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Gene

LEPR

leptin receptor

Summary

Cytogenetic location
1p31.3
Coordinates
Chromosome 1: 65,420,668–65,641,559 (GRCh38)
Exons
20 exons across 220.9 kb
Protein
1,165 amino acids
Also known as
OBR, CD295, LEP-R, OB-R
MANE Select transcript
ENST00000349533.11NM_002303.6
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 reports relevant to this gene

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 3 GenCC submitters rate it definitive or strong

  • 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.

      • 3 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 LEPR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where LEPR sits. LEPR and 5 genes near it on chromosome 1, from 65,031,114 to 66,031,113.Chromosome 11p31.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4465.2 Mb65.4 Mb65.6 Mb65.8 Mb66 MbJAK1: 64,833,223–65,067,754, reverse strandJAK1AK4: 65,146,902–65,232,196, forward strandAK4DNAJC6: 65,248,219–65,415,871, forward strandDNAJC6LEPROT: 65,420,547–65,436,051, forward strandLEPROTLEPR: 65,420,668–65,641,559, forward strandLEPRPDE4B: 65,792,514–66,374,582, forward strandPDE4BDiagram of LEPR: 20 exons on the forward strand of chromosome 1Exon 4: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 1: 65,420,668–65,420,740, 73 basesExon 2: 65,425,303–65,425,378, 76 basesExon 3: 65,565,546–65,565,605, 60 basesExon 4: 65,570,473–65,570,802, 330 basesExon 5: 65,572,326–65,572,449, 124 basesExon 6: 65,592,657–65,592,865, 209 basesExon 7: 65,596,448–65,596,593, 146 basesExon 8: 65,598,660–65,598,804, 145 basesExon 9: 65,601,392–65,601,682, 291 basesExon 10: 65,601,843–65,601,960, 118 basesExon 11: 65,605,038–65,605,237, 200 basesExon 12: 65,608,753–65,608,901, 149 basesExon 13: 65,609,947–65,610,106, 160 basesExon 14: 65,610,214–65,610,296, 83 basesExon 15: 65,616,008–65,616,224, 217 basesExon 16: 65,617,964–65,618,146, 183 basesExon 17: 65,619,928–65,620,023, 96 basesExon 18: 65,621,353–65,621,458, 106 basesExon 19: 65,622,906–65,622,981, 76 basesExon 20: 65,636,191–65,641,559, 5,369 bases151015205′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 8.2 kb of the gene's 220.9 kb; 3,498 of those bases code for the protein.

How a genome test reads LEPR

8

positions in LEPR 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 220.9 kb of LEPR, introns included, not only the 8.2 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.). LEPR gene: leptin receptor. Retrieved 16 October 2026, from https://dantelabs.com/genes/lepr

Vancouver

Dante Labs. LEPR gene: leptin receptor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lepr

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