GHRHR

Chr 7p14.3

growth hormone releasing hormone receptor

MANE:: ENST00000326139.7

OMIM: 139191 ↗NCBI: 2692 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GHRHR · Q02643

v62025-08-01

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

Mean pLDDT

75.8/ 100

Confident

423 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)41%
Low(50–70)20%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

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

Disease associations (Open Targets)

isolated growth hormone deficiency, type 4
0.69
isolated growth hormone deficiency type IB
0.47
hypopituitarism
0.43
HIV-Associated Lipodystrophy Syndrome
0.37
neurodegenerative disease
0.33
adolescent idiopathic scoliosis
0.29
Abdominal obesity
0.26
ileostomy
0.25
hereditary disease
0.19
gastric ulcer
0.15

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

Protein function (UniProt)

Growth hormone-releasing hormone receptor

Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion