The MC4R gene homepage

General information
Gene symbol MC4R
Gene name melanocortin 4 receptor
Chromosome 18
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_016441.1
Transcript reference NM_005912.2
Exon/intron information NM_005912.2 exon/intron table
Associated with diseases BMIQ20, obesity, PRR7
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1037
Unique public DNA variants reported 226
Individuals with public variants 1331
Hidden variants 11
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated April 19, 2024
Version MC4R:240419

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005912.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/MC4R
HGNC 6932
Entrez Gene 4160
PubMed articles MC4R
OMIM - Gene 155541
OMIM - Diseases BMIQ20 (Obesity (BMIQ20))
obesity (obesity, susceptibility to (incl. leanness))
PRR7 ({Obesity, resistence to (BMIQ20)})
HGMD MC4R
GeneCards MC4R
GeneTests MC4R
Orphanet MC4R


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011887 18 melanocortin 4 receptor NM_005912.2 NP_005903.2 1037


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