PPP1R27

protein-coding

protein phosphatase 1 regulatory subunit 27, the group of Protein phosphatase 1 regulatory subunits|Ankyrin repeat domain containing

Gene summary

Enables phosphatase binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

DYSFIP1

MANE transcript

NM_001007533.4

Inheritance

—

ClinVar variants

U:24B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.03

Max pathogenic AF

—

Genomic locus

chr17:81,833,492-81,835,050

External References & Databases

Ensembl (ENSG00000182676)

Transcript & Mutation Effects

hg38 • Region Span ~1.6 kb

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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 PPP1R27 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 26

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001007533.4. 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						0
missense			24 clinvar	2 clinvar		26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	24	2	0	26

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001007533.4	RefSeq	NP_001007534.1	3	MANE Select
ENST00000330261.5	Ensembl	ENSP00000331065.4	3	MANE Select
ENST00000570394.1	Ensembl	ENSP00000459421.1	2	Standard
ENST00000570394.2	Ensembl	ENSP00000459421.1	2	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
protein binding
phosphatase binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000330261
Coding exons: 3
Length: 1559
Individuals with no LoFs: 125629
Homozygous LoFs: 1
Heterozygous LoFs: 23
Defined: 125653
p: 0.0000955

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.260	100	108	0.930	0.00000737	975
Missense (PolyPhen)		40	39.797	1.0051		368
Synonymous	-0.719	49	43.0	1.14	0.00000250	326
Loss of Function	-0.0751	6	5.80	1.03	3.31e-7	57

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000090	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.00038	0.00028	rare
European (Non-Finnish)	0.000085	0.000079	rare
South Asian	0.000070	0.000065	rare
Other	0.00037	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.105

Intolerance Scores

RVIS EVS: -0.32
RVIS percentile EVS: 31.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): H
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