CALM2

Gene Facts External Data Attribution

HGNC Symbol
CALM2 (HGNC:1445) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
calmodulin 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PHKD, PHKD2, CAMII
%HI
0.13(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.26(Read more about gnomAD LOEUF score)
Cytoband
2p21
Genomic Coordinates
GRCh37/hg19: chr2:47387221-47404075 NCBI Ensembl UCSC
GRCh38/hg38: chr2:47160082-47176936 NCBI Ensembl UCSC
MANE Select Transcript
NM_001743.6 ENST00000272298.12 (Read more about MANE Select)
Function
Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:26969752, PubMed:27165696). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:35568036, PubMed:26969752, PubMed:27165696). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16127
Curation Status:
Under Group Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)