TSPAN7

From Wikipedia, the free encyclopedia


Tetraspanin 7
Identifiers
Symbol(s) TSPAN7; A15; CCG-B7; CD231; DXS1692E; MRX58; MXS1; TALLA-1; TM4SF2; TM4SF2b
External IDs OMIM: 300096 MGI: 1298407 HomoloGene: 20967
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 7102 21912
Ensembl ENSG00000156298 ENSMUSG00000058254
Uniprot P41732 Q3UHG5
Refseq NM_004615 (mRNA)
NP_004606 (protein)		 NM_019634 (mRNA)
NP_062608 (protein)
Location Chr X: 38.31 - 38.43 Mb Chr X: 9.64 - 9.75 Mb
Pubmed search [1] [2]

Tetraspanin 7, also known as TSPAN7, is a human gene.[1]

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.[1]

[edit] References

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

[edit] Further reading

  • Castellví-Bel S, Milà M (2001). "Genes responsible for nonspecific mental retardation.". Mol. Genet. Metab. 72 (2): 104–8. doi:10.1006/mgme.2000.3128. PMID 11161835. 
  • Berditchevski F (2002). "Complexes of tetraspanins with integrins: more than meets the eye.". J. Cell. Sci. 114 (Pt 23): 4143–51. PMID 11739647. 
  • Takagi S, Fujikawa K, Imai T, et al. (1995). "Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily.". Int. J. Cancer 61 (5): 706–15. PMID 7768645. 
  • Virtaneva KI, Emi N, Marken JS, et al. (1994). "Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins.". Immunogenetics 39 (5): 329–34. PMID 8168850. 
  • Li SH, McInnis MG, Margolis RL, et al. (1993). "Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms.". Genomics 16 (3): 572–9. doi:10.1006/geno.1993.1232. PMID 8325628. 
  • Emi N, Kitaori K, Seto M, et al. (1993). "Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily.". Immunogenetics 37 (3): 193–8. PMID 8420826. 
  • Serru V, Le Naour F, Billard M, et al. (1999). "Selective tetraspan-integrin complexes (CD81/alpha4beta1, CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting tetraspan interactions.". Biochem. J. 340 ( Pt 1): 103–11. PMID 10229664. 
  • Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, et al. (1999). "Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.". Am. J. Med. Genet. 86 (2): 102–6. PMID 10449641. 
  • Hosokawa Y, Ueyama E, Morikawa Y, et al. (2000). "Molecular cloning of a cDNA encoding mouse A15, a member of the transmembrane 4 superfamily, and its preferential expression in brain neurons.". Neurosci. Res. 35 (4): 281–90. PMID 10617319. 
  • Zemni R, Bienvenu T, Vinet MC, et al. (2000). "A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.". Nat. Genet. 24 (2): 167–70. doi:10.1038/72829. PMID 10655063. 
  • Domínguez-Jiménez C, Yáñez-Mó M, Carreira A, et al. (2001). "Involvement of alpha3 integrin/tetraspanin complexes in the angiogenic response induced by angiotensin II.". FASEB J. 15 (8): 1457–9. PMID 11387256. 
  • Abidi FE, Holinski-Feder E, Rittinger O, et al. (2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58.". J. Med. Genet. 39 (6): 430–3. PMID 12070254. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.". Mol. Biol. Evol. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533. 
  • Maranduba CM, Sá Moreira E, Müller Orabona G, et al. (2004). "Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?". Am. J. Med. Genet. A 124 (4): 413–5. doi:10.1002/ajmg.a.20401. PMID 14735593. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMID 17353931. 
 This article on a gene on the X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.