TSPAN7

Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene.[5][6]

TSPAN7
Identifiers
AliasesTSPAN7, A15, CCG-B7, CD231, DXS1692E, MRX58, MXS1, TALLA-1, TM4SF2, TM4SF2b, tetraspanin 7, XLID58
External IDsOMIM: 300096 MGI: 1298407 HomoloGene: 20967 GeneCards: TSPAN7
Orthologs
SpeciesHumanMouse
Entrez

7102

21912

Ensembl

ENSG00000156298

ENSMUSG00000058254

UniProt

P41732

Q62283

RefSeq (mRNA)

NM_004615

NM_019634

RefSeq (protein)

NP_004606

NP_062608

Location (UCSC)Chr X: 38.56 – 38.69 MbChr X: 10.35 – 10.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy.[6] More recently, it has been identified as a key immune system target in type 1 diabetes.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000156298 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000058254 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (Jun 2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". J Med Genet. 39 (6): 430–3. doi:10.1136/jmg.39.6.430. PMC 1735161. PMID 12070254.
  6. "Entrez Gene: TSPAN7 tetraspanin 7".
  7. McLaughlin, KA; Richardson, CC (16 March 2016). "Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes". Diabetes. 65 (6): 1690–8. doi:10.2337/db15-1058. PMID 26953162.

Further reading


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