VIPR2

Chr 7

vasoactive intestinal peptide receptor 2

Also known as: C16DUPq36.3, DUP7q36.3, PACAP-R-3, PACAP-R3, VIP-R-2, VPAC2, VPAC2R, VPCAP2R

NCBI Gene: 7434ENSG00000106018UniProt: P41587

This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011]

191
ClinVar variants
84
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— VIPR2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
84 Pathogenic / Likely Pathogenic· 88 VUS of 191 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.05LOEUF
pLI 0.000
Z-score 1.35
OE 0.72 (0.51–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.28Z-score
OE missense 0.95 (0.85–1.06)
230 obs / 242.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.72 (0.51–1.05)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.95 (0.85–1.06)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 20 / 27.7Missense obs/exp: 230 / 242.4Syn Z: -0.28

ClinVar Variant Classifications

191 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic77
Likely Pathogenic7
VUS88
Likely Benign13
Benign6
77
Pathogenic
7
Likely Pathogenic
88
VUS
13
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
77
0
77
Likely Pathogenic
0
0
7
0
7
VUS
0
52
36
0
88
Likely Benign
0
3
6
4
13
Benign
0
1
3
2
6
Total0561296191

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

VIPR2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
📖
GeneReview available — VIPR2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Myopia pathogenesis and vasoactive intestinal peptide: Molecular mechanisms, experimental models, and clinical implications.
Grubsic C et al.·Exp Eye Res
2026Review
Outdoor time influences VIPR2 polymorphism rs2071623 to regulate axial length in Han Chinese children.
He X et al.·Mol Vis
2023
Identification of rare mutations of the vasoactive intestinal peptide receptor 2 gene in schizophrenia.
Chen CH et al.·Psychiatr Genet
2022
Copy number variations in neurodevelopmental disorders.
Grayton HM et al.·Prog Neurobiol
2012Review
Predictive Genes for the Prognosis of Central Serous Chorioretinopathy.
Hosoda Y et al.·Ophthalmol Retina
2019
[Pathophysiological implication of the VPAC2 receptor in psychiatric disorders].
Ago Y et al.·Nihon Yakurigaku Zasshi
2018Review
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Firouzabadi SG et al.·Mol Neurobiol
2017Cohort
Dosage sensitivity intolerance of VIPR2 microduplication is disease causative to manifest schizophrenia-like phenotypes in a novel BAC transgenic mouse model.
Tian X et al.·Mol Psychiatry
2019Functional
Selective VIP Receptor Agonists Facilitate Immune Transformation for Dopaminergic Neuroprotection in MPTP-Intoxicated Mice.
Olson KE et al.·J Neurosci
2015
A competitive PCR assay confirms the association of a copy number variation in the VIPR2 gene with schizophrenia in Han Chinese.
Yuan J et al.·Schizophr Res
2014
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools