GPR171
protein-codingG protein-coupled receptor 171, the group of G protein-coupled receptors, Class A orphans
Gene summary
Predicted to enable G protein-coupled purinergic nucleotide receptor activity; neuropeptide binding activity; and neuropeptide receptor activity. Predicted to be involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; regulation of feeding behavior; and regulation of sensory perception of pain. Predicted to act upstream of or within negative regulation of myeloid cell differentiation. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~5.4 kbGenCC 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 GPR171 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_013308.4. 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 | 3 | 1 | 4 | |||
| missense | 36 | 2 | 38 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 36 | 5 | 1 | 42 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_037440.3 | 1 | MANE Select | |
| Ensembl | ENSP00000308479.5 | 1 | MANE Select | |
| Ensembl | ENSP00000420109.1 | 1 | Standard | |
| Ensembl | ENSP00000482588.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- GPCRs, Class A Rhodopsin-like
Biological Process
- G protein-coupled receptor signaling pathway
- G protein-coupled purinergic nucleotide receptor signaling pathway
- negative regulation of myeloid cell differentiation
Molecular Function
- G protein-coupled receptor activity
- G protein-coupled purinergic nucleotide receptor activity
Cellular Component
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000309180
- Coding exons
- 1
- Length
- 5370
- Individuals with no LoFs
- 125714
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 14
- Defined
- 125728
- p
- 0.0000557
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.20 | 127 | 171 | 0.742 | 0.00000862 | 2094 |
| Missense (PolyPhen) | 39 | 65.678 | 0.5938 | 822 | ||
| Synonymous | -0.375 | 68 | 64.2 | 1.06 | 0.00000347 | 617 |
| Loss of Function | 0.912 | 7 | 10.1 | 0.691 | 6.64e-7 | 118 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00014 | 0.00014 | rare |
| European (Non-Finnish) | 0.000053 | 0.000053 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Orphan receptor.;
Intolerance Scores
- LoFtool
- 0.460
- RVIS EVS
- -0.21
- RVIS percentile EVS
- 38.58
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.306
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |