CALM3 (calmodulin 3)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
808
Gene name Gene Name - the full gene name approved by the HGNC.
Calmodulin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CALM3
Synonyms (NCBI Gene) Gene synonyms aliases
CALM, CAM1, CAM2, CAMB, CPVT6, CaM, CaMIII, HEL-S-72, LQT16, PHKD, PHKD3
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Other IDs Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
114183 1449 ENSG00000160014
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Long QT Syndrome long qt syndrome 1, Long QT syndrome 16 rs1060502608, rs1060502607, rs1555814427, rs1599759554, rs1599759598 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Catecholaminergic Polymorphic Ventricular Tachycardia catecholaminergic polymorphic ventricular tachycardia N/A N/A GenCC
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Show/Hide Text Mining Associations (45)
Associations from Text Mining Disease 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