400
500
570 a.a.

Protein Preferred Names

Protein Names

pantothenate kinase 2, mitochondrial

Hallervorden-Spatz syndrome

PANK2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PANK2	Q9BZ23	YWHAZ	Homo sapiens	P63104	Pull Down	15161933

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neurodegeneration With Brain Iron Accumulation 1

Pantothenate Kinase-Associated Neurodegeneration	Pkan
NBIA1	Hallervorden-Spatz Disease
Hallervorden-Spatz Syndrome	Pigmentary Pallidal Degeneration
Neuroaxonal Dystrophy, Late Infantile	Neurodegeneration With Brain Iron Accumulation Type 1
Classic Pantothenate Kinase-Associated Neurodegeneration	Pkan Neuroaxonal Dystrophy, Juvenile-Onset
Brain Iron Accumulation Type I Syndrome	Nbia
Neurodegeneration With Brain Iron Accumulation	Nbia1, Classic Form
Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form	Pkan, Classic Form
Atypical Pantothenate Kinase-Associated Neurodegeneration	Nbia1, Atypical Form
Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form	Pkan, Atypical Form
Hss	Pkan Neuroaxonal Dystrophy Juvenile-Onset
Neurodegeneration, With Brain Iron Accumulation, Type 1

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration

Harp Syndrome

HARP

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

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

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Neurodegeneration With Brain Iron Accumulation 3

Neuroferritinopathy	NBIA3
Ferritin-Related Neurodegeneration	Hereditary Ferritinopathy
Basal Ganglia Disease, Adult-Onset	Adult Basal Ganglia Disease
Neuroferritinopathy	Basal Ganglia Disease, Adult-Onset
Basal Ganglia Disease Adult-Onset	Adult-Onset Basal Ganglia Disease
Neurodegeneration, With Brain Iron Accumulation, Type 3

Neurodegeneration With Brain Iron Accumulation 2b

NBIA2B	Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Neuroaxonal Dystrophy, Atypical	Karak Syndrome
Atypical Neuroaxonal Dystrophy	Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
Neurodegeneration, With Brain Iron Accumulation, Type 2b	Neurodegeneration With Brain Iron Accumulation 2

Neurodegeneration With Brain Iron Accumulation 2a

Infantile Neuroaxonal Dystrophy	Plan
Seitelberger Disease	Inad
Infantile Neuroaxonal Dystrophy 1	Inad1
Pla2g6-Associated Neurodegeneration	NBIA2A
Neuroaxonal Dystrophy, Infantile	Neurodegeneration, Pla2g6-Associated
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	Phospholipase A2-Associated Neurodegeneration
Nbia2	Pla2g6-Related Disorders
Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy	Karak Syndrome, Included
Nbia2b	Neuroaxonal Dystrophy, Atypical
Neurodegeneration With Brain Iron Accumulation 2b	Nbia, Pla2g6-Related
Seitelberger'S Disease	Neurodegeneration Pla2g6-Associated
Dystrophy, Neuroaxonal, Infantile	Neurodegeneration, With Brain Iron Accumulation, Type 2a
Neuroaxonal Dystrophies	Neurodegeneration With Brain Iron Accumulation 2

Neurodegeneration With Brain Iron Accumulation 6

NBIA6	Copan
Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation	Coasy Protein-Associated Neurodegeneration
Neurodegeneration, With Brain Iron Accumulation, Type 6

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

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

Movement Disease

Movement Disorders

Movement Disorder

Oromandibular Dystonia

Hereditary Spastic Paraplegia 35

Autosomal Recessive Spastic Paraplegia Type 35	Spg35
Autosomal Recessive Spastic Paraplegia 35	Fahn
Fatty Acid Hydroxylase-Associated Neurodegeneration	Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Neurodegeneration With Brain Iron Accumulation 4

NBIA4	Mpan
Mitochondrial Protein-Associated Neurodegeneration	Nbia Due To C19orf12 Mutation
Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation	Neurodegeneration With Brain Iron Accumulation Type 4
Mitochondrial Membrane Protein Associated Neurodegeneration	Neurodegeneration, With Brain Iron Accumulation, Type 4

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Neuroaxonal Dystrophy

Neuroaxonal Dystrophies

Neurodegeneration With Brain Iron Accumulation 5

NBIA5	Beta-Propeller Protein-Associated Neurodegeneration
Bpan	Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Senda	Neurodegeneration With Brain Iron Accumulation Type 5
Neurodegeneration With Brain Iron Accululation 5	Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
Neurodegeneration, With Brain Iron Accululation, Type 5

Non-Syndromic X-Linked Intellectual Disability 2

Mrx2

Retinal Degeneration

Degeneration Of Retina

Choreoacanthocytosis

Chorea-Acanthocytosis	CHAC
Acanthocytosis With Neurologic Disorder	Levine-Critchley Syndrome
Choreaacanthocytosis	Chorea Acanthocytosis
Neuroacanthocytosis	Levine-Critchley Syndrome, Formerly
Neuroacanthocytosis, Formerly	Choreo-Acanthocytosis
Acanthocytosis Chorea	Chorea Acanthocytosis Syndrome

Neuroacanthocytosis

Neuroacanthocytosis Syndrome

Mcleod Syndrome

Mcleod Neuroacanthocytosis Syndrome	MLS
X-Linked Mcleod Syndrome	Mcleod Phenotype
Neuroacanthocytosis, Mcleod Type	Mcleod Syndrome With Or Without Chronic Granulomatous Disease
MCLDS	Mcleod Type Neuroacanthocytosis
Mcleod Syndrome With Chronic Granulomatous Disease	Neuroacanthocytosis Mcleod Type
Blood Group Deletion Syndrome

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens	CBAVD
Cavd	Congenital Bilateral Aplasia Of Vas Deferens
Congenital Bilateral Absence Of The Vas Deferens	Congenital Bilateral Agenesis Of Vas Deferens
Absence Of Vas Deferens	Absent Vasa
Congenital Absence Of Vas Deferens	Congenital Aplasia Of Vas Deferens
Absent Vas Deferens	Vas Deferens, Congenital Bilateral Absence

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

Mitochondrial Complex I Deficiency, Nuclear Type 16

MC1DN16	Nuclear Type Mitochondrial Complex I Deficiency 16
Mitochondrial Complex 1 Deficiency, Nuclear Type 16

Focal Dystonia

Dystonia, Focal, Task-Specific

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

Iron Metabolism Disease

Iron Deficiency	Iron Disorder
Iron Metabolism Disorders	Disorder Of Iron Metabolism
Iron	Fe Deficiency
Iron Storage Disease	Iron Storage Disorder

Blepharospasm

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Spasmodic Dystonia

Laryngeal Dystonia

Hemochromatosis, Type 3

Hemochromatosis Type 3	HFE3
Hemochromatosis Due To Defect In Transferrin Receptor 2	Tfr2-Related Hemochromatosis
Tfr2-Related Hereditary Hemochromatosis	Hemochromatosis 3

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

Cervical Dystonia

Spasmodic Torticollis

Lingual-Facial-Buccal Dyskinesia

Orofacial Dyskinesia	Oro-Facial Dyskinesia
Dyskinesias

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy	Arnd
Encephalopathy, Static	Alcohol Related Neurodevelopmental Disorder

Choreatic Disease

Chorea

Hereditary Chorea

Huntington Disease-Like 2

HDL2	Huntington'S Disease-Like 2
Huntington Disease-Like, Type 2

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Basal Ganglia Calcification

Fahr'S Syndrome	Fahr'S Disease
Fahr Disease

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-124634	PZ-2891	Modulator	99.38%	Unkown
HY-RS10017	PANK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PANK2	VGNC	VGNC:32564
Mus musculus	PANK2	MGD	MGI:1921700
Macaca mulatta	PANK2	VGNC	VGNC:75614
Rattus norvegicus	PANK2	RGD	RGD:1305169
Canis familiaris	PANK2	VGNC	VGNC:54724