PRLHR
protein-codingprolactin releasing hormone receptor, the group of Peptide receptors
Gene summary
Predicted to enable neuropeptide receptor activity. Predicted to be involved in feeding behavior and neuropeptide signaling pathway. Predicted to act upstream of or within G protein-coupled receptor signaling pathway; adult feeding behavior; and hormone metabolic process. Located in cilium. Implicated in hypertension. [provided by Alliance of Genome Resources, Jun 2026]
- GPR10
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~5.7 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 PRLHR variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_004248.3. 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 | 1 | 1 | ||||
| missense | 61 | 1 | 62 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 61 | 1 | 1 | 63 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_004239.2 | 1 | MANE Select | |
| Ensembl | ENSP00000239032.2 | 1 | MANE Select | |
| Ensembl | ENSP00000490073.1 | 1 | Standard | |
| Ensembl | ENSP00000567017.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Neuroactive ligand-receptor interaction - Homo sapiens (human)
- GPCRs, Class A Rhodopsin-like
- Signaling by GPCR
- Signal Transduction
- Peptide ligand-binding receptors
Biological Process
- G protein-coupled receptor signaling pathway
- neuropeptide signaling pathway
- female pregnancy
- feeding behavior
- hormone metabolic process
Molecular Function
- G protein-coupled receptor activity
- neuropeptide Y receptor activity
- protein binding
- neuropeptide receptor activity
Cellular Component
- plasma membrane
- integral component of plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000239032
- Coding exons
- 1
- Length
- 2245
- Individuals with no LoFs
- 125635
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 45
- Defined
- 125680
- p
- 0.000179
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.406 | 250 | 233 | 1.07 | 0.0000129 | 2279 |
| Missense (PolyPhen) | 101 | 92.815 | 1.0882 | 957 | ||
| Synonymous | 0.471 | 109 | 115 | 0.944 | 0.00000681 | 854 |
| Loss of Function | 0.553 | 7 | 8.77 | 0.799 | 3.80e-7 | 82 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00032 | 0.00031 | rare |
| Latino/Admixed American | 0.00032 | 0.00032 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000072 | 0.000070 | rare |
| South Asian | 0.00056 | 0.00056 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing.;
Recessive Scores
- pRec
- 0.146
Intolerance Scores
- LoFtool
- 0.633
- RVIS EVS
- 0.46
- RVIS percentile EVS
- 78.46
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.894
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |