MC3R - melanocortin 3 receptor Gene

Also Known as MC3; OB20; OQTL; BMIQ9; MC3-R

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4159

About MC3R

Cytogenetic location: 20q13.2 Genomic coordinates (GRCh38): 20:56,248,732-56,249,815 (from NCBI)

This gene has 1 transcript (splice variant), 141 orthologues, 18 paralogues and is associated with 2 phenotypes.

Summary

This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues Other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]

MC3R Products (1)

mRNA	Protein	Name
NM_019888.3	NP_063941.3	melanocortin receptor 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
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

Biological Process GO Annotation	Evidence	References	Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	19329486	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

MC3R Protein Structure

7tm_1

0
100
200
300
323 a.a.

Protein Preferred Names	Protein Names
melanocortin receptor 3	obesity quantitative trait locus

Related Diseases

Diseases	Alias
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Uterine Carcinosarcoma	Carcinosarcoma Of The Corpus Uteri Mixed Mullerian Sarcoma Of Uterus Malignant Mixed Müllerian Tumor Of The Corpus Uteri Malignant Mixed Müllerian Tumor Of Corpus Uteri Mixed Müllerian Cancer Of Corpus Uteri Malignant Mixed Mullerian Tumor Of The Corpus Uteri Mixed Mullerian Cancer Of Corpus Uteri Uterine Corpus Carcinosarcoma
Tricuspid Valve Disease	Rheumatic Tricuspid Valve Disease Disease Of Tricuspid Valve Rh. Tricuspid Valve Disease Rheumatic Disease Of Tricuspid Valve Tricuspid Disease Tricuspid Valve Disorder
Hyperinsulinism	Hyperinsulinemia
Tricuspid Valve Insufficiency	Tricuspid Regurgitation Tricuspid Valve Regurgitation Tricuspid Incompetence Tr - [Tricuspid Regurgitation] Tricuspid Valve Incompetency Tricuspid Valve Annular Incompetency
Body Mass Index Quantitative Trait Locus 9	Obesity BMIQ9 Obesity, Susceptibility To Obesity, Severe, Susceptibility To, Bmiq9 Obesity, Severe Bmiq9
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
Anorexia Nervosa	Anorexia Nervosa, Susceptibility To ANON Anorexia Nervosa, Susceptibility To, 1 An Anorexia Nervosa 1 An - [Anorexia Nervosa]
Uterine Body Mixed Cancer	Malignant Mixed Tumor Of Corpus Uteri Malignant Mixed Tumor, Not Otherwise Specified
Diabetes Mellitus	Diabetes
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
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
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
Combat Disorder	Combat Disorders Combat Neurosis
Hypoactive Sexual Desire Disorder	Lack Or Loss Of Sexual Desire Sexual Dysfunctions, Psychological

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
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-18678A	Bremelanotide Acetate	Agonist	99.97%	Unkown
HY-18678	Bremelanotide	Agonist	99.69%	Unkown

Pre-clinical Phase

Bioactive Molecules (18)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0267	Melanotan (MT)-II	Agonist	99.97%	Unkown
HY-P0227	SHU 9119		99.83%	Unkown
HY-P0097A	Nonapeptide-1 acetate salt	Antagonist	95.58%	Unkown
HY-P0097	Nonapeptide-1	Antagonist	98.74%	Unkown
HY-147301	Resomelagon	Agonist	98.79%	Unkown
HY-P1531	γ-1-Melanocyte Stimulating Hormone (MSH), amide	Agonist	97.03%	Unkown
HY-P1214	γ1-MSH	Agonist	99.60%	Unkown
HY-P1217	[D-Trp8]-γ-MSH	Agonist	98.25%	Unkown
HY-19870C	Setmelanotide monoacetate	Agonist	99.81%	Unkown
HY-P1209A	PG106 TFA	Antagonist	98.42%	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-168383	(E/Z)-Resomelagon acetate	Agonist	/	Unkown
HY-P1214A	γ1-MSH TFA	Agonist	/	Unkown
HY-P0267A	Melanotan (MT)-II acetate	Agonist	/	Unkown
HY-111131	RY764	Agonist	/	Unkown
HY-P0252B	α-MSH free acid	Agonist	/	Unkown
HY-P1217A	[D-Trp8]-γ-MSH TFA	Agonist	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MC3R	MGD	MGI:96929
Bos taurus	MC3R	VGNC	VGNC:31294
Canis familiaris	MC3R	VGNC	VGNC:110518
Felis catus	MC3R	VGNC	VGNC:68204
Rattus norvegicus	MC3R	RGD	RGD:3056
Macaca mulatta	MC3R	VGNC	VGNC:107799
Others	MC3R	NCBI