Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5518
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase 2 scaffold subunit Aalpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPP2R1A
Synonyms (NCBI Gene) Gene synonyms aliases
HJS2, MRD36, PP2A-Aalpha, PP2AA, PP2AAALPHA, PR65A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HJS2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.41
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0000159 Component Protein phosphatase type 2A complex IBA 21873635
GO:0000159 Component Protein phosphatase type 2A complex IDA 17055435, 17174897
GO:0000159 Component Protein phosphatase type 2A complex TAS 11007961
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605983 9302 ENSG00000105568
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Associations from Text Mining
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