Gene Gene information from NCBI Gene database.
Entrez ID 5530
Gene name Protein phosphatase 3 catalytic subunit alpha
Gene symbol PPP3CA
Synonyms (NCBI Gene)
ACCIIDCALNCALNACALNA1CCN1CNA1DEE91IECEEIECEE1PPP2B
Chromosome 4
Chromosome location 4q24
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs199706529 G>A,C Pathogenic Coding sequence variant, synonymous variant, missense variant
rs1553920188 T>C Likely-pathogenic Intron variant, splice acceptor variant
rs1553920374 C>T Pathogenic Coding sequence variant, missense variant
rs1553920376 G>A Pathogenic Stop gained, coding sequence variant
rs1553920379 ->AGTA Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
574
miRTarBase ID miRNA Experiments Reference
MIRT000677 hsa-miR-145-5p qRT-PCRLuciferase reporter assayMicroarray 19915607
MIRT005198 hsa-miR-30a-5p pSILAC 18668040
MIRT000677 hsa-miR-145-5p Reporter assay;Other 19915607
MIRT005198 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT053196 hsa-miR-181a-5p Luciferase reporter assay 23677691
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
120
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IDA 30718414
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IMP 30611118
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114105 9314 ENSG00000138814
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08209
Protein name Protein phosphatase 3 catalytic subunit alpha (EC 3.1.3.16) (CAM-PRP catalytic subunit) (Calcineurin A alpha) (Calmodulin-dependent calcineurin A subunit alpha isoform) (CNA alpha) (Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform)
Protein function Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:15671020, PubMed:18838687, PubMed:19154138, PubMed:23468591, PubMed:30254215). Many o
PDB 1AUI , 1M63 , 1MF8 , 2JOG , 2JZI , 2P6B , 2R28 , 2W73 , 3LL8 , 4F0Z , 4Q5U , 5C1V , 5SVE , 6NUC , 6NUF , 6NUU , 6UUQ , 9B9G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 83 285 Calcineurin-like phosphoesterase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in keratinocytes (at protein level) (PubMed:29043977). Expressed in lymphoblasts (at protein level) (PubMed:30254215). {ECO:0000269|PubMed:29043977, ECO:0000269|PubMed:30254215}.
Sequence
MSEPKAIDPKLSTTDRVVKAVPFPPSHRLTAKEVFDNDGKPRVDILKAHLMKEGRLEESV
ALRIITEGASILRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFEVGGSPANTRYLFLGDYV
DRGYFSIECVLYLWALKILYPKTLFLLRGNHECRHLTEYFTFKQECKIKYSERVYDACMD
AFDCLPLAALMNQQFLCVHGGLSPEINTLDDIRKLDRFKEPPAYGPMCDILWSDPLEDFG
NEKTQEHFTHNTVRGCSYFYSYPAVCEFLQHNNLLSILRAHEAQD
AGYRMYRKSQTTGFP
SLITIFSAPNYLDVYNNKAAVLKYENNVMNIRQFNCSPHPYWLPNFMDVFTWSLPFVGEK
VTEMLVNVLNICSDDELGSEEDGFDGATAAARKEVIRNKIRAIGKMARVFSVLREESESV
LTLKGLTPTGMLPSGVLSGGKQTLQSATVEAIEADEAIKGFSPQHKITSFEEAKGLDRIN
ERMPPRRDAMPSDANLNSINKALTSETNGTDSNGSNSSNIQ
Sequence length 521
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
Oocyte meiosis
Cellular senescence
Wnt signaling pathway
Axon guidance
VEGF signaling pathway
Osteoclast differentiation
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
Long-term potentiation
Glutamatergic synapse
Dopaminergic synapse
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Alzheimer disease
Amyotrophic lateral sclerosis
Prion disease
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Tuberculosis
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis
  Calcineurin activates NFAT
FCERI mediated Ca+2 mobilization
Ca2+ pathway
CLEC7A (Dectin-1) induces NFAT activation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
174
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development Pathogenic; Likely pathogenic rs1560567337, rs2110253722, rs1553923787, rs1560567347 RCV001374728
RCV002262172
RCV003883152
RCV000735833
RCV000735834
Developmental and epileptic encephalopathy 91 Pathogenic; Likely pathogenic rs2110205188, rs2110348535, rs780035527, rs1334933549, rs2110253722, rs2476210177, rs2476210016, rs1553920376, rs1553925558, rs1553920374, rs199706529, rs1553923787, rs1553920383, rs1553920379, rs1560570541
View all (3 more)
RCV001374727
RCV001843836
RCV005415341
RCV002250262
RCV002262172
RCV002280296
RCV004555716
RCV000509789
RCV000509875
RCV000510091
RCV000509768
RCV000509989
RCV000677432
RCV000625968
RCV000735832
RCV000987459
RCV001031007
RCV001198048
Epileptic encephalopathy Likely pathogenic; Pathogenic rs1553923787 RCV003483646
Intellectual disability Likely pathogenic; Pathogenic rs1553925558 RCV001027515
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs2476197062 RCV003128041
Developmental disorder Likely benign; Uncertain significance rs2110200440, rs1457318131 RCV001843779
RCV003764452
Gastric cancer Benign; Uncertain significance; Likely benign rs2063057, rs2110240857, rs182123502 RCV005915326
RCV005930197
RCV005932108
Hepatocellular carcinoma Uncertain significance rs764832679 RCV005930772
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27158780
Alzheimer Disease Associate 20590401
Anorexia Nervosa Associate 24514567
Arthrogryposis Associate 32593294
Body Dysmorphic Disorders Associate 30254215
Brain Diseases Associate 30254215, 30455226, 32593294
Breast Neoplasms Associate 34711683
Carcinoma Hepatocellular Associate 23317196
Cleft Palate Associate 32593294
Colitis Ulcerative Associate 35058554