TSPAN7

TSPAN7
Identifiers
Aliases	TSPAN7 , A15, CCG-B7, CD231, DXS1692E, MRX58, MXS1, TALLA-1, TM4SF2, TM4SF2b, tetraspanin 7, XLID58
External IDs	OMIM: 300096 MGI: 1298407 HomoloGene: 20967 GeneCards: TSPAN7
Gene location (Human) Chr. X chromosome (human) [1] Band Xp11.4 Start 38,561,542 bp [1] End 38,688,920 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X A1.1 Start 10,351,397 bp [2] End 10,462,844 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in caudate nucleus nucleus accumbens dorsolateral prefrontal cortex prefrontal cortex putamen Brodmann area 9 cerebellar cortex frontal pole cerebellar hemisphere Brodmann area 10 Top expressed in entorhinal cortex superior frontal gyrus primary motor cortex prefrontal cortex olfactory tubercle hippocampus proper inferior colliculus superior colliculus cerebellar cortex globus pallidus More reference expression data BioGPS 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: 38.56 – 38.69 Mb Chr X: 10.35 – 10.46 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene. ^{[5] [6]}

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. ^[6] More recently, it has been identified as a key immune system target in type 1 diabetes. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000156298 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000058254 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: TSPAN7 tetraspanin 7".
7. McLaughlin, KA; Richardson, CC (16 March 2016). "Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes". Diabetes. 65 (6): 1690–8. doi: 10.2337/db15-1058 . PMID   26953162.

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. doi:10.1242/jcs.114.23.4143. 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. doi:10.1002/ijc.2910610519. PMID   7768645. S2CID   20745142.
• 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. doi:10.1007/BF00189229. PMID   8168850. S2CID   22971645.
• 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. doi:10.1007/BF00191884. PMID   8420826. S2CID   20116250.
• 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. doi:10.1042/0264-6021:3400103. PMC   1220227 . 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. doi:10.1002/(SICI)1096-8628(19990910)86:2<102::AID-AJMG2>3.0.CO;2-C. 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. doi:10.1016/S0168-0102(99)00093-0. PMID   10617319. S2CID   37549217.
• 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. S2CID   23569622.
• 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. doi: 10.1096/fj.00-0651fje . PMID   11387256. S2CID   24996574.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. S2CID   33539823.
• 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. PMC   528928 . 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 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.
• McLaughlin KA, Richardson CC, Ravishankar A, et al. (2007). "Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes". Diabetes. 65 (6): 1690–8. doi: 10.2337/db15-1058 . PMID   26953162.