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.

not_specified (217 variants)
not_provided (2 variants)

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. These statistics are base on transcript: NM_000014811.5. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			191 clinvar	26 clinvar		217
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	191	28	0

Loading clinvar variants...

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

loftool
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