Gene Gene information from NCBI Gene database.
Entrez ID 5515
Gene name Protein phosphatase 2 catalytic subunit alpha
Gene symbol PPP2CA
Synonyms (NCBI Gene)
HJS3NEDLBAPP2AcPP2CAPP2CalphaRP-C
Chromosome 5
Chromosome location 5q31.1
Summary This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs148071386 G>A Uncertain-significance, likely-pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs764595667 C>G,T Likely-pathogenic Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs864622012 AAG>-,AAGAAG Likely-pathogenic, uncertain-significance Coding sequence variant, non coding transcript variant, inframe deletion, inframe insertion
rs915349596 T>C Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs1561733474 T>C Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
840
miRTarBase ID miRNA Experiments Reference
MIRT048079 hsa-miR-197-3p CLASH 23622248
MIRT043848 hsa-miR-340-3p CLASH 23622248
MIRT571790 hsa-miR-125a-5p PAR-CLIP 20371350
MIRT571789 hsa-miR-125b-5p PAR-CLIP 20371350
MIRT571787 hsa-miR-4319 PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CREB1 Activation 17526027
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
73
GO ID Ontology Definition Evidence Reference
GO:0000159 Component Protein phosphatase type 2A complex IDA 17055435, 17174897
GO:0000159 Component Protein phosphatase type 2A complex IEA
GO:0000159 Component Protein phosphatase type 2A complex TAS 11007961
GO:0000278 Process Mitotic cell cycle IBA
GO:0000775 Component Chromosome, centromeric region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176915 9299 ENSG00000113575
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P67775
Protein name Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform (PP2A-alpha) (EC 3.1.3.16) (Replication protein C) (RP-C)
Protein function Catalytic subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase involved in the regulation of a wide variety of enzymes, signal transduction pathways, and cellular events (PubMed:10801873, PubMed:12473674, PubMed:17245430, Pub
PDB 2IAE , 2IE3 , 2IE4 , 2NPP , 2NYL , 2NYM , 3C5W , 3DW8 , 3FGA , 3K7V , 3K7W , 3P71 , 4I5L , 4I5N , 4IYP , 4LAC , 4NY3 , 5W0W , 6NTS , 7CUN , 7K36 , 7PKS , 7SOY , 7YCX , 8RBX , 8RBZ , 8RC4 , 8SO0 , 8TTB , 8TWE , 8TWI , 8U1X , 8U89 , 8UWB , 8YJB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 50 245 Calcineurin-like phosphoesterase Domain
Sequence
Sequence length 309
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Houge-Janssens syndrome 3 Likely pathogenic; Pathogenic rs1561734790, rs1393362032, rs2149383143, rs2481048560, rs2481049691, rs2481051363, rs915349596, rs1561734750, rs864622012, rs1561733474, rs1561737008, rs1580636665, rs1580636668, rs1580637673, rs1580637688
View all (3 more)
RCV001328983
RCV002221953
RCV002226890
RCV002283844
RCV002290410
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PPP2CA-related disorder Likely pathogenic rs972959777, rs2481046894 RCV003400055
RCV003414435
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28012229
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 15544168, 23943618 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 29979448 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma CTD_human_DG 22205926
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 22205926 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Brain ischemia Pubtator 21959857 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30935690
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18818514, 32358373 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only