PPP1R36

protein phosphatase 1 regulatory subunit 36, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 14:64549920-64589381

Previous symbols: [ "C14orf50" ]

Links

ENSG00000165807 ∙ NCBI:145376 ∙ OMIM:619923 ∙ HGNC:20097 ∙ Uniprot:Q96LQ0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PPP1R36 gene.

• not_specified (60 variants)
• not_provided (3 variants)
• Autism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPP1R36 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000172365.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			58	2	2	62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	59	2	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPP1R36	protein_coding	protein_coding	ENST00000298705	12	39479

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.71e-10	0.381	125623	0	125	125748	0.000497

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.165	221	228	0.969	0.0000121	2774
Missense in Polyphen		58	59.984	0.96693		806
Synonymous	0.941	67	77.5	0.864	0.00000399	755
Loss of Function	1.03	18	23.4	0.770	0.00000127	295

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00199	0.00189
Ashkenazi Jewish	0.00	0.00
East Asian	0.000980	0.000979
Finnish	0.00	0.00
European (Non-Finnish)	0.000310	0.000308
Middle Eastern	0.000980	0.000979
South Asian	0.00104	0.00101
Other	0.000363	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. {ECO:0000269|PubMed:19389623}.

Intolerance Scores

• rvis_EVS: 1.11
• rvis_percentile_EVS: 92.06

Haploinsufficiency Scores

• pHI: 0.0831
• hipred: N
• hipred_score: 0.123
• ghis: 0.416

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	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ppp1r36

Gene ontology

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