PPP1R2C

PPP1R2C family member C

Basic information

Region (hg38): X:42777366-42778163

Previous symbols: [ "PPP1R2P9" ]

Links

ENSG00000102055

∙ NCBI:80316 ∙ OMIM:301017 ∙ HGNC:16324 ∙ Uniprot:O14990 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PPP1R2C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R2C gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1 clinvar		1
missense				1 clinvar		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in PPP1R2C

This is a list of pathogenic ClinVar variants found in the PPP1R2C region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-42777838-T-C			Likely benign (Nov 01, 2022)	2660356
X-42777891-G-A			Likely benign (Jun 01, 2022)	2660357

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Functions as a protein phosphatase inhibitor. It inhibits activity of the catalytic subunit of PP1 and weakly inhibits the activity of myosin-associated phosphates. {ECO:0000269|PubMed:11076525}.;

Haploinsufficiency Scores

pHI: 0.0387
hipred
hipred_score
ghis

Gene ontology

Biological process: regulation of signal transduction;negative regulation of phosphoprotein phosphatase activity;regulation of phosphoprotein phosphatase activity
Cellular component: cellular_component
Molecular function: protein phosphatase inhibitor activity