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Gene

MC4R

melanocortin 4 receptor

Summary

Cytogenetic location
18q21.32
Coordinates
Chromosome 18: 60,371,062–60,372,775 (GRCh38)
Exons
1 exon across 1.7 kb
Protein
332 amino acids
MANE Select transcript
ENST00000299766.5NM_005912.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Monogenic Obesity (Leptin-Melanocortin Pathway)

    • Inherited obesity (leptin-melanocortin pathway)

      Early-onset severe obesity caused by single-gene defects in appetite regulation, including MC4R, SIM1 (dominant), and LEP, LEPR, POMC and PCSK1 (recessive) deficiencies.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Targeted medicines are available for some forms: metreleptin for leptin deficiency, and setmelanotide for POMC, PCSK1 and LEPR deficiency.

How MC4R is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 18, with a bracket where MC4R sits. MC4R and 1 gene near it on chromosome 18, from 59,871,919 to 60,871,918.Chromosome 1818q21.32p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2360 Mb60.2 Mb60.4 Mb60.6 Mb60.8 MbPMAIP1: 59,899,644–59,904,305, forward strandPMAIP1MC4R: 60,371,062–60,372,775, reverse strandMC4RDiagram of MC4R: one exon on the reverse strand of chromosome 18Exon 1: 24 known disease-causing sitesExon 1: 60,371,062–60,372,775, 1,714 bases15′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.7 kb of the gene's 1.7 kb; 999 of those bases code for the protein.

How a genome test reads MC4R

24

positions in MC4R where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 1.7 kb of MC4R, introns included, not only the 1.7 kb of exons.

Genes linked to the same conditions

Traits linked to MC4R

The Human Phenotype Ontology lists these as features of the rare conditions MC4R can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MC4R gene: melanocortin 4 receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/mc4r

Vancouver

Dante Labs. MC4R gene: melanocortin 4 receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mc4r

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