PPP1R35

protein-coding

protein phosphatase 1 regulatory subunit 35, the group of Protein phosphatase 1 regulatory subunits

Gene summary

Predicted to enable phosphatase binding activity and protein phosphatase inhibitor activity. Involved in positive regulation of centriole elongation. Located in centriole and centrosome. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C7orf47

MANE transcript

NM_145030.4

Inheritance

—

ClinVar variants

U:55B:2

Top phenotype

Progressive microcephaly

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr7:100,435,282-100,436,497

External References & Databases

Ensembl (ENSG00000160813)

Transcript & Mutation Effects

hg38 • Region Span ~1.2 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PPP1R35 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 48

not providedTotal: 1

Progressive microcephalyTotal: 1

See casesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145030.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			48 clinvar	2 clinvar		50
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	55	2	0	57

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145030.4	RefSeq	NP_659467.1	4	MANE Select
ENST00000292330.3	Ensembl	ENSP00000292330.2	4	MANE Select
NM_001346938.2	RefSeq	NP_001333867.1	3	Standard
ENST00000966125.1	Ensembl	ENSP00000636184.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of phosphatase activity
negative regulation of phosphoprotein phosphatase activity

Molecular Function

protein phosphatase inhibitor activity
phosphatase binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000292330
Coding exons: 4
Length: 1284
Individuals with no LoFs: 125661
Homozygous LoFs: 0
Heterozygous LoFs: 45
Defined: 125706
p: 0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0493	126	124	1.01	0.00000590	1553
Missense (PolyPhen)		44	47.708	0.92229		583
Synonymous	-1.25	69	57.0	1.21	0.00000271	574
Loss of Function	0.950	4	6.64	0.602	2.86e-7	90

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000066	0.000062	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000058	0.000054	rare
Finnish	0.00058	0.00055	rare
European (Non-Finnish)	0.00020	0.00018	rare
South Asian	0.00014	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Inhibits PPP1CA phosphatase activity. {ECO:0000269|PubMed:19389623}.;

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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