Gene Gene information from NCBI Gene database.
Entrez ID 801
Gene name Calmodulin 1
Gene symbol CALM1
Synonyms (NCBI Gene)
CALML2CAM2CAM3CAMBCAMCCAMICAMIIICPVT4DD132LQT14PHKDPHKD1caM
Chromosome 14
Chromosome location 14q32.11
Summary This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified
miRNA miRNA information provided by mirtarbase database.
1709
miRTarBase ID miRNA Experiments Reference
MIRT024054 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT024054 hsa-miR-1-3p Proteomics 18668040
MIRT053626 hsa-let-7f-5p Microarray 22942087
MIRT191943 hsa-miR-495-5p PAR-CLIP 20371350
MIRT507913 hsa-miR-382-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IEA
GO:0000922 Component Spindle pole IDA 16760425
GO:0000922 Component Spindle pole IEA
GO:0002027 Process Regulation of heart rate IEA
GO:0002027 Process Regulation of heart rate IMP 23040497
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114180 1442 ENSG00000198668
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
236
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CALM1-related disorder Likely pathogenic; Pathogenic rs267607277 RCV004758616
Cardiovascular phenotype Pathogenic; Likely pathogenic rs1085307479, rs267607277 RCV005791873
RCV002433484
Catecholaminergic polymorphic ventricular tachycardia Likely pathogenic; Pathogenic rs267607277 RCV000714909
Catecholaminergic polymorphic ventricular tachycardia 1 Likely pathogenic; Pathogenic rs267607276, rs267607277 RCV000157133
RCV000157134
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs191723671 RCV005898104
Familial cancer of breast Benign; Likely benign rs191723671 RCV005898103
Lung cancer Likely benign rs749827346 RCV005900350
Sarcoma Benign; Likely benign rs191723671 RCV005898105
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 34818353
Adenocarcinoma of Lung Associate 38213773
Alzheimer Disease Associate 23333870, 36530083
Alzheimer Disease Inhibit 35216403
Arrhythmias Cardiac Associate 15316014, 19265034, 23040497, 23388215, 24917665, 27374306, 28087622, 30348784, 30384889, 30944319, 31072926, 31170290, 31230402, 31454269, 32012279
View all (8 more)
Arrhythmogenic Right Ventricular Dysplasia Associate 27927985, 31454269, 36693454
Arthritis Rheumatoid Inhibit 11181651
Arthritis Rheumatoid Associate 15539412, 23333870
Astrocytoma Associate 18297103
Ataxia Associate 27632770