Gene
GHSR
growth hormone secretagogue receptor
- HGNC 4267↗(opens in a new tab)
- Ensembl gene ENSG00000121853↗(opens in a new tab)
- NCBI Gene 2693↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q26.31
- Coordinates
- Chromosome 3: 172,443,291–172,448,456 (GRCh38)
- Exons
- 2 exons across 5.2 kb
- Protein
- 366 amino acids
- Also known as
- GHS-R1a, GHS-R, GHSR-1a
- MANE Select transcript
- ENST00000241256.3NM_198407.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Growth Hormone Insensitivity & IGF-1 Axis Disorders
- Short stature due to GHSR deficiency
Short stature associated with variants in the ghrelin receptor gene.
- 1 GenCC submitter rates it definitive or strong
How GHSR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 3 kb of the gene's 5.2 kb; 1,101 of those bases code for the protein.
How a genome test reads GHSR
2
positions in GHSR 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 5.2 kb of GHSR, introns included, not only the 3 kb of exons.
Traits linked to GHSR
The Human Phenotype Ontology lists these as features of the rare conditions GHSR can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). GHSR gene: growth hormone secretagogue receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/ghsr
Dante Labs. GHSR gene: growth hormone secretagogue receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ghsr
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