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Gene Gene information from NCBI Gene database.
Entrez ID 5518
Gene name Protein phosphatase 2 scaffold subunit Aalpha
Gene symbol PPP2R1A
Synonyms (NCBI Gene)
HJS2MRD36PP2A-AalphaPP2AAPP2AAALPHAPR65A
Chromosome 19
Chromosome location 19q13.41
Summary This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 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 co
SNPs SNP information provided by dbSNP.
6 Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs786205227 C>T Pathogenic-likely-pathogenic, pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs786205228 C>G,T Likely-pathogenic, pathogenic Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs863225094 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057519946 C>G,T Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1057519947 G>A Likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
300 Show/Hide all (300)
miRTarBase ID miRNA Experiments Reference
MIRT031709 hsa-miR-16-5p Proteomics 18668040
MIRT051517 hsa-let-7e-5p CLASH 23622248
MIRT050961 hsa-miR-17-5p CLASH 23622248
MIRT050575 hsa-miR-20a-5p CLASH 23622248
MIRT050575 hsa-miR-20a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62 Show/Hide all (62)
GO ID Ontology Definition Evidence Reference
GO:0000159 Component Protein phosphatase type 2A complex IBA
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:0000775 Component Chromosome, centromeric region IDA 16580887
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605983 9302 ENSG00000105568
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30153
Protein name Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform (PP2Aa) (Medium tumor antigen-associated 61 kDa protein) (PP2A subunit A isoform PR65-alpha) (PP2A subunit A isoform R1-alpha)
Protein function The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit (PubMed:15525651, PubMed:16580887, PubMed:33243860, PubMed:33633399, PubMed:34004
PDB 1B3U , 2IE3 , 2IE4 , 2NPP , 2NYL , 2NYM , 2PKG , 3C5W , 3DW8 , 3K7V , 3K7W , 4I5L , 4I5N , 4LAC , 5W0W , 6IUR , 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
PF02985 HEAT 166 → 196 HEAT repeat Repeat
PF02985 HEAT 283 → 313 HEAT repeat Repeat
PF02985 HEAT 205 → 235 HEAT repeat Repeat
Sequence
MAAADGDDSLYPIAVLIDELRNEDVQLRLNSIKKLSTIALALGVERTRSELLPFLTDTIY
DEDEVLLALAEQLGTFTTLVGGPEYVHCLLPPLESLATVEETVVRDKAVESLRAISHEHS
PSDLEAHFVPLVKRLAGGDWFTSRTSACGLFSVCYPRVSSAVKAELRQYFRNLCSDDTPM
VRRAAASKLGEFAKVL
ELDNVKSEIIPMFSNLASDEQDSVRLLAVEACVNIAQLLPQEDL
EALVMPTLRQAAEDKSWRVRYMVADKFTELQKAVGPEITKTDLVPAFQNLMKDCEAEVRA
AASHKVKEFCENL
SADCRENVIMSQILPCIKELVSDANQHVKSALASVIMGLSPILGKDN
TIEHLLPLFLAQLKDECPEVRLNIISNLDCVNEVIGIRQLSQSLLPAIVELAEDAKWRVR
LAIIEYMPLLAGQLGVEFFDEKLNSLCMAWLVDHVYAIREAATSNLKKLVEKFGKEWAHA
TIIPKVLAMSGDPNYLHRMTTLFCINVLSEVCGQDITTKHMLPTVLRMAGDPVANVRFNV
AKSLQKIGPILDNSTLQSEVKPILEKLTQDQDVDVKYFAQEALTVLSLA
Sequence length 589
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
mRNA surveillance pathway Inhibition of replication initiation of damaged DNA by RB1/E2F1
Sphingolipid signaling pathway Spry regulation of FGF signaling
Cell cycle Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Oocyte meiosis DARPP-32 events
PI3K-Akt signaling pathway Degradation of beta-catenin by the destruction complex
AMPK signaling pathway Beta-catenin phosphorylation cascade
Adrenergic signaling in cardiomyocytes ERK/MAPK targets
TGF-beta signaling pathway ERKs are inactivated
Hippo signaling pathway Separation of Sister Chromatids
Tight junction Resolution of Sister Chromatid Cohesion
T cell receptor signaling pathway Regulation of PLK1 Activity at G2/M Transition
Dopaminergic synapse Initiation of Nuclear Envelope (NE) Reformation
Long-term depression Loss of Nlp from mitotic centrosomes
Chagas disease Recruitment of mitotic centrosome proteins and complexes
Hepatitis C Loss of proteins required for interphase microtubule organization from the centrosome
Human papillomavirus infection Recruitment of NuMA to mitotic centrosomes
  CTLA4 inhibitory signaling
  Platelet sensitization by LDL
  Disassembly of the destruction complex and recruitment of AXIN to the membrane
  Misspliced GSK3beta mutants stabilize beta-catenin
  S33 mutants of beta-catenin aren't phosphorylated
  S37 mutants of beta-catenin aren't phosphorylated
  S45 mutants of beta-catenin aren't phosphorylated
  T41 mutants of beta-catenin aren't phosphorylated
  APC truncation mutants have impaired AXIN binding
  AXIN missense mutants destabilize the destruction complex
  Truncations of AMER1 destabilize the destruction complex
  Anchoring of the basal body to the plasma membrane
  RHO GTPases Activate Formins
  RAF activation
  Negative regulation of MAPK pathway
  Regulation of TP53 Degradation
  PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  Mitotic Prometaphase
  Cyclin D associated events in G1
  Cyclin A/B1/B2 associated events during G2/M transition
  AURKA Activation by TPX2
  EML4 and NUDC in mitotic spindle formation
  Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
Show/Hide Causal Diseases (7)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Colon adenocarcinoma Likely pathogenic; Pathogenic rs1057519946 RCV005900737
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Houge-Janssens syndrome 2 Pathogenic; Likely pathogenic rs2122334663, rs2122337413, rs786205228, rs786205227, rs863225094, rs1600167934, rs2514079238, rs2514094817, rs1978897991, rs546812521, rs1057519946, rs1057519947, rs1555791268, rs1600167941 RCV003232383
RCV005868326
RCV002273041
RCV000170500
RCV000170501
View all (10 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs1057519947 RCV002225611
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm Likely pathogenic rs546812521 RCV005230633
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2122334423 RCV001374923
★★★★★
★★★★☆
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.
Show/Hide Unknown Diseases (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
complex neurodevelopmental disorder — ClinGen 26168268, 33106617, ClinGen report
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (93)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 26619011
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma CLINVAR_DG 26619011
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34716204 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aqueductal Stenosis Aqueductal Stenosis CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 34933911 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19890961
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Diseases Breast disease Pubtator 19890961 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19890961 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only