Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5500
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase 1 catalytic subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPP1CB
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-80p, MP, NSLH2, PP-1B, PP1B, PP1beta, PP1c, PPP1CD, PPP1beta
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600590 9282 ENSG00000213639
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Noonan-Like Syndrome With Loose Anagen Hair noonan syndrome-like disorder with loose anagen hair 2 rs886037954, rs886037955, rs1114167429, rs1553311527, rs886037952 N/A
Noonan Syndrome noonan syndrome rs886037952 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease 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