GPR108

protein-coding

G protein-coupled receptor 108, the group of 7TM uncharacterized proteins|MicroRNA protein coding host genes

Gene summary

Predicted to enable molecular adaptor activity. Predicted to be involved in negative regulation of toll-like receptor signaling pathway. Predicted to act upstream of or within defense response to virus; protein catabolic process; and type I interferon-mediated signaling pathway. Located in trans-Golgi network. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001080452.2

Inheritance

—

ClinVar variants

U:97B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr19:6,729,914-6,737,580

External References & Databases

Ensembl (ENSG00000125734)

Transcript & Mutation Effects

hg38 • Region Span ~7.7 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 GPR108 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 87

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080452.2. 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			5 clinvar	1 clinvar		6
missense			83 clinvar	7 clinvar		90
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	97	8	0	105

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 68 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080452.2	RefSeq	NP_001073921.1	18	MANE Select
ENST00000264080.12	Ensembl	ENSP00000264080.5	18	MANE Select
NM_001394714.1	RefSeq	NP_001381643.1	10	Standard
NM_001394715.1	RefSeq	NP_001381644.1	10	Standard

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: ENST00000264080
Coding exons: 18
Length: 7690
Individuals with no LoFs: 124730
Homozygous LoFs: 0
Heterozygous LoFs: 107
Defined: 124837
p: 0.000429

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.528	299	326	0.918	0.0000195	3508
Missense (PolyPhen)		79	92.962	0.84981		1061
Synonymous	0.0392	143	144	0.996	0.00000967	1050
Loss of Function	1.27	24	31.7	0.756	0.00000145	364

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00078	0.00072	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00051	0.00050	rare
South Asian	0.00088	0.00088	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.759
RVIS EVS: 0.27
RVIS percentile EVS: 70.64

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.992

Gene Damage Prediction

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