TSPAN7

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TSPAN7
Identifiers
Aliases TSPAN7, A15, CCG-B7, CD231, DXS1692E, MRX58, MXS1, TALLA-1, TM4SF2, TM4SF2b, tetraspanin 7
External IDs MGI: 1298407 HomoloGene: 20967 GeneCards: 7102
RNA expression pattern
PBB GE TSPAN7 202242 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004615

NM_019634

RefSeq (protein)

NP_004606.2

NP_062608.2

Location (UCSC) Chr X: 38.56 – 38.69 Mb Chr X: 10.49 – 10.6 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene.[3][4]

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.[4] More recently, it has been identified as a key immune system target in type 1 diabetes.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 1735161free to read. PMID 12070254. 
  4. ^ a b "Entrez Gene: TSPAN7 tetraspanin 7". 
  5. ^ McLaughlin, KA; Richardson, CC (16 March 2016). "Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes". Diabetes. doi:10.2337/db15-1058. PMID 26953162. Retrieved 24 April 2016. 

Further reading[edit]