InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPTBN2

Summary

InnateDB Protein

IDBP-604319.3

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

ENSP00000433593

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.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0005543	phospholipid binding

Biological Process

GO:0007411	axon guidance
GO:0008219	cell death
GO:0016192	vesicle-mediated transport
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0051693	actin filament capping

Cellular Component

GO:0005615	extracellular space
GO:0005829	cytosol
GO:0008091	spectrin

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

PFAM

PF00307
PF00169
PF00435
PF11971

PRINTS

PR00683

PIRSF

PIRSF002297

SMART

SM00033
SM00233
SM00150

TIGRFAMs

Post-translational Modifications

Modification

Cross-References