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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
208106042010Eighteen insulin-like growth factor pathway genes, circulating levels of IGF-I and its binding protein, and risk of prostate and breast cancer.34
206341972010Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.25
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
208197782010MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.21
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
199659162010Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene.20
199659162010Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene.20

Citation

Dessen P

GHRHR (growth hormone releasing hormone receptor)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46213/ghrhr