PPP1R26

protein phosphatase 1 regulatory subunit 26, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 9:135479079-135488893

Previous symbols: [ "KIAA0649" ]

Links

ENSG00000196422 ∙ NCBI:9858 ∙ OMIM:614056 ∙ HGNC:29089 ∙ Uniprot:Q5T8A7 ∙ 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 PPP1R26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R26 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				2		2
missense			124	16		140
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	124	18	0

Variants in PPP1R26

This is a list of pathogenic ClinVar variants found in the PPP1R26 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-135484526-G-A		not specified	Uncertain significance (Oct 29, 2021)
9-135484527-C-T		not specified	Uncertain significance (Oct 26, 2022)
9-135484563-C-G		not specified	Uncertain significance (May 14, 2024)
9-135484572-C-T		not specified	Uncertain significance (Dec 14, 2024)
9-135484592-C-A		not specified	Uncertain significance (Aug 28, 2023)
9-135484595-A-G		not specified	Likely benign (Sep 02, 2024)
9-135484631-G-C		not specified	Uncertain significance (Oct 06, 2021)
9-135484632-C-T		not specified	Uncertain significance (Dec 01, 2022)
9-135484635-C-G		not specified	Uncertain significance (Jun 10, 2022)
9-135484646-C-T		not specified	Uncertain significance (Jun 17, 2024)
9-135484649-G-T		not specified	Uncertain significance (Apr 24, 2023)
9-135484679-G-A		not specified	Uncertain significance (Oct 29, 2024)
9-135484682-G-A		not specified	Uncertain significance (Jun 24, 2022)
9-135484692-G-A		not specified	Uncertain significance (Jan 18, 2022)
9-135484710-G-A		not specified	Likely benign (Jan 31, 2024)
9-135484712-G-A		not specified	Uncertain significance (Mar 19, 2024)
9-135484775-G-A		not specified	Uncertain significance (Mar 07, 2025)
9-135484775-G-C		not specified	Uncertain significance (Jul 15, 2021)
9-135484793-G-A		not specified	Likely benign (Dec 19, 2022)
9-135484850-A-G		not specified	Likely benign (Jan 09, 2025)
9-135484851-C-T		not specified	Uncertain significance (Apr 04, 2023)
9-135484863-C-G		not specified	Uncertain significance (May 20, 2024)
9-135484961-G-A		not specified	Uncertain significance (Aug 10, 2023)
9-135485012-G-A		not specified	Uncertain significance (Sep 22, 2022)
9-135485079-T-G		not specified	Uncertain significance (Aug 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R26	protein_coding	protein_coding	ENST00000356818	1	9815

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0718	744	739	1.01	0.0000471	7801
Missense in Polyphen		143	160.57	0.89056		1549
Synonymous	-1.19	371	343	1.08	0.0000262	2549
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. May positively regulate cell proliferation. {ECO:0000269|PubMed:16053918, ECO:0000269|PubMed:19389623}.

Recessive Scores

• pRec: 0.100

Intolerance Scores

• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.48

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.360
• ghis: 0.498

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ppp1r26
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of phosphatase activity;negative regulation of phosphoprotein phosphatase activity
• Cellular component: nucleolus
• Molecular function: protein phosphatase inhibitor activity;protein binding