TSPAN7
Tetraspanin 7 | |||||||||
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Identifiers | |||||||||
Symbols | TSPAN7 ; A15; CCG-B7; CD231; DXS1692E; MRX58; MXS1; TALLA-1; TM4SF2; TM4SF2b | ||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 20967 | ||||||||
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RNA expression pattern | |||||||||
File:PBB GE TSPAN7 202242 at tn.png | |||||||||
More reference expression data | |||||||||
Orthologs | |||||||||
Template:GNF Ortholog box | |||||||||
Species | Human | Mouse | |||||||
Entrez | n/a | n/a | |||||||
Ensembl | n/a | n/a | |||||||
UniProt | n/a | n/a | |||||||
RefSeq (mRNA) | n/a | n/a | |||||||
RefSeq (protein) | n/a | n/a | |||||||
Location (UCSC) | n/a | n/a | |||||||
PubMed search | n/a | n/a |
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]
References
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.
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