GHRHR
Growth hormone-releasing hormone receptor
Also known as: GHRHR_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q02643
- Gene
- GHRHR
- Ensembl
- ENSG00000106128
- Chromosome
- 7
- Canonical length
- 423 aa
- Protein class
- Disease related genes, FDA approved drug targets, G-protein coupled receptors, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
Canonical amino-acid sequenceUniProt
423 residues, UniProt reviewed canonical sequence.
>Q02643|GHRHR
1 MDRRMWGAHV FCVLSPLPTV LGHMHPECDF ITQLREDESA CLQAAEEMPN TTLGCPATWD
61 GLLCWPTAGS GEWVTLPCPD FFSHFSSESG AVKRDCTITG WSEPFPPYPV ACPVPLELLA
121 EEESYFSTVK IIYTVGHSIS IVALFVAITI LVALRRLHCP RNYVHTQLFT TFILKAGAVF
181 LKDAALFHSD DTDHCSFSTV LCKVSVAASH FATMTNFSWL LAEAVYLNCL LASTSPSSRR
241 AFWWLVLAGW GLPVLFTGTW VSCKLAFEDI ACWDLDDTSP YWWIIKGPIV LSVGVNFGLF
301 LNIIRILVRK LEPAQGSLHT QSQYWRLSKS TLFLIPLFGI HYIIFNFLPD NAGLGIRLPL
361 ELGLGSFQGF IVAILYCFLN QEVRTEISRK WHGHDPELLP AWRTRAKWTT PSRSAAKVLT
421 SMCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GHRHR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 197 nTPM
Expression across tissuesHPA
Tissue
- pituitary gland: 197 nTPM
- liver: 0.5 nTPM
- adrenal gland: 0.4 nTPM
- kidney: 0.4 nTPM
- prostate: 0.3 nTPM
- gallbladder: 0.2 nTPM
Single-cell type
- somatotrophs: 663 nCPM
- thyrotrophs: 101 nCPM
- lactotrophs: 19 nCPM
- cholangiocytes: 18 nCPM
- lacrimal acinar cells: 10 nCPM
- early primary spermatocytes: 8.5 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 0.3 nTPM
- medulla oblongata: 0.1 nTPM
- midbrain: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GHRHR.
Disease | AllUniProt
Conditions GHRHR is implicated in, by any mechanism.
- Growth hormone deficiency, isolated, 4 (IGHD4) MIM:618157
Disease | GeneticClinVar
40 pathogenic / likely-pathogenic of 344 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Isolated growth hormone deficiency, type 4
- Isolated growth hormone deficiency type IB
- Pituitary hormone deficiency
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.93
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.5
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adenylate cyclase-activating G protein-coupled receptor signaling pathway
- cAMP/PKA signal transduction
- cell maturation
- cell surface receptor signaling pathway
- cellular response to glucose stimulus
- cellular response to insulin stimulus
- determination of adult lifespan
- establishment of localization in cell
- growth hormone secretion
- hormone metabolic process
- lactation
- positive regulation of cell population proliferation
- positive regulation of circadian sleep/wake cycle, non-REM sleep
- positive regulation of growth hormone secretion
- positive regulation of insulin-like growth factor receptor signaling pathway
- positive regulation of multicellular organism growth
- regulation of protein metabolic process
- response to estrogen
- response to glucocorticoid
- response to insulin
- regulation of intracellular steroid hormone receptor signaling pathway
- somatotropin secreting cell development
Molecular functions
- G protein-coupled peptide receptor activity
- G protein-coupled receptor activity
- growth factor binding
- growth hormone-releasing hormone receptor activity
- peptide hormone binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- GPCR, family 2, secretin-like
- GPCR, family 2, extracellular hormone receptor domain
- GPCR, family 2-like, 7TM
- GPCR, family 2, secretin-like, conserved site
- GPCR family 2, extracellular hormone receptor domain superfamily
- G-protein coupled receptor 2
- 7 transmembrane receptor (Secretin family)
- Hormone receptor domain
- GPCR, family 2, growth hormone-releasing hormone receptor
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GHRHR as an antibody target. Whether an autoantibody or antibody against GHRHR could matter depends on whether native GHRHR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GHRHR is annotated at the cell surface, where native GHRHR is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GHRHR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...