Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4160
Gene name	Melanocortin 4 receptor
Gene symbol	MC4R
Synonyms (NCBI Gene)	BMIQ20
Chromosome	18
Chromosome location	18q21.32
Summary	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 thi

Show/Hide all (37)

SNP ID	Visualize variation	Clinical significance	Consequence
rs13447324	G>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs13447325	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs13447331	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs13447339	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs52804924	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs79783591	A>T	Pathogenic, uncertain-significance, benign	Coding sequence variant, missense variant
rs121913557	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913558	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913559	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121913560	T>C	Pathogenic	Missense variant, coding sequence variant
rs121913561	T>C	Pathogenic	Missense variant, coding sequence variant
rs121913562	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913563	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913564	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913565	T>C	Pathogenic	Missense variant, coding sequence variant
rs121913566	T>C	Pathogenic	Missense variant, coding sequence variant
rs121913567	G>A	Pathogenic	Missense variant, coding sequence variant
rs121917829	A>T	Pathogenic	Stop gained, coding sequence variant
rs187152753	C>T	Pathogenic	Missense variant, coding sequence variant
rs193922685	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922687	CA>-,CACA	Pathogenic	Frameshift variant, coding sequence variant
rs369841551	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs370479598	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs376439188	A>G	Pathogenic	Missense variant, coding sequence variant
rs549442687	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs747681609	C>T	Pathogenic	Coding sequence variant, missense variant
rs751160202	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs751914635	A>T	Pathogenic	Stop gained, coding sequence variant
rs756232889	A>G	Pathogenic	Coding sequence variant, missense variant
rs766665118	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs770293321	GT>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs772213710	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs772393451	A>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs942758928	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057517991	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555691353	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555691402	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT037223	hsa-miR-877-5p	CLASH	23622248

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	IEA
GO:0004977	Function	Melanocortin receptor activity	TAS	8794897
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IBA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IDA	14764818
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IEA
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Function	Protein binding	IPI	19329486, 19743876, 21719532
GO:0005737	Component	Cytoplasm	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10585465
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS	8794897
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007631	Process	Feeding behavior	IEA
GO:0007631	Process	Feeding behavior	TAS	9771698
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8392067
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19737927
GO:0032094	Process	Response to food	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0042923	Function	Neuropeptide binding	IMP	15927146
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0045780	Process	Positive regulation of bone resorption	IMP	16614075
GO:0060259	Process	Regulation of feeding behavior	IBA
GO:1903998	Process	Regulation of eating behavior	IEA
GO:1903998	Process	Regulation of eating behavior	ISS
GO:1990680	Process	Response to melanocyte-stimulating hormone	IEA
GO:1990680	Process	Response to melanocyte-stimulating hormone	ISS

MIM	HGNC	e!Ensembl
155541	6932	ENSG00000166603

P32245

Protein name

Melanocortin receptor 4 (MC4-R)

Protein function

Hormone receptor that acts as a key component of the leptin-melanocortin pathway at the intersection of homeostatic maintenance of energetic state (PubMed:32327598, PubMed:33858992). Plays a role in regulating food intake: activation by a stimul

PDB

6W25 , 7AUE , 7F53 , 7F54 , 7F55 , 7F58 , 7PIU , 7PIV , 8QJ2 , 8WKY , 8WKZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	61 → 302	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Brain, placental, and gut tissues.

Sequence

MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQLFVSPEVFVTLGVISLL
ENILVIVAIAKNKNLHSPMYFFICSLAVADMLVSVSNGSETIVITLLNSTDTDAQSFTVN
IDNVIDSVICSSLLASICSLLSIAVDRYFTIFYALQYHNIMTVKRVGIIISCIWAACTVS
GILFIIYSDSSAVIICLITMFFTMLALMASLYVHMFLMARLHIKRIAVLPGTGAIRQGAN
MKGAITLTILIGVFVVCWAPFFLHLIFYISCPQNPYCVCFMSHFNLYLILIMCNSIIDPL
IYALRSQELRKTFKEIICCYPLGGLCDLSSRY

Sequence length

332

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling		Peptide ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

292

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	Likely pathogenic; Pathogenic	rs13447332, rs2143967167, rs769342968, rs2143967182, rs746241281, rs13447338, rs2143966223, rs13447324, rs121913558, rs121913559, rs121913562, rs121913564, rs121917829, rs121913565, rs121913566 View all (10 more)	RCV001823788 RCV001733857 RCV001783633 RCV001823842 RCV002468457 RCV000015392 RCV000015393 RCV002504792 RCV000015397 RCV000015398 RCV000768578 RCV000015407 RCV000015408 RCV000015409 RCV000015410 RCV000015411 RCV002288974 RCV001753845 RCV000015413 RCV003144296 RCV002496462 RCV001262853 RCV001253485 RCV001253592 RCV001253372
Early onset severe obesity	Pathogenic; Likely pathogenic	rs121913562, rs747681609, rs1057517991, rs370479598	RCV006439574 RCV006441910 RCV006443339 RCV006438116
MC4R-related disorder	Likely pathogenic; Pathogenic	rs2143966828, rs13447332, rs2143967167, rs895704914, rs1333647919, rs121913559, rs13447338, rs121913562, rs747681609, rs1057517991, rs13447339, rs370479598, rs193922687, rs369841551, rs1915335064	RCV003394011 RCV003416408 RCV004749726 RCV004749741 RCV003417116 RCV003402630 RCV003407336 RCV004748523 RCV004748735 RCV004748749 RCV003935293 RCV003409697 RCV003415745 RCV004748902 RCV004749625
Monogenic diabetes	Likely pathogenic; Pathogenic	rs369841551	RCV000754806
Obesity	Likely pathogenic; Pathogenic	rs1288335099, rs1056909320, rs13447324, rs121913562, rs121913564, rs747681609, rs13447339, rs370479598, rs193922685, rs193922687, rs756232889, rs369841551	RCV002464551 RCV002464552 RCV000015394 RCV000015405 RCV000778539 RCV000332082 RCV001249014 RCV000583759 RCV000030155 RCV000030159 RCV000582923 RCV000709738
Obesity due to melanocortin 4 receptor deficiency	Likely pathogenic; Pathogenic	rs2143966828, rs13447332, rs13447324, rs121913562, rs121913564, rs121917829, rs121913566, rs1226923092, rs767325252, rs1568178659, rs747681609, rs370479598, rs193922687	RCV006249747 RCV004017856 RCV004017247 RCV004017248 RCV004017249 RCV004017250 RCV004017251 RCV004018393 RCV004018394 RCV004018395 RCV004017591 RCV004017653 RCV004017270
Obesity, autosomal dominant	Pathogenic; Likely pathogenic	rs751160202, rs13447339, rs370479598	RCV000194758 RCV000500812 RCV000501559
Schizophrenia	Pathogenic	rs13447324	RCV000202583
See cases	Pathogenic	rs13447324	RCV004797761

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Inherited obesity	Uncertain significance; Conflicting classifications of pathogenicity	rs2143966570, rs13447328, rs138281308	RCV001795590 RCV004555966 RCV003323279
MC4R POLYMORPHISM	Benign	rs2229616	RCV000768671
OBESITY, RESISTANCE TO	Benign	rs2229616	RCV000768672

Show/Hide Text Mining Associations (85)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	31167208
Alopecia	Associate	31429705
Alstrom Syndrome	Associate	36356613
Anorexia	Stimulate	36323255
Anxiety	Associate	36123585
Apraxias	Associate	36356613
Arthritis Rheumatoid	Associate	18839399, 28426141
Attention Deficit Disorder with Hyperactivity	Associate	23493066
Avoidant Restrictive Food Intake Disorder	Inhibit	36592795
Bardet Biedl Syndrome	Associate	35562395, 36356613, 36961653, 40484968
Binge Eating Disorder	Associate	21710454
Body Weight	Associate	21347432, 36009013
Breast Neoplasms	Associate	21688152, 26865587
Bulimia	Associate	12646666
Carbohydrate Metabolism Inborn Errors	Associate	35292917
Cardio Renal Syndrome	Associate	29182660, 32019489
Cardiovascular Diseases	Associate	32807123, 33284034, 36050672
Colorectal Neoplasms	Associate	28537674
Congenital Hyperinsulinism	Associate	18835933
Coronary Artery Disease	Inhibit	31002796
Coronary Artery Disease	Associate	34672391
Depressive Disorder	Associate	24827639, 36123585, 37072742, 37311812
Diabetes Gestational	Associate	31271198, 39458497
Diabetes Gestational	Stimulate	32390949
Diabetes Mellitus	Associate	21976721, 23512951, 23849767, 32807123, 36585034, 37070693
Diabetes Mellitus Type 2	Associate	19680233, 20161779, 21976721, 22106157, 22421923, 23130628, 23849767, 25093408, 26308479, 26680479, 31167208, 31947684, 32952152, 33205056, 33542413 View all (6 more)
Diabetes Mellitus Type 2	Inhibit	31002796
Diabetic Nephropathies	Associate	32952152
Endometrial Neoplasms	Associate	21347432, 21976109
Erythema	Associate	36356613
Feeding and Eating Disorders	Associate	18559663, 24066140, 24827639, 28520814
Food Addiction	Associate	27706562
Fractures Bone	Associate	24516669
Genetic Diseases Inborn	Associate	36356613
Glioblastoma	Associate	28150230
Glioma	Associate	28150230
Growth Disorders	Associate	30134862
Heart Diseases	Associate	34036349
Hirschsprung disease type d brachydactyly	Associate	35095762
Hirsutism	Associate	31429705
Hyperandrogenism	Associate	15533382
Hyperinsulinism	Associate	10903343, 12646665, 19092146
Hyperphagia	Associate	10903343, 12646665, 25062455, 32185475, 34036349, 35809703, 36356613, 36864747, 36961653, 37393902, 38239988
Hypertension	Associate	19092146, 23849767, 26324055, 27701175, 32733386, 36323255
Hypogonadism	Associate	21921657
Hypothalamic Diseases	Associate	21921657
Infarction Anterior Cerebral Artery	Associate	27701175
Inflammation	Associate	31636637, 37716291
Insulin Resistance	Associate	19680233, 21976721, 23101478, 26680479, 28218067, 31271198, 33468396
Intestinal Pseudo Obstruction	Associate	20070976
Intestinal Pseudo Obstruction	Inhibit	30945034
Ischemic Attack Transient	Associate	21921652
Kidney Failure Chronic	Associate	32952152
Lipid Metabolism Disorders	Associate	32955223
MASS syndrome	Associate	15805150
Metabolic Diseases	Associate	31305461, 32733386, 32955223, 36050672
Metabolic Syndrome	Associate	18239646, 19629057, 22566560, 23101478, 23890480, 26965781, 28356726, 29315078, 29598821, 31002796, 31305461, 31502573, 34205732, 36440355
Multiple Sclerosis	Stimulate	31636637
Neoplasms	Associate	18377640, 34787056
Neoplasms	Stimulate	33299884
Neoplasms Adipose Tissue	Associate	18835933, 19016587, 19889825, 21544599, 27215616, 28852042, 32733386, 33284034
Neoplastic Syndromes Hereditary	Associate	20631012
Neurodegenerative Diseases	Associate	31636637
Obesity	Associate	10577903, 10903341, 10903343, 12629567, 12646665, 12646666, 14504270, 15115780, 15805150, 15951321, 17030971, 18239646, 18377640, 18454148, 18559663 View all (197 more)
Obesity Abdominal	Associate	23424664, 23890480, 28356726, 31035493, 31502573
Obesity Morbid	Associate	10903341, 10903343, 23251400, 24426828, 28377240, 30068297, 33205056, 33621651, 38003551
Orbital Diseases	Associate	32363922
Overweight	Associate	16459314, 18997677, 19092146, 21347432, 26308479, 27486100, 28081251, 28148682, 28520814, 29679223, 29991773, 30068297, 31350533, 32069471, 32921795 View all (4 more)
Polycystic Ovary Syndrome	Associate	21283731, 26680479, 31429705
Prader Willi Syndrome	Associate	35442499
Pressure Ulcer	Associate	26324055
Prostatic Neoplasms	Associate	34787056
Psoriasis	Associate	29696068
Seizures	Associate	23778139
Sleep Apnea Obstructive	Associate	24426828
Smoke Inhalation Injury	Associate	26537541
Spondylodysplasia And Premature Pubarche	Associate	15533382
Stroke	Associate	21921652
Thyroid Diseases	Associate	37311812
Thyroid Hormone Metabolism Abnormal	Associate	27920511
Tremor	Associate	18835933
Weight Gain	Associate	15292469, 22566560, 24827639, 29598821, 31350533, 33767348, 35574020, 36757449
Weight Loss	Associate	18997677, 20957447, 21976721, 23512951, 23740648, 24705671, 28148682, 31002796, 32185475, 33801339, 35292917, 36553534
X Linked Combined Immunodeficiency Diseases	Associate	16459314
X Linked Combined Immunodeficiency Diseases	Inhibit	22106157

MC4R (melanocortin 4 receptor)