PPP1R14A

protein phosphatase 1 regulatory inhibitor subunit 14A, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 19:38251236-38256532

Previous symbols: [ "PPP1INL" ]

Links

ENSG00000167641 ∙ NCBI:94274 ∙ OMIM:608153 ∙ HGNC:14871 ∙ Uniprot:Q96A00 ∙ 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 PPP1R14A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R14A 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						0
missense			13	1		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	0

Variants in PPP1R14A

This is a list of pathogenic ClinVar variants found in the PPP1R14A region.

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

Position	Type	Phenotype	Significance	ClinVar
19-38251334-C-T		not specified	Uncertain significance (Jul 21, 2021)
19-38251340-C-G		not specified	Uncertain significance (Dec 07, 2023)
19-38251340-C-T		not specified	Uncertain significance (Jan 23, 2023)
19-38251347-G-T		not specified	Uncertain significance (Sep 22, 2022)
19-38251350-G-C		not specified	Uncertain significance (Jun 02, 2023)
19-38251373-G-T		not specified	Uncertain significance (Mar 19, 2024)
19-38251388-C-A		not specified	Uncertain significance (Jan 20, 2023)
19-38251388-C-T		not specified	Uncertain significance (Dec 02, 2022)
19-38251434-C-G		not specified	Uncertain significance (Mar 31, 2024)
19-38252315-T-A		not specified	Likely benign (Feb 05, 2024)
19-38252904-C-T		not specified	Uncertain significance (Aug 30, 2022)
19-38252905-G-A		not specified	Uncertain significance (Jul 21, 2021)
19-38256231-C-T		not specified	Uncertain significance (May 04, 2023)
19-38256281-G-A		not specified	Uncertain significance (Apr 26, 2024)
19-38256312-C-A		not specified	Uncertain significance (Feb 10, 2022)
19-38256312-C-G		not specified	Uncertain significance (Oct 04, 2022)
19-38256321-C-T		not specified	Uncertain significance (Dec 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R14A	protein_coding	protein_coding	ENST00000301242	4	5355

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.127	0.788	125734	0	4	125738	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.558	61	74.6	0.818	0.00000369	908
Missense in Polyphen		21	35.574	0.59031		457
Synonymous	0.892	27	33.6	0.804	0.00000164	298
Loss of Function	1.38	2	5.48	0.365	2.30e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000754	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitor of PPP1CA. Has over 1000-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction.
• Pathway: Vascular smooth muscle contraction - Homo sapiens (human);Signal Transduction;pkc-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase;RHO GTPases activate PKNs;activation of pkc through g-protein coupled receptors;RHO GTPase Effectors;Signaling by Rho GTPases;Integrin-linked kinase signaling (Consensus)

Recessive Scores

• pRec: 0.182

Haploinsufficiency Scores

• pHI: 0.206
• hipred: Y
• hipred_score: 0.506
• ghis: 0.599

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.814

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ppp1r14a

Gene ontology

• Biological process: negative regulation of phosphoprotein phosphatase activity;cellular response to drug;regulation of phosphorylation
• Cellular component: cytosol
• Molecular function: protein serine/threonine phosphatase inhibitor activity