MC4R - melanocortin 4 receptor Gene

Also Known as BMIQ20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4160

About MC4R

Cytogenetic location: 18q21.32 Genomic coordinates (GRCh38): 18:60,371,062-60,372,775 (from NCBI)

This gene has 1 transcript (splice variant), 231 orthologues, 18 paralogues and is associated with 2 phenotypes.

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 this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]

MC4R Products (1)

mRNA	Protein	Name
NM_005912.3	NP_005903.2	melanocortin receptor 4

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables melanocyte-stimulating hormone receptor activity	IDA IDA: Inferred from direct assay	14764818	GOA
enables melanocyte-stimulating hormone receptor activity	IPI IPI: Inferred from physical interaction	19743876	GOA
enables neuropeptide binding	IMP IMP: Inferred from mutant phenotype	15927146	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19329486	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	19737927	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	19329486	GOA
involved in positive regulation of bone resorption	IMP IMP: Inferred from mutant phenotype	16614075	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MC4R Protein Structure

7tm_1

0
100
200
300
332 a.a.

Protein Preferred Names	Protein Names
melanocortin receptor 4	MC4-R

MC4R Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810898	MC4 Receptor Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P81900	MC4R Antibody (YA1645)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Familial Glucocorticoid Deficiency	Glucocorticoid Deficiency Acth Resistance Adrenal Unresponsiveness To Acth Hereditary Unresponsiveness To Adrenocorticotropic Hormone Isolated Glucocorticoid Deficiency Glucocorticoid Deficiency, Familial Glucocorticoid Deficiency 1
Epilepsy, Idiopathic Generalized 4	EIG4 Epilepsy, Idiopathic Generalized, Susceptibility To 4 Idiopathic Generalized Epilepsy 4 Epilepsy, Idiopathic Generalized, Susceptibility To, 4 Epilepsy, Idiopathic Generalized Locus On Chromosome 10 Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 10
Blount'S Disease	Blount Disease Tibia Vara Osteochondrosis Deformans Tibiae Osteochondrosis Deformans Tibiae, Familial Infantile Type Familial Infantile Type Osteochondrosis Deformans Tibiae Blount-Barber Syndrome Erlacher-Blount Syndrome Infantile Tibia Vara Tibia Vara Blount Blount Disease, Infantile
Psoriasis 8	PSORS8 Psoriasis Susceptibility 8 Psoriasis 8, Susceptibility To
Anorexia Nervosa	Anorexia Nervosa, Susceptibility To ANON Anorexia Nervosa, Susceptibility To, 1 An Anorexia Nervosa 1 An - [Anorexia Nervosa]
Pseudohypoparathyroidism	Familial Pseudohypoparathyroidism Parathyroid Hormone Resistant Hypoparathyroidism Php - [Pseudohypoparathyroidism] Constitutional Chronic Hypocalcaemia
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Obesity Due To Melanocortin 4 Receptor Deficiency	Mc4r Deficiency
Overnutrition
Acquired Metabolic Disease
Body Mass Index Quantitative Trait Locus 20	Obesity, Resistance To BMIQ20 Obesity Melanocortin 4 Receptor Deficiency Mc4r Deficiency
Sleep Apnea	Sleep Apnea Syndromes
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Obesity , Susceptibility To Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Pseudohypoparathyroidism, Type Ia	Albright'S Hereditary Osteodystrophy Albright Hereditary Osteodystrophy Pseudohypoparathyroidism Type 1a PHP1A Albright Hereditary Osteodystrophy With Multiple Hormone Resistance Pseudohypoparathyroidism Ia AHO Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy Pseudo-Pseudohypoparathyroidism Pseudohypoparathyroidism Type I A Php Ia Pseudopseudohypoparathyroidism Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance Pphp Pseudopseudo-Hypoparathyroidism Aho-Php Syndrome Ia Albright Hereditary Osteodystrophy-Php Syndrome Ia Pseudohypoparathyroidism 1a Pseudohypoparathyroidism
Eating Disorder	Eating Disorders Feeding And Eating Disorders
Leptin Deficiency Or Dysfunction	Morbid Obesity Obesity Due To Congenital Leptin Deficiency LEPD Congenital Leptin Deficiency Obesity, Morbid Obesity, Morbid, Due To Leptin Deficiency Severe Obesity Obesity, Morbid, Nonsyndromic 1 Leptin Deficiency Obesity, Severe, Due To Leptin Deficiency Morbid Obesity Due To Leptin Deficiency Obesity Morbid Leptin Dysfunction Leptin
Hyperandrogenism	Hyperandrogenization Syndrome
Hypoactive Sexual Desire Disorder	Lack Or Loss Of Sexual Desire Sexual Dysfunctions, Psychological
Bulimia Nervosa	Bulimia Bulimia Nervosa, Susceptibility To Binge Eating Disorder BULN Bn Hyperorexia Nervosa Bulimia Nervosa 2 BULN2 Susceptibility To Bulimia Nervosa Bulimia Nervosa, Susceptibility To, Type 2 Bn - [Bulimia Nervosa] Bulimia Nos Bulimic Bingeing Binge Overeating Bouts Of Overeating Episodes Of Overeating
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Prader-Willi Syndrome Due To Imprinting Mutation Upd(15)Mat
Diabetes Mellitus	Diabetes
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Diabetes Mellitus, Non-Insulin-Dependent Type 2 Diabetes T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Hyperinsulinism	Hyperinsulinemia
Monogenic Diabetes
Prediabetes Syndrome	Impaired Glucose Tolerance Prediabetes Prediabetic State IGT Igt - [Impaired Glucose Tolerance] Impaired Glucose Tolerance With Unspecified Complication Impaired Glucose Tolerance Without Complication Abnormal Glucose Tolerance

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-19870	Setmelanotide	Agonist	99.99%	Yes
HY-18678A	Bremelanotide Acetate	Agonist	99.97%	Unkown
HY-18678	Bremelanotide	Agonist	99.94%	Unkown
HY-P0060	Tetracosactide	Agonist	99.46%	Unkown
HY-P0060A	Tetracosactide acetate	Agonist	99.35%	Unkown
HY-19870A	Setmelanotide TFA	Agonist	/	Unkown

Clinical Phase

Bioactive Molecules (5)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-P0252	α-MSH	Agonist	99.98%	Phase 2
HY-153660	Bivamelagon	Agonist	99.50%	Phase 2
HY-10622	PF-00446687 free base	Agonist	98.02%	Phase 2
HY-118930	MK-0493	Agonist	99.43%	Phase 2
HY-148349	PF-07258669	Antagonist	98.46%	Phase 1

Pre-clinical Phase

Bioactive Molecules (36)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-P0267	Melanotan (MT)-II	Agonist	99.97%	Unkown
HY-10624	THIQ	Agonist	98.48%	Unkown
HY-P0227	SHU 9119		99.83%	Unkown
HY-P0097A	Nonapeptide-1 acetate salt	Antagonist	95.58%	Unkown
HY-P0252A	α-MSH TFA	Agonist	98.97%	Unkown
HY-P1215A	HS024 TFA	Antagonist	99.80%	Unkown
HY-11030A	SNT-207858 free base	Antagonist	99.66%	Unkown
HY-P2242A	RO27-3225 TFA	Agonist	98.65%	Unkown
HY-110123	ML-00253764 hydrochloride	Inhibitor	99.29%	Unkown
HY-P1504	β-Melanocyte Stimulating Hormone (MSH), human	Agonist	99.80%	Unkown
HY-P0097	Nonapeptide-1	Antagonist	98.74%	Unkown
HY-11029	SNT-207707	Inhibitor	99.54%	Unkown
HY-P1504A	β-Melanocyte Stimulating Hormone (MSH), human TFA	Agonist	98.16%	Unkown
HY-P1478	Adrenocorticotropic Hormone (ACTH) (4-10), human	Agonist	99.18%	Unkown
HY-19870C	Setmelanotide monoacetate	Agonist	99.81%	Unkown
HY-P1213	JKC363	Antagonist	99.06%	Unkown
HY-P1208	PG-931	Agonist	99.60%	Unkown
HY-P4665	Ac-c[Cys-Glu-His-d-Phe-Arg-Trp-d-Cys]-Pro-Pro-Lys-Asp-NH2	Antagonist	98.14%	Unkown
HY-P11469	PG-901	Modulator	99.35%	Unkown
HY-P1216A	HS014 TFA	Antagonist	98.84%	Unkown
HY-P1215	HS024	Antagonist	/	Unkown
HY-P3561	Agouti-related Protein (AGRP) (83-132) Amide (human)	Antagonist	/	Unkown
HY-153660A	Bivamelagon hydrochloride	Agonist	/	Unkown
HY-P10985	CTX-1211	Agonist	/	Unkown
HY-P1216	HS014	Antagonist	/	Unkown
HY-10623	PF-00446687 hydrochloride	Agonist	/	Unkown
HY-P1213A	JKC363 TFA	Antagonist	/	Unkown
HY-P0252B	α-MSH free acid	Agonist	/	Unkown
HY-W559510	MC4R antagonist-3	Antagonist	/	Unkown
HY-P1208A	PG-931 TFA	Agonist	/	Unkown
HY-111131	RY764	Agonist	/	Unkown
HY-183106	MC4R antagonist-2	Antagonist	/	Unkown
HY-11073	MK-0489	Agonist	/	Unkown
HY-P0267A	Melanotan (MT)-II acetate	Agonist	/	Unkown
HY-125055A	CD08108	Agonist	/	Unkown
HY-182773	MC4R Antagonist-1	Antagonist	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MC4R	VGNC	VGNC:68205
Mus musculus	MC4R	MGD	MGI:99457
Canis familiaris	MC4R	VGNC	VGNC:43067
Bos taurus	MC4R	VGNC	VGNC:31295
Macaca mulatta	MC4R	VGNC	VGNC:74674
Rattus norvegicus	MC4R	RGD	RGD:3057
Others	MC4R	NCBI