1. Gene
  2. MC4R - melanocortin 4 receptor Gene

MC4R - melanocortin 4 receptor Gene

中文名称:黑皮质素 4 受体

种属: Homo sapiens

同用名: BMIQ20

基因 ID: 4160 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种膜结合受体,是黑皮质素受体家族的成员。编码的蛋白质与促肾上腺皮质激素和 MSH 激素相互作用,并由 G 蛋白介导。这是一个无内含子的基因。该基因的缺陷是常染色体显性肥胖的原因。[RefSeq 提供,2010 年 1 月]

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 基因产物(1)

mRNA Protein Name
NM_005912.3 NP_005903.2 melanocortin receptor 4
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables melanocyte-stimulating hormone receptor activity IDA
IDA: 通过直接分析推断
14764818 GOA
enables melanocyte-stimulating hormone receptor activity IPI
IPI: 通过物理相互作用推断
19743876 GOA
enables neuropeptide binding IMP
IMP: 通过突变表型推断
15927146 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19329486 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
19737927 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
19329486 GOA
involved in positive regulation of bone resorption IMP
IMP: 通过突变表型推断
16614075 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MC4R 蛋白结构

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (61 - 302)

  • 0
  • 100
  • 200
  • 300
  • 332 a.a.
蛋白主名 其他名称

melanocortin receptor 4

MC4-R

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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