MC4R

Chr 18ADAR

melanocortin 4 receptor

Also known as: BMIQ20

NCBI Gene: 4160ENSG00000166603UniProt: P32245OMIM: 155541

The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Obesity, resistance to (BMIQ20)}MIM #618406
ADAR
Obesity (BMIQ20)MIM #618406
ADAR
9
Active trials
268
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.60
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — MC4R
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.60LOEUF
pLI 0.001
Z-score 0.48
OE 0.79 (0.41–1.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.01Z-score
OE missense 1.21 (1.08–1.36)
218 obs / 179.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.79 (0.41–1.60)
0≤0.351.4
Missense OE?1.21 (1.08–1.36)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 5 / 6.3Missense obs/exp: 218 / 179.9Syn Z: -0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MC4R · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Morbid ObesityBariatric SurgeryTelerehabilitation

Exercise to Fight Obesity

RECRUITING
NCT06934681Phase NAInstituto de Investigacion Sanitaria La FeStarted 2025-05-19
Usual Care GroupControlled exercise with telerehabilitation
Obesity and Obesity-related Medical Conditions

Precision Nutrition Technologies for Obesity Management

NOT YET RECRUITING
NCT07101133Phase NAYuan HeStarted 2025-07-27
Control group: Energy-limited balanced diet group
Obesity and Obesity-related Medical ConditionsCardiovascular RiskGenetics

Cardiometabolic Risk of Obese Subjects: Cross-sectional Study

RECRUITING
NCT06714058IRCCS Azienda Ospedaliero-Universitaria di BolognaStarted 2024-11-30
Obesity

Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.

RECRUITING
NCT01998750Columbia UniversityStarted 2014-02
Obesity

Intensive Weight Loss Intervention Versus Usual Care for Adults With Obesity

ACTIVE NOT RECRUITING
NCT06321432Phase NACarsten DirksenStarted 2024-06-05
Intensive weight loss interventionUsual care
Obesity

Intensive Weight Loss Intervention Versus Usual Care for Adults With Severe and Complex Obesity

ACTIVE NOT RECRUITING
NCT06321458Phase NACarsten DirksenStarted 2024-04-29
Intensive weight loss interventionUsual care
Obesity

Intensive Weight Loss Intervention Versus Bariatric Surgery for Adults With Severe and Complex Obesity: the LightBAR Randomised Trial

RECRUITING
NCT06309238Phase NACarsten DirksenStarted 2024-05-08
Intensive weight loss interventionBariatric surgery
Monogenic Obesity

Efficacy of Semaglutide s.c. Once-weekly on Weight Loss and Management in Adolescents With Monogenic Obesity in Clinical Practice

RECRUITING
NCT07302802Prof. Dr. Martin WabitschStarted 2025-12-01
Semaglutide (administered by PDS290 pen-injector)
Obesity Prevention

Assessing Obesity Related Risk Factors in Adult Population: A Genetic and Behavioral Study

ENROLLING BY INVITATION
NCT07341841Phase NAAugusta UniversityStarted 2026-01-01
Diet and exerciseLifestyle InterventionExercise

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients