GPR107

protein-coding

G protein-coupled receptor 107, the group of 7TM uncharacterized proteins

Gene summary

Predicted to enable clathrin heavy chain binding activity. Predicted to be involved in clathrin-dependent endocytosis. Predicted to be located in early endosome and plasma membrane. Predicted to be active in Golgi apparatus; clathrin-coated vesicle; and membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_020960.5

Inheritance

—

ClinVar variants

U:84B:2

Top phenotype

Failure of ossification of pubic bones, ischii, triradiate cartilages

gnomAD constraint

pLI —, LoF o/e 0.23

Max pathogenic AF

—

Genomic locus

chr9:130,053,426-130,140,169

External References & Databases

Ensembl (ENSG00000148358)

Transcript & Mutation Effects

hg38 • Region Span ~86.7 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 GPR107 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 80

Failure of ossification of pubic bones, ischii, triradiate cartilagesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020960.5. 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			2 clinvar			2
missense			74 clinvar	2 clinvar		76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	84	2	0	86

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020960.5	RefSeq	NP_066011.2	18	MANE Select
ENST00000347136.11	Ensembl	ENSP00000336988.7	18	MANE Select
NM_001136557.2	RefSeq	NP_001130029.1	20	Standard
NM_001136558.2	RefSeq	NP_001130030.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

clathrin-dependent endocytosis

Molecular Function

clathrin heavy chain binding

Cellular Component

nucleoplasm
early endosome
Golgi apparatus
integral component of membrane
clathrin-coated vesicle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372406
Coding exons: 20
Length: 86744
Individuals with no LoFs: 125733
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125746
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.82	219	309	0.708	0.0000156	3901
Missense (PolyPhen)		40	80.05	0.49969		1027
Synonymous	-0.129	123	121	1.01	0.00000661	1145
Loss of Function	4.17	8	34.4	0.232	0.00000162	430

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in Golgi-to-ER retrograde transport. Functions as a host factor required for infection by Pseudomonas aeruginosa exotoxin A and Campylobacter jejuni CDT toxins. {ECO:0000269|PubMed:25031321}.;

Recessive Scores

pRec: 0.0856

Intolerance Scores

LoFtool: 0.111
RVIS EVS: -0.44
RVIS percentile EVS: 24.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): K
Indispensability pred.: N
Indispensability score: 0.249

Gene Damage Prediction

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