CALM2 calmodulin 2
Gene ID: 805, updated on 8-Sep-2024Gene type: protein coding
Also known as: caM; CALM; CAM1; CAM3; CAMC; PHKD; CAMII; LQT15; PHKD2; CALML2; CAMIII
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- Go to complete Gene record for CALM2
- Go to Variation Viewer for CALM2 variants
Summary
This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. GeneReviews: Not available | |
Long QT syndrome 15 | See labs |
Copy number response
Description |
---|
Copy number response Haploinsufficency No evidence available (Last evaluated 2024-07-09) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2024-07-09) ClinGen Genome Curation Page |
Genomic context
- Location:
- 2p21
- Sequence:
- Chromosome: 2; NC_000002.12 (47160082..47176936, complement)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CALM2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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