SPTBN2 - spectrin beta, non-erythrocytic 2 Gene
Also Known as SCA5; SCAR14; GTRAP41
Species: Homo sapiens
About SPTBN2
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 |
SPTBN2 Protein Structure
CH: Calponin homology (CH) domain (60 - 161)
CH: Calponin homology (CH) domain (179 - 280)
Spectrin: Spectrin repeat (306 - 414)
Spectrin: Spectrin repeat (426 - 527)
Spectrin: Spectrin repeat (532 - 639)
Spectrin: Spectrin repeat (642 - 744)
Spectrin: Spectrin repeat (749 - 849)
Spectrin: Spectrin repeat (855 - 954)
Spectrin: Spectrin repeat (960 - 1063)
Spectrin: Spectrin repeat (1066 - 1169)
Spectrin: Spectrin repeat (1174 - 1262)
Spectrin: Spectrin repeat (1279 - 1379)
Spectrin: Spectrin repeat (1384 - 1485)
Spectrin: Spectrin repeat (1489 - 1586)
Spectrin: Spectrin repeat (1589 - 1692)
Spectrin: Spectrin repeat (1696 - 1797)
Spectrin: Spectrin repeat (1801 - 1904)
Spectrin: Spectrin repeat (1910 - 2010)
Spectrin: Spectrin repeat (2017 - 2076)
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 |
|
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, Autosomal Recessive 14 |
|
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| Epidemic Typhus |
|
|
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
|
| Rocky Mountain Spotted Fever |
|
|
| Hereditary Ataxia |
|
|
| Brill-Zinsser Disease |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
|
| Endemic Typhus |
|
|
| Aceruloplasminemia |
|
|
| Spinocerebellar Ataxia 4 |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Spinocerebellar Ataxia 20 |
|
|
| Episodic Ataxia, Type 6 |
|
|
| Cerebellar Ataxia Type 48 |
|
|
| African Tick-Bite Fever |
|
|
| Developmental And Epileptic Encephalopathy 5 |
|
|
| Spinocerebellar Ataxia, X-Linked 1 |
|
|
| Spinocerebellar Ataxia 15 |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
|
| Spastic Paraplegia 41, Autosomal Dominant |
|
|
| Spotted Fever |
|
|
| Boutonneuse Fever |
|
|
| Queensland Tick Typhus |
|
|
| Spinocerebellar Ataxia 13 |
|
|
| X-Linked Cerebellar Ataxia |
|
|
| Peripheral Nerve Schwannoma |
|
|
| Optic Atrophy 9 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
|
| Cerebellar Ataxia Type 47 |
|
|
| Israeli Tick Typhus |
|
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| Cerebellar Ataxia Type 43 |
|
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| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
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| Cerebral Palsy |
|
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| Friedreich Ataxia |
|
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| Cerebellar Disease |
|
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| Spastic Paraplegia 8, Autosomal Dominant |
|
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| Beckwith-Wiedemann Syndrome |
|
|
| Olivopontocerebellar Atrophy |
|
|
| Episodic Ataxia |
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
|
| Spinocerebellar Ataxia 23 |
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
|
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
|
| Episodic Ataxia, Type 2 |
|
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| Spinocerebellar Ataxia 6 |
|
|
| Marinesco-Sjogren Syndrome |
|
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| Spinocerebellar Ataxia 1 |
|
|
| Machado-Joseph Disease |
|
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| Autosomal Recessive Cerebellar Ataxia |
|
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| Hereditary Spherocytosis |
|
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| West Syndrome |
|
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| Spastic Ataxia |
|
|
| Early Infantile Epileptic Encephalopathy |
|
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| Parkinson Disease, Late-Onset |
|
|
| Hereditary Spastic Paraplegia |
|
|
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 |