Entity Details

Primary name SPTN2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15020
EntryNameSPTN2_HUMAN
FullNameSpectrin beta chain, non-erythrocytic 2
TaxID9606
Evidenceevidence at protein level
Length2390
SequenceStatuscomplete
DateCreated2001-11-16
DateModified2021-06-02

Ontological Relatives

GenesSPTBN2

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005543 phospholipid binding
GO:0005615 extracellular space
GO:0005829 cytosol
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007411 axon guidance
GO:0007416 synapse assembly
GO:0008091 spectrin
GO:0016192 vesicle-mediated transport
GO:0016324 apical plasma membrane
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0021692 cerebellar Purkinje cell layer morphogenesis
GO:0030534 adult behavior
GO:0035264 multicellular organism growth
GO:0043025 neuronal cell body
GO:0045296 cadherin binding
GO:0051693 actin filament capping
GO:0098688 parallel fiber to Purkinje cell synapse
GO:0098793 presynapse
GO:0098918 structural constituent of synapse
GO:0098978 glutamatergic synapse
GO:0099173 postsynapse organization
GO:0099189 postsynaptic spectrin-associated cytoskeleton

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR001589 Actinin-type actin-binding domain, conserved siteSiteConserved site
IPR001605 Pleckstrin homology domain, spectrin-typeDomainDomain
IPR001715 Calponin homology domainDomainDomain
IPR001849 Pleckstrin homology domainDomainDomain
IPR002017 Spectrin repeatRepeatRepeat
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR016343 Spectrin, beta subunitFamilyFamily
IPR018159 Spectrin/alpha-actininRepeatRepeat
IPR036872 CH domain superfamilyFamilyHomologous superfamily
IPR041681 Pleckstrin homology domain 9DomainDomain

Diseases

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Disease IDSourceNameDescription
600224 OMIMSpinocerebellar ataxia 5 (SCA5)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. The disease is caused by variants affecting the gene represented in this entry.
615386 OMIMSpinocerebellar ataxia, autosomal recessive, 14 (SCAR14)A form of spinocerebellar ataxia, 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. The disease is caused by variants affecting the gene represented in this entry.