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gene: S100A13

id6284
symbolS100A13
organismHomo sapiens
full nameS100 calcium binding protein A13
summaryThe protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
variant-disease

GRCh37/hg19 1q21.3(chr1:153488723-153750339)x3 AND not provided

GRCh37/hg19 1q21.3(chr1:153412418-153604246)x3 AND Ductal breast carcinoma

GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 AND not provided

GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 AND See cases

GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 AND not provided

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