TSPAN7

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Tetraspanin 7
Identifiers
Symbols TSPAN7 ; A15; CCG-B7; CD231; DXS1692E; MRX58; MXS1; TALLA-1; TM4SF2; TM4SF2b
External IDs OMIM300096 MGI1298407 HomoloGene20967 GeneCards: TSPAN7 Gene
RNA expression pattern
PBB GE TSPAN7 202242 at tn.png
More reference expression data
Orthologs
Species Human Mouse
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:
38.42 – 38.55 Mb
Chr X:
10.49 – 10.6 Mb
PubMed search [1] [2]

Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene.[1][2]

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.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: TSPAN7 tetraspanin 7". 

Further reading[edit]