ENSG00000106128


Homo sapiens

Features
Gene ID: ENSG00000106128
  
Biological name :GHRHR
  
Synonyms : GHRHR / growth hormone releasing hormone receptor / Q02643
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p14.3
Gene start: 30938669
Gene end: 30993254
  
Corresponding Affymetrix probe sets: 207825_s_at (Human Genome U133 Plus 2.0 Array)   211544_s_at (Human Genome U133 Plus 2.0 Array)   211545_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000387113
Ensembl peptide - ENSP00000386602
Ensembl peptide - ENSP00000480159
Ensembl peptide - ENSP00000320180
Ensembl peptide - ENSP00000338184
Ensembl peptide - ENSP00000379529
NCBI entrez gene - 2692     See in Manteia.
OMIM - 139191
RefSeq - XM_011515263
RefSeq - NM_000823
RefSeq Peptide - NP_000814
swissprot - Q02643
swissprot - Q8N6C4
swissprot - Q9HB42
swissprot - Q9HB43
swissprot - Q9HB44
swissprot - Q9HB45
swissprot - A0A090N8Y6
Ensembl - ENSG00000106128
  
Related genetic diseases (OMIM): 612781 - Growth hormone deficiency, isolated, type IB, 612781
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ghrhr2ENSDARG00000099218Danio rerio
 ghrhraENSDARG00000104961Danio rerio
 ghrhrbENSDARG00000053708Danio rerio
 GHRHRENSGALG00000005212Gallus gallus
 GhrhrENSMUSG00000004654Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
VIPR1 / P32241 / vasoactive intestinal peptide receptor 1ENSG0000011481242
SCTR / P47872 / secretin receptorENSG0000008029341
P41586 / ADCYAP1R1 / ADCYAP receptor type IENSG0000007854941
VIPR2 / P41587 / vasoactive intestinal peptide receptor 2ENSG0000010601839
PTH1R / Q03431 / parathyroid hormone 1 receptorENSG0000016080135
GLP1R / P43220 / glucagon like peptide 1 receptorENSG0000011216434
PTH2R / P49190 / parathyroid hormone 2 receptorENSG0000014440732
GLP2R / O95838 / glucagon like peptide 2 receptorENSG0000006532532
GCGR / P47871 / glucagon receptorENSG0000021564431
GIPR / P48546 / gastric inhibitory polypeptide receptorENSG0000001031030


Protein motifs (from Interpro)
Interpro ID Name
 IPR000832  GPCR, family 2, secretin-like
 IPR001879  GPCR, family 2, extracellular hormone receptor domain
 IPR003288  GPCR, family 2, growth hormone-releasing hormone receptor
 IPR017981  GPCR, family 2-like
 IPR017983  GPCR, family 2, secretin-like, conserved site
 IPR036445  GPCR family 2, extracellular hormone receptor domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA
 biological_processGO:0007190 activation of adenylate cyclase activity IEA
 biological_processGO:0007595 lactation IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:0008284 positive regulation of cell proliferation IDA
 biological_processGO:0008340 determination of adult lifespan IEA
 biological_processGO:0019933 cAMP-mediated signaling IMP
 biological_processGO:0021984 adenohypophysis development IEA
 biological_processGO:0030104 water homeostasis IEA
 biological_processGO:0030252 growth hormone secretion IEA
 biological_processGO:0030816 obsolete positive regulation of cAMP metabolic process IEA
 biological_processGO:0030879 mammary gland development IEA
 biological_processGO:0032868 response to insulin IMP
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0033143 regulation of intracellular steroid hormone receptor signaling pathway IEA
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0042445 hormone metabolic process IEA
 biological_processGO:0043567 regulation of insulin-like growth factor receptor signaling pathway IEA
 biological_processGO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway NAS
 biological_processGO:0043627 response to estrogen IDA
 biological_processGO:0046010 positive regulation of circadian sleep/wake cycle, non-REM sleep IEA
 biological_processGO:0046887 positive regulation of hormone secretion IEA
 biological_processGO:0048469 cell maturation IEA
 biological_processGO:0048609 multicellular organismal reproductive process NAS
 biological_processGO:0051246 regulation of protein metabolic process IEA
 biological_processGO:0051384 response to glucocorticoid IDA
 biological_processGO:0060124 positive regulation of growth hormone secretion NAS
 biological_processGO:0060133 somatotropin secreting cell development IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005637 nuclear inner membrane IDA
 cellular_componentGO:0005640 nuclear outer membrane IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0016363 nuclear matrix IDA
 cellular_componentGO:0030141 secretory granule IDA
 cellular_componentGO:0042383 sarcolemma IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016520 growth hormone-releasing hormone receptor activity NAS
 molecular_functionGO:0017046 peptide hormone binding IPI
 molecular_functionGO:0019838 growth factor binding IPI


Pathways (from Reactome)
Pathway description
G alpha (s) signalling events
Glucagon-type ligand receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000824 Growth hormone deficiency "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators]
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000118702 GHRH / P01286 / growth hormone releasing hormone  / complex / reaction






 

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