TSPAN7 explained

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] More recently, it has been identified as a key immune system target in type 1 diabetes.^[3]

Further reading

• Castellví-Bel S, Milà M . Genes responsible for nonspecific mental retardation . Mol. Genet. Metab. . 72 . 2 . 104–8 . 2001 . 11161835 . 10.1006/mgme.2000.3128 .
• Berditchevski F . Complexes of tetraspanins with integrins: more than meets the eye . J. Cell Sci. . 114 . Pt 23 . 4143–51 . 2002 . 10.1242/jcs.114.23.4143 . 11739647 .
• Takagi S, Fujikawa K, Imai T, etal . 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 . 1995 . 7768645 . 10.1002/ijc.2910610519 . 20745142 .
• Virtaneva KI, Emi N, Marken JS, etal . 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 . 1994 . 8168850 . 10.1007/BF00189229 . 22971645 .
• Li SH, McInnis MG, Margolis RL, etal . Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms . Genomics . 16 . 3 . 572–9 . 1993 . 8325628 . 10.1006/geno.1993.1232 . free .
• Emi N, Kitaori K, Seto M, etal . Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily . Immunogenetics . 37 . 3 . 193–8 . 1993 . 8420826 . 10.1007/BF00191884 . 20116250 .
• Serru V, Le Naour F, Billard M, etal . Selective tetraspan-integrin complexes (CD81/alpha4beta1, CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting tetraspan interactions . Biochem. J. . 340 . Pt 1. 103–11 . 1999 . 10229664 . 10.1042/0264-6021:3400103 . 1220227 .
• Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, etal . Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region . Am. J. Med. Genet. . 86 . 2 . 102–6 . 1999 . 10449641 . 10.1002/(SICI)1096-8628(19990910)86:2<102::AID-AJMG2>3.0.CO;2-C .
• Hosokawa Y, Ueyama E, Morikawa Y, etal . 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 . 2000 . 10617319 . 10.1016/S0168-0102(99)00093-0 . 37549217 .
• Zemni R, Bienvenu T, Vinet MC, etal . A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation . Nat. Genet. . 24 . 2 . 167–70 . 2000 . 10655063 . 10.1038/72829 . 23569622 .
• Domínguez-Jiménez C, Yáñez-Mó M, Carreira A, etal . Involvement of alpha3 integrin/tetraspanin complexes in the angiogenic response induced by angiotensin II . FASEB J. . 15 . 8 . 1457–9 . 2001 . 11387256 . 10.1096/fj.00-0651fje. free . 24996574 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Kitano T, Schwarz C, Nickel B, Pääbo S . Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees . Mol. Biol. Evol. . 20 . 8 . 1281–9 . 2004 . 12777533 . 10.1093/molbev/msg134 . free .
• Maranduba CM, Sá Moreira E, Müller Orabona G, etal . Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? . Am. J. Med. Genet. A . 124 . 4 . 413–5 . 2004 . 14735593 . 10.1002/ajmg.a.20401 . 33539823 .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Ewing RM, Chu P, Elisma F, etal . Large-scale mapping of human protein–protein interactions by mass spectrometry . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 .
• McLaughlin KA, Richardson CC, Ravishankar A, etal . Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes . Diabetes . 65. 6. 1690–8. 2007 . 26953162 . 10.2337/db15-1058 . free .

Notes and References

1. Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE . A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 . J Med Genet . 39 . 6 . 430–3 . Jun 2002 . 12070254 . 1735161 . 10.1136/jmg.39.6.430 .
2. Web site: Entrez Gene: TSPAN7 tetraspanin 7.
3. McLaughlin. KA. Richardson. CC. Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes. Diabetes. 16 March 2016. 10.2337/db15-1058. 26953162. 65. 6. 1690–8. free.