GENETIC ENCYCLOPEDIA
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gene: CNN2

id1265
symbolCNN2
organismHomo sapiens
full namecalponin 2
summaryThe protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
variant-disease

GRCh37/hg19 19p13.3(chr19:1026477-1029201)x3 AND not provided

GRCh37/hg19 19p13.3(chr19:994074-1027797)x3 AND not provided

GRCh37/hg19 19p13.3(chr19:990971-1027797)x3 AND not provided

GRCh37/hg19 19p13.3(chr19:1008504-1027797)x3 AND not provided

GRCh37/hg19 19p13.3(chr19:1008704-1027797)x4 AND not provided

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