NPY2R
protein-codingneuropeptide Y receptor Y2, the group of Neuropeptide Y receptors
Gene summary
Enables G-protein alpha-subunit binding activity and peptide YY receptor activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; cardiac left ventricle morphogenesis; and outflow tract morphogenesis. Located in cilium and plasma membrane. Implicated in several diseases, including Huntington's disease; alcohol dependence; cocaine dependence; nicotine dependence; and obesity (multiple). Biomarker of peripheral artery disease and temporal lobe epilepsy. [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 ~8.4 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 NPY2R variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000910.4. 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 | 3 | 6 | |||
| missense | 40 | 2 | 1 | 43 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 40 | 5 | 4 | 49 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000901.1 | 1 | MANE Select | |
| Ensembl | ENSP00000332591.3 | 1 | MANE Select | |
| RefSeq | NP_001357109.1 | 1 | Standard | |
| RefSeq | NP_001362399.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Neuroactive ligand-receptor interaction - Homo sapiens (human)
- Sympathetic Nerve Pathway (Neuroeffector Junction)
- Peptide GPCRs
- GPCRs, Class A Rhodopsin-like
- Signaling by GPCR
Biological Process
- behavioral fear response
- positive regulation of peptide secretion
- outflow tract morphogenesis
- cardiac left ventricle morphogenesis
- G protein-coupled receptor signaling pathway
Molecular Function
- peptide YY receptor activity
- neuropeptide Y receptor activity
- calcium channel regulator activity
- protein binding
- signaling receptor activity
Cellular Component
- plasma membrane
- integral component of plasma membrane
- non-motile cilium
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000329476
- Coding exons
- 1
- Length
- 8450
- Individuals with no LoFs
- 125731
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 16
- Defined
- 125747
- p
- 0.0000636
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.812 | 178 | 211 | 0.843 | 0.0000112 | 2496 |
| Missense (PolyPhen) | 51 | 80.009 | 0.63743 | 961 | ||
| Synonymous | -1.28 | 101 | 85.9 | 1.18 | 0.00000471 | 786 |
| Loss of Function | 1.85 | 4 | 10.5 | 0.383 | 6.16e-7 | 120 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000079 | 0.000079 | rare |
| South Asian | 0.000065 | 0.000065 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PYY > NPY > PYY (3-36) > NPY (2-36) > [Ile-31, Gln-34] PP > [Leu- 31, Pro-34] NPY > PP, [Pro-34] PYY and NPY free acid.;
Recessive Scores
- pRec
- 0.158
Intolerance Scores
- RVIS EVS
- -0.58
- RVIS percentile EVS
- 18.59
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.170
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |