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TSPAN7 tetraspanin 7 [ Homo sapiens (human) ]

Gene ID: 7102, updated on 2-Oct-2018

Summary

Official Symbol
TSPAN7provided by HGNC
Official Full Name
tetraspanin 7provided by HGNC
Primary source
HGNC:HGNC:11854
See related
Ensembl:ENSG00000156298 MIM:300096; Vega:OTTHUMG00000024090
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
A15; MXS1; CD231; MRX58; CCG-B7; TM4SF2; TALLA-1; TM4SF2b; DXS1692E
Summary
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 306.6), adrenal (RPKM 70.3) and 14 other tissues See more
Orthologs

Genomic context

See TSPAN7 in Genome Data Viewer
Location:
Xp11.4
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (38561478..38688918)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (38420731..38548172)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ferritin light chain pseudogene 16 Neighboring gene UBTF like 11 (pseudogene) Neighboring gene RNA, U7 small nuclear 7 pseudogene Neighboring gene uncharacterized LOC105373174 Neighboring gene MID1IP1 antisense RNA 1 Neighboring gene MID1 interacting protein 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation 58, X-linked
MedGen: C1846174 OMIM: 300210 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-08-22)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-08-22)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TSPAN7 PubMed
HIV-1 replication requires TSPAN7 expression; knockdown through shRNA expression decreased viral replication in monocyte derived dendritic cell and CD4+ T cell mixed cultures PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tetraspanin proteins, such as CD9, CD63, CD81, CD82, and CD231, are incorporated on the membrane of released virions in an HIV-1 envelope protein (Env)-independent manner and have the potential to inhibit HIV-1 Env-mediated infection PubMed
Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of tetraspanin 7 (TSPAN7, CD231) PubMed
nef The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein tetraspanin 7 (TSPAN7) in cells PubMed
Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of tetraspanin 7 (TSPAN7, CD231) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell surface receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
tetraspanin-7
Names
CD231 antigen
T-cell acute lymphoblastic leukemia associated antigen 1
cell surface glycoprotein A15
membrane component chromosome X surface marker 1
membrane component, X chromosome, surface marker 1
tetraspanin protein
transmembrane 4 superfamily 2b
transmembrane 4 superfamily member 2
transmembrane protein A15
tspan-7

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_009160.1 RefSeqGene

    Range
    5001..132442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004615.3NP_004606.2  tetraspanin-7

    See identical proteins and their annotated locations for NP_004606.2

    Status: REVIEWED

    Source sequence(s)
    AA757687, D29808, DB475293
    Consensus CDS
    CCDS14248.1
    UniProtKB/Swiss-Prot
    P41732
    Related
    ENSP00000367743.2, OTTHUMP00000215926, ENST00000378482.6, OTTHUMT00000356412
    Conserved Domains (2) summary
    cd03161
    Location:110213
    TM4SF2_6_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF2_6_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
    pfam00335
    Location:14239
    Tetraspannin; Tetraspanin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    38561478..38688918
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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