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    TSPAN7 tetraspanin 7 [ Homo sapiens (human) ]

    Gene ID: 7102, updated on 2-Nov-2024

    Summary

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    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

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    See TSPAN7 in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (38561542..38688918)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37965162..38092516)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily. Takagi S, et al. Int J Cancer, 1995 May 29. PMID 7768645
    2. Tetraspanin 7 (TSPAN7) expression is upregulated in multiple myeloma patients and inhibits myeloma tumour development in vivo. Cheong CM, et al. Exp Cell Res, 2015 Mar 1. PMID 25637218
    3. Unveiling the unique role of TSPAN7 across tumors: a pan-cancer study incorporating retrospective clinical research and bioinformatic analysis. Lu B, et al. Biol Direct, 2024 Aug 22. PMID 39175035, Free PMC Article
    4. Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder. Noor A, et al. Psychiatr Genet, 2009 Jun. PMID 19339915
    5. Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? Maranduba CM, et al. Am J Med Genet A, 2004 Feb 1. PMID 14735593

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Unveiling the unique role of TSPAN7 across tumors: a pan-cancer study incorporating retrospective clinical research and bioinformatic analysis.
      Title: Unveiling the unique role of TSPAN7 across tumors: a pan-cancer study incorporating retrospective clinical research and bioinformatic analysis.
    2. New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology.
      Title: New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology.
    3. Loss of tetraspanin-7 expression reduces pancreatic beta-cell exocytosis Ca[2+] sensitivity but has limited effect on systemic metabolism.
      Title: Loss of tetraspanin-7 expression reduces pancreatic β-cell exocytosis Ca(2+) sensitivity but has limited effect on systemic metabolism.
    4. Dendritic Cell Maturation Regulates TSPAN7 Function in HIV-1 Transfer to CD4(+) T Lymphocytes.
      Title: Dendritic Cell Maturation Regulates TSPAN7 Function in HIV-1 Transfer to CD4(+) T Lymphocytes.
    5. Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer.
      Title: Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer.
    6. Autoimmunity to tetraspanin-7 in type 1 diabetes.
      Title: Autoimmunity to tetraspanin-7 in type 1 diabetes.
    7. These results disclosed a previously uncharacterized role of TSPAN7 in the regulation of the expression and functional activity of DRD2 by postendocytic trafficking.
      Title: Functional expression of dopamine D2 receptor is regulated by tetraspanin 7-mediated postendocytic trafficking.
    8. The role of TSPAN7 in immune system response to HIV-1 is reviewed. TSPAN7 appears to be a positive regulator of actin nucleation and stabilization, through the ARP2/3 complex. By doing so, TSPAN7 limits HIV-1 endocytosis and maintains viral particles on actin-rich dendrites for an efficient transfer toward T lymphocytes.
      Title: TSPAN7, effector of actin nucleation required for dendritic cell-mediated transfer of HIV-1 to T cells.
    9. Elevated TSPAN7 may be associated with better outcomes for multiple myeloma patients.
      Title: Tetraspanin 7 (TSPAN7) expression is upregulated in multiple myeloma patients and inhibits myeloma tumour development in vivo.
    10. Loss of TSPAN7 is associated with metastasis in clear-cell renal cell carcinoma.
      Title: CD31, EDNRB and TSPAN7 are promising prognostic markers in clear-cell renal cell carcinoma revealed by genome-wide expression analyses of primary tumors and metastases.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_004615.4 → NP_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:110 → 213
      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:15 → 237
      Tetraspannin; Tetraspanin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41732.2 GenPept UniProtKB/Swiss-Prot:P41732

    Gene LinkOut

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