GENETIC ENCYCLOPEDIA
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gene: TSPAN4

id7106
symbolTSPAN4
organismHomo sapiens
full nametetraspanin 4
summaryThe 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 is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
variant-disease

GRCh37/hg19 11p15.5(chr11:821766-850319)x3 AND not provided

GRCh37/hg19 11p15.5(chr11:800921-850319)x3 AND not provided

GRCh37/hg19 11p15.5(chr11:850336-1491561)x1 AND Ductal breast carcinoma

GRCh37/hg19 11p15.5(chr11:800921-1015021)x3 AND not provided

GRCh37/hg19 11p15.5(chr11:771034-850319)x3 AND not provided

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