PPP1CB Chromosome 2
Protein phosphatase 1 catalytic subunit beta
Upload your DNA to see your personal genotypes for variants in PPP1CB.
What This Gene Does
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, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Protein phosphatase catalytic subunits
Locus Type
gene with protein product
Location
2p23.2
Ensembl
ENSG00000213639
Associated Conditions (9)
Cardiovascular phenotype
PPP1CB-related disorder
Noonan syndrome
Noonan syndrome-like disorder with loose anagen hair 2
RASopathy
Dandy-Walker syndrome
Inborn genetic diseases
Neurodevelopmental delay
Noonan syndrome-like disorder with loose anagen hair
Key Variants
RS1667056053
Conflicting classifications of pathogenicity
Health Risk
RS201449923
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS202171795
Conflicting classifications of pathogenicity
Cardiovascular phenotype, PPP1CB-related disorder, Cardiovascular phenotype
Health Risk
RS2465745645
Conflicting classifications of pathogenicity
Health Risk
RS747468547
Conflicting classifications of pathogenicity
PPP1CB-related disorder, PPP1CB-related disorder
Health Risk
RS768286092
Conflicting classifications of pathogenicity
Noonan syndrome, Noonan syndrome
Health Risk
RS1114167429
Likely pathogenic
Noonan syndrome-like disorder with loose anagen hair 2, RASopathy, Noonan syndrome-like disorder with loose anagen hair 2
Health Risk
RS1553310744
Likely pathogenic
Health Risk
RS2465732793
Likely pathogenic
Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome-like disorder with loose anagen hair 2
Health Risk
RS2465753864
Likely pathogenic
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS886037953
Likely pathogenic
Health Risk
RS886037955
Likely pathogenic
Noonan syndrome-like disorder with loose anagen hair 2, PPP1CB-related disorder, RASopathy
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1667056053 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201449923 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS202171795 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, PPP1CB-related disorder, Cardiovascular phenotype |
| RS2465745645 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747468547 | Health Risk | Conflicting classifications of pathogenicity | PPP1CB-related disorder, PPP1CB-related disorder |
| RS768286092 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome, Noonan syndrome |
| RS1114167429 | Health Risk | Likely pathogenic | Noonan syndrome-like disorder with loose anagen hair 2, RASopathy, Noonan syndrome-like disorder with loose anagen hair 2 |
| RS1553310744 | Health Risk | Likely pathogenic | — |
| RS2465732793 | Health Risk | Likely pathogenic | Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome-like disorder with loose anagen hair 2 |
| RS2465753864 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS886037953 | Health Risk | Likely pathogenic | — |
| RS886037955 | Health Risk | Likely pathogenic | Noonan syndrome-like disorder with loose anagen hair 2, PPP1CB-related disorder, RASopathy |
| RS886037952 | Health Risk | Pathogenic | Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome, Dandy-Walker syndrome |
| RS886037954 | Health Risk | Pathogenic | Noonan syndrome-like disorder with loose anagen hair 2, RASopathy, Cardiovascular phenotype |
| RS1553311527 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome-like disorder with loose anagen hair 2 |
| RS2465736021 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome |