SPTBN2 - spectrin beta, non-erythrocytic 2 Gene

Also Known as SCA5; SCAR14; GTRAP41

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6712

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

CH

CH: Calponin homology (CH) domain (60 - 161)

CH

CH: Calponin homology (CH) domain (179 - 280)

Spectrin

Spectrin: Spectrin repeat (306 - 414)

Spectrin

Spectrin: Spectrin repeat (426 - 527)

Spectrin

Spectrin: Spectrin repeat (532 - 639)

Spectrin

Spectrin: Spectrin repeat (642 - 744)

Spectrin

Spectrin: Spectrin repeat (749 - 849)

Spectrin

Spectrin: Spectrin repeat (855 - 954)

Spectrin

Spectrin: Spectrin repeat (960 - 1063)

Spectrin

Spectrin: Spectrin repeat (1066 - 1169)

Spectrin

Spectrin: Spectrin repeat (1174 - 1262)

Spectrin

Spectrin: Spectrin repeat (1279 - 1379)

Spectrin

Spectrin: Spectrin repeat (1384 - 1485)

Spectrin

Spectrin: Spectrin repeat (1489 - 1586)

Spectrin

Spectrin: Spectrin repeat (1589 - 1692)

Spectrin

Spectrin: Spectrin repeat (1696 - 1797)

Spectrin

Spectrin: Spectrin repeat (1801 - 1904)

Spectrin

Spectrin: Spectrin repeat (1910 - 2010)

Spectrin

Spectrin: Spectrin repeat (2017 - 2076)

PH_9

PH_9: Pleckstrin homology domain (2222 - 2326)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2390 a.a.
Protein Preferred Names Protein Names

spectrin beta chain, non-erythrocytic 2

  • beta-III spectrin

SPTBN2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P89557 spectrin β III Antibody (YA8901) WB, ICC/IF, IF-Tissue, IP, ELISA human, mouse, rat

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

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
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
Others SPTBN2 NCBI