PPP1R37

protein-coding

protein phosphatase 1 regulatory subunit 37, the group of Protein phosphatase 1 regulatory subunits

Gene summary

Predicted to enable protein phosphatase inhibitor activity. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

LRRC68

MANE transcript

NM_019121.2

Inheritance

—

ClinVar variants

U:140B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.08

Max pathogenic AF

—

Genomic locus

chr19:45,091,396-45,148,077

External References & Databases

Ensembl (ENSG00000104866)

Transcript & Mutation Effects

hg38 • Region Span ~56.7 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 PPP1R37 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 139

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019121.2. 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			136 clinvar	5 clinvar		141
nonsense						0
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	140	5	0	145

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019121.2	RefSeq	NP_061994.1	12	MANE Select
ENST00000221462.9	Ensembl	ENSP00000221462.3	12	MANE Select
ENST00000544069.2	Ensembl	ENSP00000445252.1	4	Standard
ENST00000872788.1	Ensembl	ENSP00000542847.1	12	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

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000221462
Coding exons: 12
Length: 56682
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.27	278	407	0.683	0.0000270	4393
Missense (PolyPhen)		45	98.668	0.45608		1058
Synonymous	1.16	178	199	0.896	0.0000152	1460
Loss of Function	4.19	2	24.3	0.0824	0.00000104	316

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.0951

Essentials

Essential (CRISPR): N
Essential (CRISPR2): 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