GPR137B

Chr 1

G protein-coupled receptor 137B

Also known as: TM7SF1

NCBI Gene: 7107 ENSG00000077585 UniProt: O60478 OMIM: 604658

GPR137B encodes a lysosomal integral membrane protein that regulates mTORC1 signaling complex localization and activity by interacting with Rag GTPases, and controls lysosomal morphology and autophagy. Mutations cause autosomal recessive developmental delays and seizures. This gene shows minimal constraint against loss-of-function variants based on population data.

OMIM ResearchSummary from RefSeq, UniProt

Involved in positive regulation of TORC1 signaling; positive regulation of protein localization to lysosome; and regulation of autophagy. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in GPR137B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

527 rare PASS variants

Rare truncating (LoF)

1 in 550

119 rare PASS variants

Rare synonymous (reference)

1 in 250

241 rare PASS variants

Rare missense and truncating variants are carried at similar rates in GPR137B; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 140	1 in 490
South Asian	~43k	1 in 130	1 in 710
Remaining (unassigned)	~30k	1 in 88	1 in 790
European (Finnish)	~27k	1 in 210	1 in 990
Admixed American	~22k	1 in 140	1 in 720
African / African American	~21k	1 in 76	1 in 970
East Asian	~20k	1 in 120	1 in 470
Ashkenazi Jewish	~13k	1 in 390	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 120	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 6 of 7 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 7.? see exons ↓