GENETIC ENCYCLOPEDIA
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gene: CALB2

id794
symbolCALB2
organismHomo sapiens
full namecalbindin 2
summaryThis gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
variant-disease

GRCh37/hg19 16q22.1-22.2(chr16:70467293-71560136)x3 AND not provided

GRCh37/hg19 16q22.2(chr16:71218580-72049481)x1 AND See cases

GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1 AND Ductal breast carcinoma

GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1 AND not provided

GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3 AND See cases

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