Gene Gene information from NCBI Gene database.
Entrez ID 808
Gene name Calmodulin 3
Gene symbol CALM3
Synonyms (NCBI Gene)
CALMCAM1CAM2CAMBCPVT6CaMCaMIIIHEL-S-72LQT16PHKDPHKD3
Chromosome 19
Chromosome location 19q13.32
Summary This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants hav
miRNA miRNA information provided by mirtarbase database.
1016
miRTarBase ID miRNA Experiments Reference
MIRT004467 hsa-miR-1-3p Proteomics 18668040
MIRT025949 hsa-miR-7-5p Microarray 19073608
MIRT046170 hsa-miR-27b-3p CLASH 23622248
MIRT044685 hsa-miR-320a CLASH 23622248
MIRT082507 hsa-miR-3617-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
97
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:0001975 Process Response to amphetamine IEA
GO:0002027 Process Regulation of heart rate IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114183 1449 ENSG00000160014
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
186
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Long QT syndrome 1 Pathogenic; Likely pathogenic rs35617141, rs2513646355, rs1060502608, rs1060502607, rs1555814427, rs1599759598 RCV001878519
RCV003064591
RCV000475293
RCV002230393
RCV002231029
RCV001860538
Long QT syndrome 16 Pathogenic rs1060502607, rs1599759554, rs1599759598 RCV004594063
RCV001003482
RCV001003484
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CALM3-related disorder Benign; Likely benign rs755348000, rs200095251 RCV003948521
RCV003905339
Cardiovascular phenotype Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs775799940, rs559783307, rs1261825623, rs779594484, rs755348000, rs2122250160, rs1471376840, rs147734536, rs755022859, rs2513645767, rs143699789, rs750712140, rs2122249750, rs1271316314, rs773943649
View all (26 more)
RCV002456456
RCV002438979
RCV002456643
RCV002329436
RCV005308487
RCV002352701
RCV004996065
RCV002454310
RCV002372940
RCV002451811
RCV002451993
RCV002452002
RCV002339726
RCV002454925
RCV002357347
RCV002322855
RCV002455319
RCV002375647
RCV002331875
RCV002333957
RCV002409903
RCV002404075
RCV002380800
RCV002455544
RCV004064749
RCV003170800
RCV002411049
RCV002418014
RCV002354658
RCV003377704
RCV003381034
RCV005794546
RCV004434592
RCV004521333
RCV005405070
RCV002446890
RCV002446891
RCV003380576
RCV004601179
RCV002323929
RCV002438316
RCV003372765
RCV002341548
Cervical cancer Uncertain significance rs770764196 RCV005930379
Congenital long QT syndrome Uncertain significance rs756875833 RCV003492705
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 11113632
Anthropophobia Associate 34831335
Arrhythmias Cardiac Associate 23040497, 31170290, 31454269, 32012279, 33211795, 36273583, 37528649
Arrhythmogenic Right Ventricular Dysplasia Associate 27927985, 31454269
Atrioventricular Block Associate 27374306
Bradycardia Associate 27374306
Breast Neoplasms Associate 27129269, 31987794
Brugada Syndrome Associate 19171938
Candidiasis Invasive Stimulate 16603614
Carcinoma Hepatocellular Associate 35724265