GPR137

protein-coding

G protein-coupled receptor 137, the group of 7TM uncharacterized proteins

Gene summary

Predicted to be involved in several processes, including negative regulation of bone resorption; negative regulation of osteoclast differentiation; and positive regulation of TORC1 signaling. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001170880.2

Inheritance

—

ClinVar variants

U:26

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.19

Max pathogenic AF

—

Genomic locus

chr11:64,270,062-64,289,494

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~19.4 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 GPR137 variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 21

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001170880.2. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
24
clinvar
24
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total00260026
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 67 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001170880.2RefSeqNP_001164351.17MANE Select
ENST00000438980.7EnsemblENSP00000415698.27MANE Select
NM_001170881.2RefSeqNP_001164352.16Standard
NM_001177358.2RefSeqNP_001170829.16Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000411458
Coding exons
9
Length
19439
Individuals with no LoFs
125734
Homozygous LoFs
0
Heterozygous LoFs
12
Defined
125746
p
0.0000477
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.042442940.8290.00001872982
Missense (PolyPhen)6296.8550.640131084
Synonymous0.4131251310.9540.000008191079
Loss of Function3.44421.10.1900.00000116205

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian0.0000540.000054rare
Finnish00.0absent
European (Non-Finnish)0.0000890.000088rare
South Asian00.0absent
Other0.000170.00016rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec
0.103

Intolerance Scores

LoFtool
0.601
RVIS EVS
-0.42
RVIS percentile EVS
25.56

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.143

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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