MC4R - melanocortin 4 receptor Gene

Homo sapiens

Also known as BMIQ20

Gene ID: 4160 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-18678A	Bremelanotide Acetate	Agonist	99.98%	Unkown

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P0252	α-MSH	Agonist	99.57%	Phase 2
HY-118930	MK-0493	Agonist	99.43%	Phase 2
HY-10622	PF-00446687 free base	Agonist	98.02%	Phase 2

Pre-clinical Phase

Bioactive Molecules (18)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0227	SHU 9119		99.95%	Unkown
HY-10624	THIQ	Agonist	98.11%	Unkown
HY-P0097A	Nonapeptide-1 acetate salt	Antagonist	98.70%	Unkown
HY-P0252A	α-MSH TFA	Agonist	98.79%	Unkown
HY-P1215A	HS024 TFA	Antagonist	99.80%	Unkown
HY-P1504A	β-Melanocyte Stimulating Hormone (MSH), human TFA	Agonist	99.21%	Unkown
HY-110123	ML-00253764 hydrochloride	Inhibitor	99.47%	Unkown
HY-P2242A	RO27-3225 TFA	Agonist	99.21%	Unkown
HY-P1478	Adrenocorticotropic Hormone (ACTH) (4-10), human	Agonist	99.23%	Unkown
HY-P1504	β-Melanocyte Stimulating Hormone (MSH), human	Agonist	98.91%	Unkown
HY-P1213	JKC363	Antagonist	99.55%	Unkown
HY-P0097	Nonapeptide-1	Antagonist	99.04%	Unkown
HY-P1216A	HS014 TFA	Antagonist	99.87%	Unkown
HY-P1216	HS014	Antagonist	/	Unkown
HY-169731	RO27-3225 trifluoroacetate	Agonist	/	Unkown
HY-P1213A	JKC363 TFA	Antagonist	/	Unkown
HY-P0252B	α-MSH free acid	Agonist	/	Unkown
HY-P3561	Agouti-related Protein (AGRP) (83-132) Amide (human)	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

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