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. More recently, it has been identified as a key immune system target in type 1 diabetes.
Berditchevski F (2002). "Complexes of tetraspanins with integrins: more than meets the eye". J. Cell. Sci. 114 (Pt 23): 4143–51. PMID11739647.
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. PMID7768645.
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. PMID8168850.
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. PMID8325628.
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. PMID8420826.
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. PMID10617319.
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. PMID10655063.
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. PMID11387256.
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. PMID12777533.
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. PMID14735593.
McLaughlin KA, Richardson CC, Ravishankar A, et al. (2007). "Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes". Diabetes. 3 (1): 89. doi:10.2337/db15-1058. PMID26953162.