TSPAN7 gene

tetraspanin 7

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

May be involved in cell proliferation and cell motility.

From NCBI Gene:

  • Mental retardation 58, X-linked

From UniProt:

Mental retardation, X-linked 58 (MRX58): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. [MIM:300210]

Cytogenetic Location: Xp11.4, which is the short (p) arm of the X chromosome at position 11.4

Molecular Location: base pairs 38,561,478 to 38,688,918 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.4, which is the short (p) arm of the X chromosome at position 11.4
  • A15
  • CCG-B7
  • CD231
  • DXS1692E
  • MRX58
  • MXS1
  • TALLA-1
  • TM4SF2
  • TM4SF2b