|
Gene id |
808 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CALM3 Gene UCSC Ensembl |
|
Aliases |
CALM, CAM1, CAM2, CAMB, CPVT6, CaM, CaMIII, HEL-S-72, LQT16, PHKD, PHKD3 |
|
Gene name |
calmodulin 3 |
|
Alternate names |
calmodulin-3, Calmodulin-1, Calmodulin-2, epididymis secretory protein Li 72, phosphorylase kinase subunit delta, prepro-calmodulin 3, |
|
Gene location |
19q13.32 (46601073: 46610781) Exons: 14 NC_000019.10
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
114183 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Familial hypertrophic cardiomyopathy | PMID:19429631 |
| Cryptorchidism | MIK: 28606200 |
| Hypospermatogenesis | MIK: 28361989 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
|