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Gene

POMC

proopiomelanocortin

Summary

Cytogenetic location
2p23.3
Coordinates
Chromosome 2: 25,160,860–25,168,580 (GRCh38)
Exons
3 exons across 7.7 kb
Protein
267 amino acids
Also known as
MSH, POC, CLIP, ACTH, NPP, LPH
MANE Select transcript
ENST00000395826.7NM_000939.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

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.

      • 4 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 POMC is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where POMC sits. POMC and 8 genes near it on chromosome 2, from 24,664,720 to 25,664,719.Chromosome 22p23.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.324.8 Mb25 Mb25.2 Mb25.4 Mb25.6 MbNCOA1: 24,490,983–24,770,702, forward strandNCOA1PTRHD1: 24,788,911–24,793,395, reverse strandPTRHD1CENPO: 24,793,100–24,822,376, forward strandCENPOADCY3: 24,819,169–24,920,299, reverse strandADCY3DNAJC27: 24,943,636–24,972,094, reverse strandDNAJC27EFR3B: 25,042,048–25,159,135, forward strandEFR3BPOMC: 25,160,860–25,168,580, reverse strandPOMCDNMT3A: 25,227,855–25,342,590, reverse strandDNMT3ADTNB: 25,377,028–25,673,717, reverse strandDTNBDiagram of POMC: 3 exons on the reverse strand of chromosome 2Exon 3: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 3: 25,160,860–25,161,752, 893 basesExon 2: 25,164,641–25,164,792, 152 basesExon 1: 25,168,498–25,168,580, 83 bases3215′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 1.1 kb of the gene's 7.7 kb; 804 of those bases code for the protein.

How a genome test reads POMC

7

positions in POMC 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 7.7 kb of POMC, introns included, not only the 1.1 kb of exons.

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.). POMC gene: proopiomelanocortin. Retrieved 16 October 2026, from https://dantelabs.com/genes/pomc

Vancouver

Dante Labs. POMC gene: proopiomelanocortin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pomc

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