PPP3CA protein phosphatase 3 catalytic subunit alpha
Gene ID: 5530, updated on 19-Apr-2024Gene type: protein coding
Also known as: CALN; CCN1; CNA1; CALNA; DEE91; IECEE; PPP2B; ACCIID; CALNA1; IECEE1
- See all available tests in GTR for this gene
- Go to complete Gene record for PPP3CA
- Go to Variation Viewer for PPP3CA variants
Summary
Enables several functions, including ATPase binding activity; calmodulin binding activity; and calmodulin-dependent protein phosphatase activity. Involved in several processes, including calcineurin-NFAT signaling cascade; peptidyl-serine dephosphorylation; and response to calcium ion. Located in several cellular components, including cytosol; dendritic spine; and nucleoplasm. Part of calcineurin complex. Colocalizes with cytoplasmic side of plasma membrane. Implicated in developmental and epileptic encephalopathy 91. Biomarker of focal segmental glomerulosclerosis and schizophrenia. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. GeneReviews: Not available | |
| A genome-wide association study of anorexia nervosa. GeneReviews: Not available | |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | See labs |
| Epileptic encephalopathy, infantile or early childhood, 1 | See labs |
| Genome-wide linkage and association scans for pulse pressure in Chinese twins. GeneReviews: Not available |
Genomic context
- Location:
- 4q24
- Sequence:
- Chromosome: 4; NC_000004.12 (101023418..101347526, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPP3CA 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
- Variation ViewerRelated Variants
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