Details for: MC4R

Gene ID: 4160

Symbol: MC4R

Ensembl ID: ENSG00000166603

Description: melanocortin 4 receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0632
    Cell Significance Index: 1.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0144
    Cell Significance Index: 5.1600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0011
    Cell Significance Index: 0.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0013
    Cell Significance Index: -0.2300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0055
    Cell Significance Index: -4.0600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0061
    Cell Significance Index: -4.6400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0119
    Cell Significance Index: -2.3900
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0136
    Cell Significance Index: -0.2100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0155
    Cell Significance Index: -4.4600
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.0252
    Cell Significance Index: -0.2900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0543
    Cell Significance Index: -24.6400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0556
    Cell Significance Index: -7.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0602
    Cell Significance Index: -4.0500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0649
    Cell Significance Index: -0.5000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0716
    Cell Significance Index: -4.4000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0741
    Cell Significance Index: -3.8900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0804
    Cell Significance Index: -2.5600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0822
    Cell Significance Index: -1.7200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0824
    Cell Significance Index: -1.1800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0861
    Cell Significance Index: -4.8300
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0904
    Cell Significance Index: -1.1000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0931
    Cell Significance Index: -4.1200
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.1101
    Cell Significance Index: -1.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1112
    Cell Significance Index: -3.6400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1159
    Cell Significance Index: -4.0600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1171
    Cell Significance Index: -4.0700
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1227
    Cell Significance Index: -1.1900
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1243
    Cell Significance Index: -1.6900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1249
    Cell Significance Index: -3.2900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1266
    Cell Significance Index: -2.0900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1279
    Cell Significance Index: -3.1900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1290
    Cell Significance Index: -3.6800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1310
    Cell Significance Index: -4.8100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1334
    Cell Significance Index: -1.4500
  • Cell Name: pulmonary alveolar type 1 cell (CL0002062)
    Fold Change: -0.1357
    Cell Significance Index: -1.4900
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1382
    Cell Significance Index: -1.6800
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.1433
    Cell Significance Index: -1.5600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1512
    Cell Significance Index: -2.9800
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.1516
    Cell Significance Index: -1.4900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1545
    Cell Significance Index: -4.5500
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: -0.1561
    Cell Significance Index: -1.5300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1571
    Cell Significance Index: -4.2100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1577
    Cell Significance Index: -3.9400
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.1581
    Cell Significance Index: -1.7900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1624
    Cell Significance Index: -4.1500
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.1678
    Cell Significance Index: -2.0000
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.1704
    Cell Significance Index: -1.6300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1709
    Cell Significance Index: -4.1400
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1794
    Cell Significance Index: -4.5700
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: -0.1817
    Cell Significance Index: -1.9700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1850
    Cell Significance Index: -9.6100
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.1854
    Cell Significance Index: -2.1000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1861
    Cell Significance Index: -4.0200
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.1867
    Cell Significance Index: -1.8000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1972
    Cell Significance Index: -3.9000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2059
    Cell Significance Index: -4.3700
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2061
    Cell Significance Index: -4.0300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2063
    Cell Significance Index: -4.3100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2081
    Cell Significance Index: -4.9900
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2114
    Cell Significance Index: -3.5900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2127
    Cell Significance Index: -4.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2175
    Cell Significance Index: -10.1400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2201
    Cell Significance Index: -4.8200
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: -0.2228
    Cell Significance Index: -1.7700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2233
    Cell Significance Index: -6.4000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.2297
    Cell Significance Index: -4.5800
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: -0.2317
    Cell Significance Index: -1.8800
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.2320
    Cell Significance Index: -2.6600
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.2448
    Cell Significance Index: -3.5800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2464
    Cell Significance Index: -4.2600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2516
    Cell Significance Index: -5.2200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2617
    Cell Significance Index: -4.3800
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.2678
    Cell Significance Index: -1.6700
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.2710
    Cell Significance Index: -1.6600
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.2753
    Cell Significance Index: -3.5700
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.2789
    Cell Significance Index: -3.5200
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.2811
    Cell Significance Index: -1.6500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2818
    Cell Significance Index: -4.1600
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.2839
    Cell Significance Index: -3.5600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.2870
    Cell Significance Index: -3.6800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.2873
    Cell Significance Index: -4.0300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2888
    Cell Significance Index: -4.8700
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.2896
    Cell Significance Index: -3.8600
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.2903
    Cell Significance Index: -4.0600
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.2936
    Cell Significance Index: -3.7100
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.2949
    Cell Significance Index: -3.7000
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.2957
    Cell Significance Index: -3.9900
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2974
    Cell Significance Index: -3.2400
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.3029
    Cell Significance Index: -4.0300
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: -0.3041
    Cell Significance Index: -3.3500
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.3095
    Cell Significance Index: -4.6300
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: -0.3100
    Cell Significance Index: -3.6800
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: -0.3181
    Cell Significance Index: -3.4300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.3253
    Cell Significance Index: -5.5600
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.3360
    Cell Significance Index: -3.9700
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.3384
    Cell Significance Index: -4.1600
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.3397
    Cell Significance Index: -4.1400
  • Cell Name: interneuron (CL0000099)
    Fold Change: -0.3446
    Cell Significance Index: -4.0300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.3448
    Cell Significance Index: -4.6000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3475
    Cell Significance Index: -4.3100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Structure and Function:** MC4R is a transmembrane GPCR that belongs to the class 1 (rhodopsin-like) receptors. It is activated by MSH, a 13-amino acid peptide hormone that binds to the receptor's extracellular N-terminus. 2. **Signaling Pathways:** The activation of MC4R triggers the activation of adenylate cyclase, leading to the production of cyclic AMP (cAMP). cAMP then activates protein kinase A (PKA), which phosphorylates and activates various downstream targets, including transcription factors and ion channels. 3. **Expression and Localization:** MC4R is widely expressed in various tissues, including the hypothalamus, brainstem, and peripheral tissues such as adipose tissue, liver, and pancreas. It is also expressed in immune cells, including monocytes, dendritic cells, and mast cells. 4. **Regulation of Feeding Behavior:** MC4R plays a crucial role in regulating feeding behavior, with activation of the receptor leading to the suppression of appetite and the reduction of food intake. **Pathways and Functions:** 1. **Energy Homeostasis:** MC4R regulates energy homeostasis by modulating the expression of genes involved in glucose and lipid metabolism. Activation of the receptor leads to the suppression of glucose and lipid synthesis, while the inhibition of glucose and lipid oxidation. 2. **Metabolic Processes:** MC4R regulates various metabolic processes, including gluconeogenesis, glycogen synthesis, and lipogenesis. Activation of the receptor leads to the suppression of gluconeogenesis and glycogen synthesis, while the inhibition of lipogenesis. 3. **Insulin Secretion:** MC4R regulates insulin secretion by modulating the expression of genes involved in insulin signaling. Activation of the receptor leads to the suppression of insulin secretion. 4. **Negative Regulation of Feeding Behavior:** MC4R regulates feeding behavior by modulating the expression of genes involved in appetite signaling. Activation of the receptor leads to the suppression of appetite and the reduction of food intake. **Clinical Significance:** 1. **Obesity:** MC4R has been implicated in the regulation of energy homeostasis and feeding behavior, making it a potential target for the treatment of obesity. 2. **Diabetes:** MC4R regulates insulin secretion and glucose metabolism, making it a potential target for the treatment of type 2 diabetes. 3. **Metabolic Syndrome:** MC4R regulates various metabolic processes, including glucose and lipid metabolism, making it a potential target for the treatment of metabolic syndrome. 4. **Cancer:** MC4R has been implicated in the regulation of energy homeostasis and feeding behavior in cancer, making it a potential target for the treatment of cancer cachexia. In conclusion, the melanocortin 4 receptor is a key regulator of energy homeostasis and metabolic processes. Its dysregulation has been implicated in several metabolic disorders, including obesity and diabetes. Further research is needed to fully understand the role of MC4R in regulating energy homeostasis and metabolic processes, and to develop effective therapeutic strategies for the treatment of these disorders.

Genular Protein ID: 1686850770

Symbol: MC4R_HUMAN

Name: Melanocortin receptor 4

UniProtKB Accession Codes:

P32245 B2RAC3 Q16317 Q3MIJ6

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EMBL 8 EMDB 7 Ensembl 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 8 PIR 1 PRINTS 4 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 3 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8392067

Title: Molecular cloning, expression, and gene localization of a fourth melanocortin receptor.

PubMed ID: 8392067

DOI: 10.1016/s0021-9258(18)82452-8

PubMed ID: 7854347

Title: Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain.

PubMed ID: 7854347

DOI: 10.1210/mend.8.10.7854347

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19329486

Title: MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.

PubMed ID: 19329486

DOI: 10.1073/pnas.0809918106

PubMed ID: 19737927

Title: Mahogunin ring finger-1 (MGRN1) E3 ubiquitin ligase inhibits signaling from melanocortin receptor by competition with Galphas.

PubMed ID: 19737927

DOI: 10.1074/jbc.m109.028100

PubMed ID: 23088915

Title: The melanocortin 4 receptor: oligomer formation, interaction sites and functional significance.

PubMed ID: 23088915

DOI: 10.1016/j.bbamem.2012.10.011

PubMed ID: 10199800

Title: Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.

PubMed ID: 10199800

DOI: 10.1210/jcem.84.4.5728

PubMed ID: 11443223

Title: A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity.

PubMed ID: 11443223

DOI: 10.1210/jcem.86.7.7809

PubMed ID: 11487744

Title: Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.

PubMed ID: 11487744

DOI: 10.1067/mpd.2001.116284

PubMed ID: 12588803

Title: Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

PubMed ID: 12588803

DOI: 10.1093/hmg/ddg057

PubMed ID: 14671178

Title: Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female.

PubMed ID: 14671178

DOI: 10.1210/jc.2003-030903

PubMed ID: 12646665

Title: Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

PubMed ID: 12646665

DOI: 10.1056/nejmoa022050

PubMed ID: 14764818

Title: Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese Finnish children and adults.

PubMed ID: 14764818

DOI: 10.1210/jc.2003-031182

PubMed ID: 15486053

Title: Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.

PubMed ID: 15486053

DOI: 10.1210/jc.2004-0497

PubMed ID: 25163632

Title: Functional characterization of a new human melanocortin-4 receptor homozygous mutation (N72K) that is associated with early-onset obesity.

PubMed ID: 25163632

DOI: 10.1007/s11033-014-3691-7

PubMed ID: 31002796

Title: Human gain-of-function MC4R variants show signaling bias and protect against obesity.

PubMed ID: 31002796

DOI: 10.1016/j.cell.2019.03.044

Sequence Information:

  • Length: 332
  • Mass: 36943
  • Checksum: E80010BAADBED2B4
  • Sequence:
    • MVNSTHRGMH TSLHLWNRSS YRLHSNASES LGKGYSDGGC YEQLFVSPEV FVTLGVISLL 
ENILVIVAIA KNKNLHSPMY FFICSLAVAD MLVSVSNGSE TIVITLLNST DTDAQSFTVN 
IDNVIDSVIC SSLLASICSL LSIAVDRYFT IFYALQYHNI MTVKRVGIII SCIWAACTVS 
GILFIIYSDS SAVIICLITM FFTMLALMAS LYVHMFLMAR LHIKRIAVLP GTGAIRQGAN 
MKGAITLTIL IGVFVVCWAP FFLHLIFYIS CPQNPYCVCF MSHFNLYLIL IMCNSIIDPL 
IYALRSQELR KTFKEIICCY PLGGLCDLSS RY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.