GHR (growth hormone receptor)

2007-02-01  

Identity

HGNC
GHR
LOCATION
5p12
LOCUSID
2690
ALIAS
GHBP,GHIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2690
MIM: 600946
HGNC: 4263
Ensembl: ENSG00000112964

Variants:

dbSNP: 2690
ClinVar: 2690
TCGA: ENSG00000112964
COSMIC: GHR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112964ENST00000230882P10912
ENSG00000112964ENST00000357703P10912
ENSG00000112964ENST00000511135E7ES05
ENSG00000112964ENST00000513671E9PCN7
ENSG00000112964ENST00000537449P10912
ENSG00000112964ENST00000612382P10912
ENSG00000112964ENST00000612626P10912
ENSG00000112964ENST00000615111P10912
ENSG00000112964ENST00000618088P10912
ENSG00000112964ENST00000620156A0A087X0H5
ENSG00000112964ENST00000622294A0A087X162

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
Neuroactive ligand-receptor interactionKEGGko04080
Jak-STAT signaling pathwayKEGGko04630
Cytokine-cytokine receptor interactionKEGGhsa04060
Neuroactive ligand-receptor interactionKEGGhsa04080
Jak-STAT signaling pathwayKEGGhsa04630
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Growth hormone receptor signalingREACTOMER-HSA-982772
Prolactin receptor signalingREACTOMER-HSA-1170546

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
365621102023Conditional gene regulation models demonstrate a pro-proliferative role for growth hormone receptor in prostate cancer.1
365621102023Conditional gene regulation models demonstrate a pro-proliferative role for growth hormone receptor in prostate cancer.1
348630242022Genetic effect of single nucleotide polymorphisms in growth hormone receptor gene on the risk of non-syndromic mandibular prognathism in the Korean population.1
357807152022Expression of IGF-1 receptor and GH receptor in hepatic tissue of patients with nonalcoholic fatty liver disease and nonalcoholic steatohepatitis.6
360613512022Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP and Growth and Development in Children with Short Stature Based on Big Data Analysis.1
363844432022Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue cells with obesity-related alterations in corresponding circulating levels and adipose tissue function in children.2
348630242022Genetic effect of single nucleotide polymorphisms in growth hormone receptor gene on the risk of non-syndromic mandibular prognathism in the Korean population.1
357807152022Expression of IGF-1 receptor and GH receptor in hepatic tissue of patients with nonalcoholic fatty liver disease and nonalcoholic steatohepatitis.6
360613512022Correlation Study between Levels of Gastrin, Serum IGF-1, and GHBP and Growth and Development in Children with Short Stature Based on Big Data Analysis.1
363844432022Associations of GHR, IGF-1 and IGFBP-3 expression in adipose tissue cells with obesity-related alterations in corresponding circulating levels and adipose tissue function in children.2
273551582021Growth hormone receptor polymorphisms and growth hormone response to stimulation test: a pilot study.0
330533932021IGF-I deficiency and enhanced insulin sensitivity due to a mutated growth hormone receptor gene in humans.5
334927542021GHR is involved in gastric cell growth and apoptosis via PI3K/AKT signalling.14
340748022021Association of growth hormone receptor gene variant with longevity in men is due to amelioration of increased mortality risk from hypertension.4
342185472021Mild phenotype in two siblings with a missense GHR variant.0

Citation

Dessen P

GHR (growth hormone receptor)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43660