GHSR

Chr 3q26.31

growth hormone secretagogue receptor

Aliases:: GHS-R1a, GHS-R, GHSR-1a
MANE:: ENST00000241256.3

OMIM: 601898 ↗NCBI: 2693 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GHSR · Q92847

v62025-08-01

Predicted Aligned Error matrix for GHSR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.6/ 100

Confident

366 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)27%
Low(50–70)12%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Pituitary hormone deficiency
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IUGR and IGF abnormalities
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic short stature
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteogenesis imperfecta

Disease associations (Open Targets)

short stature due to GHSR deficiency
0.67
non-small cell lung carcinoma
0.49
Abnormality of the skeletal system
0.46
cancer
0.39
fibromyalgia
0.39
malignant pancreatic neoplasm
0.39
colorectal cancer
0.39
gastroparesis
0.38
Cachexia
0.38
gastric cancer
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Growth hormone secretagogue receptor type 1

G protein-coupled receptor specific to ghrelin, an appetite-regulating peptide hormone commonly found in stomach (PubMed:35027551, PubMed:39833471). Upon activation, stimulates appetite and promotes growth hormone secretion (PubMed:11322507, PubMed:10604470, PubMed:35027551, PubMed:39833471). Also binds other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692, 429, MK-0677, adenosine) (PubMed:11322507, PubMed:10604470)