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    TSPAN7 tetraspanin 7 [ Homo sapiens (human) ]

    Gene ID: 7102, updated on 5-May-2024

    Summary

    Official Symbol
    TSPAN7provided by HGNC
    Official Full Name
    tetraspanin 7provided by HGNC
    Primary source
    HGNC:HGNC:11854
    See related
    Ensembl:ENSG00000156298 MIM:300096; AllianceGenome:HGNC:11854
    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; XLID58; 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
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    Genomic context

    See TSPAN7 in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (38561542..38688918)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37965162..38092516)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (38420795..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 H3K4me1 hESC enhancer GRCh37_chrX:38420895-38421396 Neighboring gene RNA, U7 small nuclear 7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20736 Neighboring gene Sharpr-MPRA regulatory region 799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29522 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:38660922-38661429 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:38661763-38662604 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:38662605-38663446 Neighboring gene MID1IP1 antisense RNA 1 Neighboring gene MID1 interacting protein 1 Neighboring gene uncharacterized LOC124905178

    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
    Intellectual disability, X-linked 58
    MedGen: C1846174 OMIM: 300210 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-06-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2022-06-22)

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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_009160.2 RefSeqGene

      Range
      5002..132378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004615.4NP_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
      B2R5W7, D3DWB1, P41732, Q8WVG5, Q9UEY9
      UniProtKB/TrEMBL
      B4DDG0
      Related
      ENSP00000367743.2, ENST00000378482.7
      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:15237
      Tetraspannin; Tetraspanin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      38561542..38688918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      37965162..38092516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)