MC4R (melanocortin 4 receptor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4160
Gene name Gene Name - the full gene name approved by the HGNC.
Melanocortin 4 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MC4R
Synonyms (NCBI Gene) Gene synonyms aliases
BMIQ20
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 thi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
SNP ID Visualize variation Clinical significance Consequence
rs13447324 G>T Pathogenic, uncertain-significance Stop gained, coding sequence variant
rs13447325 T>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs13447331 G>A Conflicting-interpretations-of-pathogenicity, pathogenic Coding sequence variant, missense variant
rs13447339 TC>- Pathogenic Coding sequence variant, frameshift variant
rs52804924 G>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT037223 hsa-miR-877-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004977 Function Melanocortin receptor activity IEA
GO:0004977 Function Melanocortin receptor activity TAS 8794897
GO:0004980 Function Melanocyte-stimulating hormone receptor activity IBA
GO:0004980 Function Melanocyte-stimulating hormone receptor activity IDA 14764818
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
155541 6932 ENSG00000166603
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P32245
Protein name Melanocortin receptor 4 (MC4-R)
Protein function Hormone receptor that acts as a key component of the leptin-melanocortin pathway at the intersection of homeostatic maintenance of energetic state (PubMed:32327598, PubMed:33858992). Plays a role in regulating food intake: activation by a stimul
PDB 6W25 , 7AUE , 7F53 , 7F54 , 7F55 , 7F58 , 7PIU , 7PIV , 8QJ2 , 8WKY , 8WKZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 61 → 302 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Brain, placental, and gut tissues.
Sequence
Sequence length 332
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling 		  Peptide ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Monogenic Diabetes monogenic diabetes rs369841551 N/A
Obesity Obesity, autosomal dominant, obesity rs751160202, rs747681609, rs13447339, rs370479598, rs13447324, rs756232889, rs121913562, rs369841551, rs121913564, rs193922685, rs193922687 N/A
Schizophrenia schizophrenia rs13447324 N/A
Show/Hide Unknown Diseases (12)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anxiety Disorder Anxiety N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Show/Hide Text Mining Associations (85)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 31167208
Alopecia Associate 31429705
Alstrom Syndrome Associate 36356613
Anorexia Stimulate 36323255
Anxiety Associate 36123585
Apraxias Associate 36356613
Arthritis Rheumatoid Associate 18839399, 28426141
Attention Deficit Disorder with Hyperactivity Associate 23493066
Avoidant Restrictive Food Intake Disorder Inhibit 36592795
Bardet Biedl Syndrome Associate 35562395, 36356613, 36961653, 40484968