GHRHR (growth hormone releasing hormone receptor)

2007-02-01  

Identity

HGNC
GHRHR
LOCATION
7p14.3
LOCUSID
2692
ALIAS
GHRFR,GRFR,IGHD1B,IGHD4

Other Information

Locus ID:

NCBI: 2692
MIM: 139191
HGNC: 4266
Ensembl: ENSG00000106128

Variants:

dbSNP: 2692
ClinVar: 2692
TCGA: ENSG00000106128
COSMIC: GHRHR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106128ENST00000326139Q02643
ENSG00000106128ENST00000326139A0A090N8Y6
ENSG00000106128ENST00000337750Q9HB42
ENSG00000106128ENST00000396227Q9HB44
ENSG00000106128ENST00000409316Q9HB43
ENSG00000106128ENST00000409904Q9HB45
ENSG00000106128ENST00000611037Q8N6C4

Expression (GTEx)

0
50
100
150
200
250
300
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
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class B/2 (Secretin family receptors)REACTOMER-HSA-373080
Glucagon-type ligand receptorsREACTOMER-HSA-420092
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

References

Pubmed IDYearTitleCitations
379485642023Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.0
379485642023Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.0
355660202022Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches.2
355660202022Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches.2
329352642021Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.15
345990992021Constitutive signal bias mediated by the human GHRHR splice variant 1.6
329352642021Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.15
345990992021Constitutive signal bias mediated by the human GHRHR splice variant 1.6
319021142020Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene.2
321230642020Signaling mechanisms of growth hormone-releasing hormone receptor in LPS-induced acute ocular inflammation.15
330605642020Structural basis for activation of the growth hormone-releasing hormone receptor.27
319021142020Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene.2
321230642020Signaling mechanisms of growth hormone-releasing hormone receptor in LPS-induced acute ocular inflammation.15
330605642020Structural basis for activation of the growth hormone-releasing hormone receptor.27
308310842019Growth hormone-releasing hormone receptor mediates cytokine production in ciliary and iris epithelial cells during LPS-induced ocular inflammation.12

Citation

Dessen P

GHRHR (growth hormone releasing hormone receptor)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46213/css/hgnc