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Gene

GHR

growth hormone receptor

Summary

Cytogenetic location
5p13.1-p12
Coordinates
Chromosome 5: 42,423,439–42,721,878 (GRCh38)
Exons
10 exons across 298.4 kb
Protein
638 amino acids
Also known as
GHBP
MANE Select transcript
ENST00000230882.9NM_000163.5
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

  • Growth Hormone Insensitivity & IGF-1 Axis Disorders

    • Growth hormone insensitivity syndrome

      Short stature with normal or high growth hormone but low IGF-1, including Laron syndrome (GHR), IGF1, IGFALS and IGF1R defects, and STAT5B deficiency with immune dysregulation.

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

      Recombinant IGF-1 (mecasermin) can improve growth in some forms; STAT5B deficiency also needs immune and lung follow-up.

How GHR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where GHR sits. GHR and 4 genes near it on chromosome 5, from 42,072,659 to 43,072,658.Chromosome 55p13.1-p12p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.342.2 Mb42.4 Mb42.6 Mb42.8 Mb43 MbGHR: 42,423,439–42,721,878, forward strandGHRCCDC152: 42,756,799–42,802,581, forward strandCCDC152SELENOP: 42,795,418–42,887,392, reverse strandSELENOPANXA2R: 43,039,233–43,043,170, reverse strandANXA2RZBTB35: 43,065,176–43,192,021, forward strandZBTB35Diagram of GHR: 10 exons on the forward strand of chromosome 5Exon 3: 1 known disease-causing siteExon 4: 5 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 1: 42,423,439–42,423,955, 517 basesExon 2: 42,565,864–42,565,944, 81 basesExon 3: 42,629,038–42,629,103, 66 basesExon 4: 42,688,890–42,689,019, 130 basesExon 5: 42,694,917–42,695,089, 173 basesExon 6: 42,699,824–42,700,002, 179 basesExon 7: 42,711,207–42,711,372, 166 basesExon 8: 42,713,429–42,713,519, 91 basesExon 9: 42,718,052–42,718,121, 70 basesExon 10: 42,718,453–42,721,878, 3,426 bases12468105′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 4.9 kb of the gene's 298.4 kb; 1,917 of those bases code for the protein.

How a genome test reads GHR

24

positions in GHR 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 298.4 kb of GHR, introns included, not only the 4.9 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.). GHR gene: growth hormone receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/ghr

Vancouver

Dante Labs. GHR gene: growth hormone receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ghr

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