GENETIC ENCYCLOPEDIA
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gene: CALCR

id799
symbolCALCR
organismHomo sapiens
full namecalcitonin receptor
summaryThis gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
variant-disease

NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro) AND Bone mineral density quantitative trait locus 15

GRCh37/hg19 7q21.3(chr7:93006562-93511541)x3 AND not provided

GRCh38/hg38 7q21.3(chr7:93410151-93604672)x1 AND See cases

GRCh38/hg38 7q21.3(chr7:93410151-93604672)x1 AND See cases

GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1 AND See cases

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