Gene Gene information from NCBI Gene database.
Entrez ID 5500
Gene name Protein phosphatase 1 catalytic subunit beta
Gene symbol PPP1CB
Synonyms (NCBI Gene)
HEL-S-80pMPNSLH2PP-1BPP1BPP1betaPP1cPPP1CDPPP1beta
Chromosome 2
Chromosome location 2p23.2
Summary The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs886037952 C>G Pathogenic Coding sequence variant, missense variant
rs886037953 G>T Likely-pathogenic Coding sequence variant, missense variant
rs886037954 A>C,T Pathogenic Coding sequence variant, missense variant
rs886037955 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs1114167429 G>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
966
miRTarBase ID miRNA Experiments Reference
MIRT024868 hsa-miR-215-5p Microarray 19074876
MIRT026142 hsa-miR-192-5p Microarray 19074876
MIRT031341 hsa-miR-18a-5p Sequencing 20371350
MIRT046516 hsa-miR-15b-5p CLASH 23622248
MIRT046264 hsa-miR-23b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0000781 Component Chromosome, telomeric region IDA 24270157
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600590 9282 ENSG00000213639
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62140
Protein name Serine/threonine-protein phosphatase PP1-beta catalytic subunit (PP-1B) (PPP1CD) (EC 3.1.3.16) (EC 3.1.3.53)
Protein function Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16891 STPPase_N 8 55 Serine-threonine protein phosphatase N-terminal domain Family
PF00149 Metallophos 56 251 Calcineurin-like phosphoesterase Domain
Sequence
Sequence length 327
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiovascular phenotype Likely pathogenic; Pathogenic rs2465753864, rs886037952, rs886037954 RCV004091919
RCV005260026
RCV004020993
RCV005462927
Dandy-Walker syndrome Pathogenic rs886037952 RCV001257999
Neurodevelopmental delay Pathogenic rs886037952 RCV002274002
Noonan syndrome Pathogenic; Likely pathogenic rs886037952, rs2465736021 RCV001251211
RCV001251212
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aneurysm Ascending Aorta Associate 32678444
Arnold Chiari Malformation Associate 27264673
Breast Neoplasms Associate 17511879, 37957190
Congenital Abnormalities Associate 27681385
Connective Tissue Diseases Associate 27681385
Cryptorchidism Associate 27264673
Dandy Walker Syndrome Associate 27264673
Developmental Disabilities Associate 27264673, 27681385
Drug Resistant Epilepsy Associate 30236064
Ectopia Lentis with Ectopia of Pupil Associate 27264673