MCHR2

Chr 6

melanin concentrating hormone receptor 2

Also known as: GPR145, GPRv17, MCH-2R, MCH-R2, MCH2, MCH2R, MCHR-2, SLT

NCBI Gene: 84539ENSG00000152034UniProt: Q969V1

Predicted to enable G protein-coupled peptide receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

70
ClinVar variants
17
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MCHR2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
17 Pathogenic / Likely Pathogenic· 50 VUS of 70 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.
1.20LOEUF
pLI 0.000
Z-score 1.02
OE 0.71 (0.43–1.20)
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.
0.51Z-score
OE missense 0.89 (0.78–1.02)
161 obs / 180.3 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.0.71 (0.43–1.20)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.89 (0.78–1.02)
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.1.05
0≤1.21.6
LoF obs/exp: 10 / 14.2Missense obs/exp: 161 / 180.3Syn Z: -0.32

ClinVar Variant Classifications

70 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
VUS50
Likely Benign1
Benign2
17
Pathogenic
50
VUS
1
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
0
0
0
VUS
0
42
8
0
50
Likely Benign
0
0
0
1
1
Benign
0
0
0
2
2
Total04225370

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

View in ClinVar →

Protein Context — Lollipop Plot

MCHR2 · 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
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders.
Strom NI et al.·Biol Psychiatry
2025Meta-analysis
DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients.
Geets E et al.·Obes Res Clin Pract
2018Cohort
Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity.
Ghoussaini M et al.·J Clin Endocrinol Metab
2007
Genome-wide analysis of a model-derived binge eating disorder phenotype identifies risk loci and implicates iron metabolism.
Burstein D et al.·Nat Genet
2023Functional
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology.
Bovijn J et al.·Am J Hum Genet
2019
Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.
Cutillo G et al.·Seizure
2023Case report
The role of melanin-concentrating hormone in energy homeostasis and mood disorders.
Antal-Zimanyi I et al.·J Mol Neurosci
2009Review
Two complex genotypes relevant to the kynurenine pathway and melanotropin function show association with schizophrenia and bipolar disorder.
Miller CL et al.·Schizophr Res
2009
Characterization of ciliary targeting sequence of rat melanin-concentrating hormone receptor 1.
Nagata A et al.·Gen Comp Endocrinol
2013
Identification and characterization of single-nucleotide polymorphisms in MCH-R1 and MCH-R2.
Hawes BE et al.·Obes Res
2004
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