PPP1R18

protein phosphatase 1 regulatory subunit 18, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 6:30676389-30687895

Previous symbols: [ "KIAA1949" ]

Links

ENSG00000146112 ∙ NCBI:170954 ∙ OMIM:610990 ∙ HGNC:29413 ∙ Uniprot:Q6NYC8 ∙ 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 PPP1R18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R18 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			49	3	3	55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	49	3	3

Variants in PPP1R18

This is a list of pathogenic ClinVar variants found in the PPP1R18 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-30677273-C-T			Benign (Jan 12, 2018)
6-30677276-C-G		not specified	Uncertain significance (Dec 01, 2022)
6-30677276-C-T		not specified	Uncertain significance (May 03, 2023)
6-30677277-G-A		not specified	Uncertain significance (Jan 31, 2025)
6-30677288-T-C		not specified	Uncertain significance (May 10, 2024)
6-30679199-C-G		not specified	Uncertain significance (Feb 27, 2025)
6-30679258-G-T			Likely benign (Jul 01, 2022)
6-30679290-T-A		not specified	Uncertain significance (Aug 21, 2023)
6-30679292-G-A		not specified	Uncertain significance (Mar 01, 2023)
6-30679335-C-T		not specified	Uncertain significance (Dec 05, 2022)
6-30684425-C-T		not specified	Uncertain significance (Aug 16, 2021)
6-30684494-C-T		not specified	Uncertain significance (Mar 21, 2023)
6-30684506-G-A		not specified	Uncertain significance (Aug 21, 2023)
6-30684586-C-T		not specified	Uncertain significance (Mar 28, 2023)
6-30684590-G-A		not specified	Uncertain significance (Apr 25, 2022)
6-30684595-T-C		not specified	Uncertain significance (Jun 11, 2021)
6-30684619-C-A		not specified	Uncertain significance (Jan 03, 2024)
6-30684623-G-A		not specified	Uncertain significance (Apr 13, 2022)
6-30684628-G-C		not specified	Uncertain significance (Jan 07, 2025)
6-30684629-C-G		not specified	Uncertain significance (Dec 07, 2024)
6-30684646-G-C		not specified	Uncertain significance (Nov 11, 2024)
6-30684718-G-C		not specified	Uncertain significance (Apr 05, 2023)
6-30684742-G-C		not specified	Uncertain significance (Nov 14, 2024)
6-30684803-C-G		not specified	Uncertain significance (Jul 06, 2021)
6-30684854-G-A		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R18	protein_coding	protein_coding	ENST00000274853	3	11507

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000503	0.998	122612	0	27	122639	0.000110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	275	326	0.843	0.0000184	3832
Missense in Polyphen		79	109.39	0.72218		1220
Synonymous	1.23	119	137	0.866	0.00000725	1359
Loss of Function	2.82	10	25.3	0.395	0.00000153	258

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000204	0.000198
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000105	0.0000927
European (Non-Finnish)	0.000168	0.000163
Middle Eastern	0.00	0.00
South Asian	0.000103	0.0000988
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1: May target protein phosphatase 1 to F-actin cytoskeleton. {ECO:0000269|PubMed:24434620}.
• Pathway: TYROBP Causal Network (Consensus)

Intolerance Scores

• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.49

Haploinsufficiency Scores

• pHI: 0.155
• hipred: Y
• hipred_score: 0.566
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppp1r18

Gene ontology

• Cellular component: cytoplasm;cytoskeleton
• Molecular function: actin binding;protein binding;phosphatase binding