GPR137B

protein-coding

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

Gene summary

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]

Previous symbols:

TM7SF1

MANE transcript

NM_003272.4

Inheritance

—

ClinVar variants

U:60

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.89

Max pathogenic AF

—

Genomic locus

chr1:236,142,505-236,221,865

External References & Databases

Ensembl (ENSG00000077585)

Transcript & Mutation Effects

hg38 • Region Span ~79.4 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 GPR137B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 56

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003272.4. 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			58 clinvar			58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	60	0	0	60

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003272.4	RefSeq	NP_003263.1	7	MANE Select
ENST00000366592.8	Ensembl	ENSP00000355551.3	7	MANE Select
ENST00000419162.5	Ensembl	ENSP00000401841.2	2	Standard
ENST00000454895.2	Ensembl	ENSP00000395814.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

lysosomal membrane
integral component of plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000366592
Coding exons: 7
Length: 79334
Individuals with no LoFs: 125605
Homozygous LoFs: 0
Heterozygous LoFs: 143
Defined: 125748
p: 0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.240	229	219	1.05	0.0000111	2564
Missense (PolyPhen)		77	73.047	1.0541		951
Synonymous	0.225	95	97.8	0.971	0.00000518	814
Loss of Function	0.460	18	20.2	0.890	0.00000109	217

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00052	0.00052	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.00079	0.00079	rare
European (Non-Finnish)	0.00065	0.00065	rare
South Asian	0.00082	0.00082	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.116

Intolerance Scores

LoFtool: 0.855
RVIS EVS: -0.4
RVIS percentile EVS: 26.53

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0642

Gene Damage Prediction

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