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
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
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
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 205 235 HEAT repeat Repeat
PF02985 HEAT 283 313 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  Reactome
  mRNA surveillance pathway
Sphingolipid signaling pathway
Cell cycle
Oocyte meiosis
PI3K-Akt signaling pathway
AMPK signaling pathway
Adrenergic signaling in cardiomyocytes
TGF-beta signaling pathway
Hippo signaling pathway
Tight junction
T cell receptor signaling pathway
Dopaminergic synapse
Long-term depression
Chagas disease
Hepatitis C
Human papillomavirus infection
  Inhibition of replication initiation of damaged DNA by RB1/E2F1
Spry regulation of FGF signaling
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
DARPP-32 events
Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
ERK/MAPK targets
ERKs are inactivated
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
Initiation of Nuclear Envelope (NE) Reformation
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
80
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely pathogenic; Pathogenic rs1057519946 RCV005900737
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
RCV000201504
RCV003128303
RCV003219209
RCV003232037
RCV003232039
RCV004556964
RCV000761600
RCV001262898
RCV000824836
RCV003232134
Intellectual disability Likely pathogenic; Pathogenic rs1057519947 RCV002225611
Neoplasm Likely pathogenic rs546812521 RCV005230633
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs8100816 RCV005921189
Autism spectrum disorder Uncertain significance rs2514107396 RCV003127365
Familial cancer of breast Likely benign rs187141962 RCV005923916
Uterine corpus endometrial carcinoma - rs2122267908 RCV005922448
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 34716204
Ataxia Telangiectasia Associate 34933911
Breast Diseases Associate 19890961
Breast Neoplasms Associate 19890961
Carcinogenesis Associate 27469332, 31142515
Carcinoma Endometrioid Associate 21435433
Carcinoma Hepatocellular Associate 23555712, 27023146
Carcinoma Renal Cell Associate 28004769, 28718916
Carcinoma Squamous Cell Associate 25072932
Carcinosarcoma Associate 22653804, 28292439, 28940304, 32114514