SPTBN2 - spectrin beta, non-erythrocytic 2 Gene

Homo sapiens

Also known as SCA5; SCAR14; GTRAP41

Gene ID: 6712 | Gene type: protein coding

About SPTBN2

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,682,497-66,744,682 (from NCBI)

This gene has 12 transcripts (splice variants), 199 orthologues, 36 paralogues and is associated with 6 phenotypes. Biased expression in skin (RPKM 16.1), testis (RPKM 12.4) and 8 other tissues.

Summary

Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]

SPTBN2 Products(2)

mRNA	Protein	Name
NM_001411025.1	NP_001397954.1	spectrin beta chain, non-erythrocytic 2 isoform 2
NM_006946.4	NP_008877.2	spectrin beta chain, non-erythrocytic 2 isoform 1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in vesicle-mediated transport	IDA IDA: Inferred from direct assay	9826670	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of spectrin	IDA IDA: Inferred from direct assay	9826670	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

SPTBN2 Protein Structure

Spectrin

PH_9

0
400
800
1200
1600
2000
2390 a.a.

Protein Preferred Names

Protein Names

spectrin beta chain, non-erythrocytic 2

beta-III spectrin

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5	SCA5
Spinocerebellar Ataxia-5	Ataxia, Spinocerebellar, Type 5

Spinocerebellar Ataxia, Autosomal Recessive 14

Autosomal Recessive Spinocerebellar Ataxia 14	SCAR14
Sparca1	Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur
Autosomal Recessive Spinocerebellar Ataxia Type 14	Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome
Sparca	Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1
Spinocerebellar Ataxia, Autosomal Recessive, 14	Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14

Epidemic Typhus

Typhus	Typhus Fever
Epidemic Louse-Borne Typhus Fever Due To Rickettsia Prowazekii	Murine Typhus
Classical Typhus	Endemic Flea-Borne Typhus
Endemic Typhus Fever	Epidemic Louse-Borne Typhus
Famine Fever	Flea-Borne Typhus
Jail Fever	Louse-Borne Typhus
Mexican Typhus	Shop Typhus
Urban Typhus	Brill-Zinsser Disease
Endemic Typhus	Sylvatic Typhus
Epidemic Typhus	European Typhus
Exanthematic Typhus Fever	Exanthematous Typhus
Flea Typhus	Flea-Borne Rickettsiosis
Hospital Fever	Louse-Borne [Epidemic] Typhus
Louse-Borne Rickettsiosis	Moscow Typhus
Murine [Endemic] Typhus	Petechial Fever
Prison Fever	Rat Flea Typhus
Ship Fever	Typhus Exanthematique
Typhus, Endemic Flea-Borne	Typhus, Epidemic Louse-Borne
Typhus Group Rickettsial Disease	Relapsing Fever
Typhus Fever Nos	Typhus Nos
Epidemic Typhus Fever	Louse-Borne Typhus Fever
Classical Typhus Fever	Louse-Borne Tabardillo
Epidemic Typhus Fever Due To Rickettsia Prowazekii	Endemic Murine Typhus
Flea-Borne Typhus Fever	Murine Endemic Flea Typhus
Rat Typhus	Typhus Due To Rickettsia Typhi
Flea-Borne Tabardillo	Rickettsia Typhi Rickettsiosis
Mexican Fever	Murine Flea-Borne Typhus
Mooser Bodies	Tsutsugamushi Fever
Kedani Fever	Mite-Borne Typhus
Mite-Borne Typhus Due To Rickettsia Tsutsugamushi	Scrub Typhus
Tsutsugamushi	Tsutsugamushi Disease
Scrub Mite-Borne Typhus	Sumatran Mite Fever
Japanese River Fever	Kedani Typhus
Rickettsia Tsutsugamushi Rickettsiosis	Sumatran Mite Typhus
Tropical Typhus	Japanese Typhus

Cerebral Palsy, Ataxic, Autosomal Recessive

Ataxic Cerebral Palsy	Acp
Hypotonic Cerebral Palsy	Cerebral Palsy Ataxic
Cerebral Palsy, Atonic	Congenital Cerebral Palsy With Ataxia
Ataxic Cerebral Paralysis	Ataxia With Cerebral Palsy
Cerebral Infantile Diataxia

Rocky Mountain Spotted Fever

Brazillian Spotted	Choix
Exanthematic Typhus Of Sao Paulo	Fiebre Maculosa
Fiebre Manchada	Sao Paulo Typhus
So Paulo Fever	Tick Typhus
Tobia Fever	Rmsf
Typhus, Tick

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Brill-Zinsser Disease

Recrudescent Typhus	Brill Disease
Brill Zinsser Disease	Brill'S Disease
Latent Typhus	Sporadic Typhus
Typhus, Epidemic Louse-Borne	Recrudescent Typhus Due To Rickettsia Prowazekii
Recrudescent Typhus Fever	Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii
Recrudescent Brill Disease	Recrudescent Typhus Fever Due To Rickettsia Prowazekii

Spinocerebellar Ataxia, Autosomal Recessive 8

Arca1	Autosomal Recessive Cerebellar Ataxia Type 1
SCAR8	Autosomal Recessive Spinocerebellar Ataxia 8
Autosomal Recessive Ataxia, Beauce Type	Recessive Ataxia Of Beauce
Syne1-Related Autosomal Recessive Cerebellar Ataxia	Ataxia, Recessive, Of Beauce
Cerebellar Ataxia, Autosomal Recessive, Type 1	Spinocerebellar Ataxia Autosomal Recessive 8
Autosomal Recessive Ataxia Beauce Type	Spinocerebellar Ataxia, Autosomal Recessive, 8
Ataxia Recessive Of Beauce	Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Endemic Typhus

Murine Typhus	Cat Flea Rickettsiosis
Fleaborne Typhus	Rat-Flea Typhus
Rickettsia Felis Spotted Fever	Shop Typhus
Toulon Typhus	Urban Typhus
Urban Typhus Of Malaya	Flea-Borne Typhus
Endemic Flea-Borne Typhus

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

Spinocerebellar Ataxia 4

Spinocerebellar Ataxia Type 4	SCA4
Spinocerebellar Ataxia, Autosomal Dominant, With Sensory Axonal Neuropathy	Spinocerebellar Ataxia Autosomal Dominant With Sensory Axonal Neuropathy
Spinocerebellar Ataxia-4	Spinocerebellar Ataxias

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Spinocerebellar Ataxia 20

Spinocerebellar Ataxia Type 20	SCA20
Spinocerebellar Ataxia With Dysphonia	Spinocerebellar Ataxia With Spasmodic Cough
Chromosome 11q12 Duplication Syndrome, 260-Kb	Chromosome 11q12 Duplication Syndrome 260-Kb

Episodic Ataxia, Type 6

Episodic Ataxia Type 6	EA6
Episodic Ataxia 6	Ea-6
Ataxia, Episodic, Type 6

Cerebellar Ataxia Type 48

Sca48

African Tick-Bite Fever

Rickettsia Africae Spotted Fever	South African Tick-Bite Fever
African Tick Bite Fever

Developmental And Epileptic Encephalopathy 5

Epileptic Encephalopathy, Early Infantile, 5	DEE5
Eiee5	Developmental And Epileptic Encephalopathy, 5
Early Infantile Epileptic Encephalopathy 5	Encephalopathy, Epileptic, Early Infantile, Type 5

Spinocerebellar Ataxia, X-Linked 1

X-Linked Progressive Cerebellar Ataxia	SCAX1
Opcax	X-Linked Spinocerebellar Ataxia 1
Olivopontocerebellar Atrophy, X-Linked	Opca, X-Linked
Olivopontocerebellar Atrophy X-Linked	Opca X-Linked
Ataxia, Spinocerebellar, X-Linked Type 1

Spinocerebellar Ataxia 15

SCA15	Spinocerebellar Ataxia Type 15
Spinocerebellar Ataxia Type 16	Sca16
Spinocerebellar Ataxia Type 15/16	Spinocerebellar Ataxia 16, Formerly
Sca16, Formerly	Spinocerebellar Ataxia 16
Sca15/16	Ataxia, Spinocerebellar, Type 15

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1

PEOA1	Autosomal Dominant Progressive External Ophthalmoplegia 1
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1	Chronic Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia, Autosomal Dominant 1	Cpeo
Graefe Disease	Mitochondrial Ocular Myopathy
Ocular Myopathy Of Von Graefe-Fuchs	Progressive External Ophthalmoplegia Autosomal Dominant
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1	Kearns-Sayre Syndrome

Spastic Paraplegia 41, Autosomal Dominant

SPG41	Hereditary Spastic Paraplegia 41
Autosomal Dominant Spastic Paraplegia Type 41	Autosomal Dominant Spastic Paraplegia 41

Spotted Fever

Spotted Fevers	Spotted Fever Group Rickettsial Disease
Tick-Borne Rickettsioses	Tick-Borne Typhus Nos
Rocky Mountain Spotted Fever	Sao Paulo Fever
Sao Paulo Typhus	Lone Star Spotted Fever
Colombian Spotted Fever	American Spotted Fever
Tick Typhus Due To Rickettsia Rickettsii	Rocky Mountain Tick Fever
Boutonneuse Fever	Mediterranean Tick Fever
Fièvre Boutonneuse	Mediterranean Spotted Fever
Tick Typhus Due To Rickettsia Conorii	African Tick Typhus
Indian Tick Typhus	Kenya Tick Typhus
North Asian Tick Fever	Siberian Tick Typhus
Tick Typhus Due To Rickettsia Siberica	North Asian Spotted Fever
Queensland Tick Typhus	Queensland Fever

Boutonneuse Fever

Mediterranean Spotted Fever	African Tick Typhus
Boutonneuse Disease	Conor And Bruch'S Disease
Kenya Fever	Kenya Tick Typhus
Kenyan Tick Typhus	Marseilles Fever
Mediterranean Tick Fever	Rickettsia Conorii Spotted Fever
South African Tick-Bite Fever	African Tick Bite Fever

Queensland Tick Typhus

Australian Tick Typhus	North Queensland Tick Typhus
Rickettsia Australis Spotted Fever

Spinocerebellar Ataxia 13

Spinocerebellar Ataxia Type 13	SCA13
Autosomal Dominant Cerebellar Ataxia With Intellectual Disability	Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability
Spinocerebellar Ataxia-13	Ataxia, Spinocerebellar, Type 13

X-Linked Cerebellar Ataxia

Peripheral Nerve Schwannoma

Optic Atrophy 9

OPA9	Atrophy, Optic, Type 9

Spinocerebellar Ataxia, Autosomal Recessive 17

Autosomal Recessive Spinocerebellar Ataxia 17	SCAR17
Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency	Spinocerebellar Ataxia Autosomal Recessive Type 17
Spinocerebellar Ataxia, Autosomal Recessive, 17	Ataxia, Spinocerebellar, Autosomal Recessive, Type 17

Cerebellar Ataxia Type 47

Sca47

Israeli Tick Typhus

Israeli Spotted Fever

Cerebellar Ataxia Type 43

Sca43

Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation

Lymphedema, Microcephaly And Chorioretinopathy Syndrome	Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability
MCLMR	Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome
Mlcrd Syndrome	Cdmmr Syndrome
Lymphedema And Retinal Folds With Microcephaly And Microphthalmos	Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome
Microcephaly Lymphedema Chorioretinal Dysplasia	Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant
Lymphedema, Microcephaly, Chorioretinopathy Syndrome	Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos
Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome	Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Mlcrd	Lymphedema Microcephaly Chorioretinopathy Syndrome
Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome	Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability
Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Spastic Paraplegia 8, Autosomal Dominant

SPG8	Hereditary Spastic Paraplegia 8
Autosomal Dominant Spastic Paraplegia Type 8	Autosomal Dominant Spastic Paraplegia 8
Paraplegia, Spastic, Autosomal Dominant, Type 8

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Olivopontocerebellar Atrophy

Thomas Syndrome	Olivopontocerebellar Atrophies
Dejerine-Thomas Syndrome	Thomas' Syndrome
Wadia-Swami Syndrome	Opca
Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome	Spinocerebellar Ataxia Type 2

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Dentatorubral-Pallidoluysian Atrophy

DRPLA	Naito-Oyanagi Disease
Haw River Syndrome	Myoclonic Epilepsy With Choreoathetosis
Nod	Ataxia, Chorea, Seizures, And Dementia
Dentatorubropallidoluysian Atrophy	Hrs
Naito Oyanagi Disease	Dentatorubral Pallidoluysian Atrophy
Dentatorubro-Pallidoluysian Atrophy	Myoclonic Epilepsies, Progressive
Atrophy, Pallidoluysian, Dentatorubral

Spinocerebellar Ataxia 23

Spinocerebellar Ataxia Type 23	SCA23
Ataxia, Spinocerebellar, Type 23

Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome	Infantile Onset Spinocerebellar Ataxia
Iosca	Infantile-Onset Spinocerebellar Ataxia
Spinocerebellar Ataxia 8	MTDPS7
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis	Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
Sca8	Spinocerebellar Ataxia Infantile With Sensory Neuropathy
Spinocerebellar Ataxia, Infantile-Onset	Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy	Spinocerebellar Ataxia 8, Formerly
Sca8, Formerly	Iosca, Mitochondrial Dna Depletion Syndrome 7
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
Mtdna Depletion Syndrome, Hepatocerebrorenal Form	Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis	Pure Spinocerebellar Ataxia Japanese Type
Sca4 Pure Japanese Type	Spinocerebellar Ataxia Infantile-Onset
Mitochondrial Dna Depletion Syndrome , Type 7

Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures

OPA10	Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
Optic Atrophy 10	Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

Episodic Ataxia, Type 2

Episodic Ataxia Type 2	EA2
Apca	Capa
Cerebellopathy, Hereditary Paroxysmal	Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive	Episodic Ataxia With Nystagmus
Ataxia, Episodic, With Nystagmus	Episodic Ataxia, Nystagmus-Associated
Ataxia, Familial Paroxysmal	Acetazolamide-Responsive Episodic Ataxia Syndrome
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia	Ataxia, Familial, Paroxysmal
Nystagmus-Associated Episodic Ataxia	Familial Paroxysmal Ataxia
Episodic Ataxia 2	Ea-2
Episodic Ataxia Nystagmus-Associated	Hereditary Paroxysmal Cerebellopathy
Ataxia, Episodic, Type 2

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6	SCA6
Type 6 Spinocerebellar Ataxia	Spinocerebellar Ataxia-6
Ataxia, Spinocerebellar, Type 6

Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome	MSS
Marinesco-Garland Syndrome	Garland-Moorhouse Syndrome
Hereditary Oligophrenic Cerebello-Lental Degeneration	Oligophrenic Cerebellolenticular Degeneration
Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism	Marinesco-Sjogren Syndrome-Myopathy
Marinesco-Sjogren-Garland Syndrome	Marinesco-Sjoegren Syndrome

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1	SCA1
Olivopontocerebellar Atrophy I	Opca1
Opca4	Menzel Type Opca
Schut-Haymaker Type Opca	Spinocerebellar Atrophy I
Opca I	Olivopontocerebellar Atrophy Iv
Opca Iv	Cerebelloparenchymal Disorder I
Cpd1	Olivopontocerebellar Atrophy 1
Cerebelloparenchymal Disorder 1	Olivopontocerebellar Atrophy 4
Spinocerebellar Atrophy 1	Type 1 Spinocerebellar Ataxia
Spinocerebellar Ataxia-1	Ataxia, Spinocerebellar, Type 1

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

Autosomal Recessive Cerebellar Ataxia

Arca

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia	Spherocytic Anemia
Congenital Spherocytosis	Spherocytosis, Type 1
Minkowski Chauffard Syndrome	Hs
Minkowski-Chauffard Disease	Minkowski-Chauffard Syndrome
Spherocytosis Hereditary	Spherocytosis, Hereditary
Anemia, Hereditary Spherocytic Hemolytic

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Spastic Ataxia

Spax	Ataxia, Spastic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13733	SPTBN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SPTBN2	VGNC	VGNC:77872
Mus musculus	SPTBN2	MGD	MGI:1313261
Canis familiaris	SPTBN2	VGNC	VGNC:46776
Rattus norvegicus	SPTBN2	RGD	RGD:3751
Felis catus	SPTBN2	VGNC	VGNC:65660