Homo sapiens Protein: SPTBN2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-59584.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | SPTBN2 | ||||||||||||||||||||||
Protein Name | spectrin, beta, non-erythrocytic 2 | ||||||||||||||||||||||
Synonyms | GTRAP41; SCA5; SCAR14; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000311489 | ||||||||||||||||||||||
InnateDB Gene | IDBG-59582 (SPTBN2) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Probably plays an important role in neuronal membrane skeleton. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. | ||||||||||||||||||||||
Disease Associations | Spinocerebellar ataxia 5 (SCA5) [MIM:600224]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years. {ECO:0000269PubMed:16429157, ECO:0000269PubMed:22914369}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14) [MIM:615386]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability. {ECO:0000269PubMed:23236289, ECO:0000269PubMed:23838597}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001605
Pleckstrin homology domain, spectrin-type IPR001715 Calponin homology domain IPR001849 Pleckstrin homology domain IPR002017 Spectrin repeat IPR016343 Spectrin, beta subunit IPR018159 Spectrin/alpha-actinin IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain |
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PFAM |
PF00307
PF00169 PF00435 PF11971 |
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PRINTS |
PR00683
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PIRSF |
PIRSF002297
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SMART |
SM00033
SM00233 SM00150 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O15020 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O15020 | ||||||||||||||||||||||
TrEMBL | E9PJZ2 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 6712 | ||||||||||||||||||||||
UniGene | Hs.600552 | ||||||||||||||||||||||
RefSeq | NP_008877 | ||||||||||||||||||||||
HUGO | HGNC:11276 | ||||||||||||||||||||||
OMIM | 604985 | ||||||||||||||||||||||
CCDS | CCDS8150 | ||||||||||||||||||||||
HPRD | 05404 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB008567 AF026487 AF026488 AF079569 AP001157 FJ811850 | ||||||||||||||||||||||
GenPept | AAC79502 AAC79503 AAC79504 AAC80006 ACO36918 BAA32700 | ||||||||||||||||||||||