Gene Gene information from NCBI Gene database.
Entrez ID 5519
Gene name Protein phosphatase 2 scaffold subunit Abeta
Gene symbol PPP2R1B
Synonyms (NCBI Gene)
PP2A-AbetaPR65B
Chromosome 11
Chromosome location 11q23.1
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.
1
SNP ID Visualize variation Clinical significance Consequence
rs1805076 C>T Pathogenic Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
701
miRTarBase ID miRNA Experiments Reference
MIRT022210 hsa-miR-124-3p Microarray 18668037
MIRT025691 hsa-miR-7-5p Microarray 19073608
MIRT051305 hsa-miR-16-5p CLASH 23622248
MIRT042516 hsa-miR-423-3p CLASH 23622248
MIRT608587 hsa-miR-4307 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000159 Component Protein phosphatase type 2A complex IBA
GO:0005515 Function Protein binding IPI 8392071, 16456541, 17540176, 18715871, 18782753, 19156129, 21172653, 23555304, 26496610, 28330616, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IBA
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603113 9303 ENSG00000137713
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30154
Protein name Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform (PP2A subunit A isoform PR65-beta) (PP2A subunit A isoform R1-beta)
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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02985 HEAT 178 208 HEAT repeat Repeat
PF13646 HEAT_2 217 319 Family
PF13646 HEAT_2 378 479 Family
Sequence
MAGASELGTGPGAAGGDGDDSLYPIAVLIDELRNEDVQLRLNSIKKLSTIALALGVERTR
SELLPFLTDTIYDEDEVLLALAEQLGNFTGLVGGPDFAHCLLPPLENLATVEETVVRDKA
VESLRQISQEHTPVALEAYFVPLVKRLASGDWFTSRTSACGLFSVCYPRASNAVKAEIRQ
QFRSLCSDDTPMVRRAAASKLGEFAKVL
ELDSVKSEIVPLFTSLASDEQDSVRLLAVEAC
VSIAQLLSQDDLETLVMPTLRQAAEDKSWRVRYMVADRFSELQKAMGPKITLNDLIPAFQ
NLLKDCEAEVRAAAAHKVK
ELGENLPIEDRETIIMNQILPYIKELVSDTNQHVKSALASV
IMGLSTILGKENTIEHLLPLFLAQLKDECPDVRLNIISNLDCVNEVIGIRQLSQSLLPAI
VELAEDAKWRVRLAIIEYMPLLAGQLGVEFFDEKLNSLCMAWLVDHVYAIREAATNNLM
K
LVQKFGTEWAQNTIVPKVLVMANDPNYLHRMTTLFCINALSEACGQEITTKQMLPIVLKM
AGDQVANVRFNVAKSLQKIGPILDTNALQGEVKPVLQKLGQDEDMDVKYFAQEAISVLAL
A
Sequence length 601
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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
Lung carcinoma Pathogenic rs1805076 RCV000007000
★★★★☆
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 GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
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 colon Adenocarcinoma Of Colon UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11996789
★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 17449237
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 10597236
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10713707, 16276521
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 10597236, 10935485, 23588898
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 11118052, 17343570
★☆☆☆☆
Found in Text Mining only