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SPTBN2 spectrin beta, non-erythrocytic 2 [ Homo sapiens (human) ]

Gene ID: 6712, updated on 5-May-2020

Summary

Official Symbol
SPTBN2provided by HGNC
Official Full Name
spectrin beta, non-erythrocytic 2provided by HGNC
Primary source
HGNC:HGNC:11276
See related
Ensembl:ENSG00000173898 MIM:604985
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCA5; SCAR14; GTRAP41
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]
Expression
Biased expression in skin (RPKM 16.1), testis (RPKM 12.4) and 8 other tissues See more
Orthologs

Genomic context

See SPTBN2 in Genome Data Viewer
Location:
11q13.2
Exon count:
44
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66682496..66729361, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66449967..66496716, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RBM14-RBM4 readthrough Neighboring gene RNA binding motif protein 14 Neighboring gene RNA binding motif protein 4 Neighboring gene RNA binding motif protein 4B Neighboring gene RNA, 7SL, cytoplasmic 12, pseudogene Neighboring gene chromosome 11 open reading frame 80 Neighboring gene fragile site, folic acid type, rare, fra(11)(q13.3) Neighboring gene complement C1q binding protein pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinocerebellar ataxia type 5
MedGen: C0752123 OMIM: 600224 GeneReviews: Hereditary Ataxia Overview
Compare labs
Spinocerebellar ataxia, autosomal recessive 14
MedGen: C3809327 OMIM: 615386 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
structural constituent of synapse IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
actin filament capping IEA
Inferred from Electronic Annotation
more info
 
adult behavior IEA
Inferred from Electronic Annotation
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
cerebellar Purkinje cell layer morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
postsynapse organization IEA
Inferred from Electronic Annotation
more info
 
synapse assembly IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell junction IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
postsynaptic spectrin-associated cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
spectrin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
spectrin beta chain, non-erythrocytic 2
Names
beta-III spectrin
glutamate transporter EAAT4-associated protein 41
spectrin beta III sigma 2
spectrin beta chain, brain 2
spectrin, non-erythroid beta chain 2
spinocerebellar ataxia 5 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016150.2 RefSeqGene

    Range
    12963..51866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006946.4NP_008877.2  spectrin beta chain, non-erythrocytic 2

    Status: VALIDATED

    Source sequence(s)
    AB008567, AP001157
    Consensus CDS
    CCDS8150.1
    Related
    ENSP00000432568.1, ENST00000533211.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    66682496..66729361 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018174.1XP_016873663.1  spectrin beta chain, non-erythrocytic 2 isoform X2

    UniProtKB/Swiss-Prot
    O15020
    Conserved Domains (7) summary
    smart00150
    Location:20182075
    SPEC; Spectrin repeats
    smart00033
    Location:61159
    CH; Calponin homology domain
    cd00014
    Location:177280
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:13841588
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:22212324
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:22212324
    PH; PH domain
    pfam00435
    Location:429522
    Spectrin; Spectrin repeat
  2. XM_005274193.3XP_005274250.1  spectrin beta chain, non-erythrocytic 2 isoform X2

    See identical proteins and their annotated locations for XP_005274250.1

    UniProtKB/Swiss-Prot
    O15020
    Conserved Domains (7) summary
    smart00150
    Location:20182075
    SPEC; Spectrin repeats
    smart00033
    Location:61159
    CH; Calponin homology domain
    cd00014
    Location:177280
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:13841588
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:22212324
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:22212324
    PH; PH domain
    pfam00435
    Location:429522
    Spectrin; Spectrin repeat
  3. XM_017018178.1XP_016873667.1  spectrin beta chain, non-erythrocytic 2 isoform X2

    UniProtKB/Swiss-Prot
    O15020
    Related
    ENSP00000433593.1, ENST00000529997.5
    Conserved Domains (7) summary
    smart00150
    Location:20182075
    SPEC; Spectrin repeats
    smart00033
    Location:61159
    CH; Calponin homology domain
    cd00014
    Location:177280
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:13841588
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:22212324
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:22212324
    PH; PH domain
    pfam00435
    Location:429522
    Spectrin; Spectrin repeat
  4. XM_006718671.4XP_006718734.1  spectrin beta chain, non-erythrocytic 2 isoform X2

    See identical proteins and their annotated locations for XP_006718734.1

    UniProtKB/Swiss-Prot
    O15020
    Related
    ENSP00000311489.2, ENST00000309996.6
    Conserved Domains (7) summary
    smart00150
    Location:20182075
    SPEC; Spectrin repeats
    smart00033
    Location:61159
    CH; Calponin homology domain
    cd00014
    Location:177280
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:13841588
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:22212324
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:22212324
    PH; PH domain
    pfam00435
    Location:429522
    Spectrin; Spectrin repeat
  5. XM_017018176.1XP_016873665.1  spectrin beta chain, non-erythrocytic 2 isoform X2

    UniProtKB/Swiss-Prot
    O15020
    Conserved Domains (7) summary
    smart00150
    Location:20182075
    SPEC; Spectrin repeats
    smart00033
    Location:61159
    CH; Calponin homology domain
    cd00014
    Location:177280
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:13841588
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:22212324
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:22212324
    PH; PH domain
    pfam00435
    Location:429522
    Spectrin; Spectrin repeat
  6. XM_017018177.2XP_016873666.1  spectrin beta chain, non-erythrocytic 2 isoform X2

    UniProtKB/Swiss-Prot
    O15020
    Conserved Domains (7) summary
    smart00150
    Location:20182075
    SPEC; Spectrin repeats
    smart00033
    Location:61159
    CH; Calponin homology domain
    cd00014
    Location:177280
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:13841588
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:22212324
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:22212324
    PH; PH domain
    pfam00435
    Location:429522
    Spectrin; Spectrin repeat
  7. XM_017018175.2XP_016873664.1  spectrin beta chain, non-erythrocytic 2 isoform X2

    UniProtKB/Swiss-Prot
    O15020
    Conserved Domains (7) summary
    smart00150
    Location:20182075
    SPEC; Spectrin repeats
    smart00033
    Location:61159
    CH; Calponin homology domain
    cd00014
    Location:177280
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:13841588
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:22212324
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:22212324
    PH; PH domain
    pfam00435
    Location:429522
    Spectrin; Spectrin repeat
  8. XM_006718669.3XP_006718732.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    Conserved Domains (7) summary
    smart00150
    Location:20252082
    SPEC; Spectrin repeats
    smart00033
    Location:68166
    CH; Calponin homology domain
    cd00014
    Location:184287
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:13911595
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd10571
    Location:22282331
    PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:22282331
    PH; PH domain
    pfam00435
    Location:436529
    Spectrin; Spectrin repeat
  9. XM_011545216.3XP_011543518.1  spectrin beta chain, non-erythrocytic 2 isoform X3

    Conserved Domains (4) summary
    smart00033
    Location:68166
    CH; Calponin homology domain
    cd00014
    Location:184287
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:541753
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:436529
    Spectrin; Spectrin repeat
  10. XM_011545217.2XP_011543519.1  spectrin beta chain, non-erythrocytic 2 isoform X4

    Conserved Domains (4) summary
    smart00033
    Location:68166
    CH; Calponin homology domain
    cd00014
    Location:184287
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:541753
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:436529
    Spectrin; Spectrin repeat
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