Human Gene GHRHR (ENST00000326139.7_4) from GENCODE V47lift37
  Description: growth hormone releasing hormone receptor (from RefSeq NM_000823.4)
Gencode Transcript: ENST00000326139.7_4
Gencode Gene: ENSG00000106128.19_7
Transcript (Including UTRs)
   Position: hg19 chr7:31,003,568-31,019,143 Size: 15,576 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr7:31,003,684-31,018,859 Size: 15,176 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:31,003,568-31,019,143)mRNA (may differ from genome)Protein (423 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GHRHR_HUMAN
DESCRIPTION: RecName: Full=Growth hormone-releasing hormone receptor; Short=GHRH receptor; AltName: Full=Growth hormone-releasing factor receptor; Short=GRF receptor; Short=GRFR; Flags: Precursor;
FUNCTION: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Pituitary gland.
DISEASE: Defects in GHRHR are a cause of growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]; also known as dwarfism of Sindh. IGHD1B is an autosomal recessive deficiency of GH which causes short stature. IGHD1B patients have low but detectable levels of GH.
SIMILARITY: Belongs to the G-protein coupled receptor 2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GHRHR
Diseases sorted by gene-association score: growth hormone deficiency, isolated, type ib* (1568), isolated growth hormone deficiency, type ib, ghrhr-related* (100), growth hormone deficiency (43), isolated growth hormone deficiency (38), dwarfism (33), pituitary hypoplasia (9), growth hormone deficiency, isolated, type ii (8), pituitary stalk interruption syndrome (6), acromegaly (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 143.53 RPKM in Pituitary
Total median expression: 145.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.80116-0.291 Picture PostScript Text
3' UTR -100.60284-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017981 - GPCR_2-like
IPR001879 - GPCR_2_extracellular_dom
IPR003288 - GPCR_2_GHRH_rcpt
IPR000832 - GPCR_2_secretin-like
IPR017983 - GPCR_2_secretin-like_CS

Pfam Domains:
PF00002 - 7 transmembrane receptor (Secretin family)
PF02793 - Hormone receptor domain

SCOP Domains:
81321 - Family A G protein-coupled receptor-like
111418 - Hormone receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2XDG - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q02643
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004888 transmembrane signaling receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0005515 protein binding
GO:0016520 growth hormone-releasing hormone receptor activity
GO:0017046 peptide hormone binding
GO:0019838 growth factor binding

Biological Process:
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007190 activation of adenylate cyclase activity
GO:0007595 lactation
GO:0008284 positive regulation of cell proliferation
GO:0008340 determination of adult lifespan
GO:0019933 cAMP-mediated signaling
GO:0021984 adenohypophysis development
GO:0030104 water homeostasis
GO:0030252 growth hormone secretion
GO:0030816 positive regulation of cAMP metabolic process
GO:0030879 mammary gland development
GO:0032868 response to insulin
GO:0032869 cellular response to insulin stimulus
GO:0033143 regulation of intracellular steroid hormone receptor signaling pathway
GO:0040018 positive regulation of multicellular organism growth
GO:0042445 hormone metabolic process
GO:0043567 regulation of insulin-like growth factor receptor signaling pathway
GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway
GO:0043627 response to estrogen
GO:0046010 positive regulation of circadian sleep/wake cycle, non-REM sleep
GO:0046887 positive regulation of hormone secretion
GO:0048469 cell maturation
GO:0048609 multicellular organismal reproductive process
GO:0051246 regulation of protein metabolic process
GO:0051384 response to glucocorticoid
GO:0060124 positive regulation of growth hormone secretion
GO:0060133 somatotropin secreting cell development
GO:0071333 cellular response to glucose stimulus

Cellular Component:
GO:0005637 nuclear inner membrane
GO:0005640 nuclear outer membrane
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016363 nuclear matrix
GO:0030141 secretory granule
GO:0042383 sarcolemma


-  Descriptions from all associated GenBank mRNAs
  L01406 - Human growth hormone-releasing hormone receptor mRNA, complete cds.
L09237 - growth hormone releasing hormone receptor, human, G-protein coupled receptor, secretin family.
JD188857 - Sequence 169881 from Patent EP1572962.
JD045230 - Sequence 26254 from Patent EP1572962.
BC166636 - Synthetic construct Homo sapiens clone IMAGE:100066362, MGC:195499 growth hormone releasing hormone receptor (GHRHR) mRNA, encodes complete protein.
AY557192 - Homo sapiens growth hormone-releasing hormone receptor mRNA, complete cds.
GQ888699 - Homo sapiens growth hormone releasing hormone receptor variant 2 (GHRHR) mRNA, complete cds, alternatively spliced.
GQ888698 - Homo sapiens growth hormone releasing hormone receptor variant 1 (GHRHR) mRNA, complete cds, alternatively spliced.
AF282259 - Homo sapiens GHRH receptor splice variant 1 mRNA, complete cds.
AF282260 - Homo sapiens GHRH receptor splice variant 2 mRNA, complete cds.
AF282261 - Homo sapiens GHRH receptor splice variant 3 mRNA, complete cds.
AF282262 - Homo sapiens GHRH receptor splice variant 4 mRNA, complete cds.
GQ888700 - Homo sapiens growth hormone releasing hormone receptor variant 3 (GHRHR) mRNA, complete cds, alternatively spliced.
AB058895 - Homo sapiens GHRHRpsv mRNA for growth hormone releasing hormone receptor pituitary splice variant, complete cds.
GQ888701 - Homo sapiens growth hormone releasing hormone receptor variant 4 (GHRHR) mRNA, complete cds, alternatively spliced.
JD222339 - Sequence 203363 from Patent EP1572962.
JD199087 - Sequence 180111 from Patent EP1572962.
JD054478 - Sequence 35502 from Patent EP1572962.
JD117835 - Sequence 98859 from Patent EP1572962.
JD285805 - Sequence 266829 from Patent EP1572962.
JD259510 - Sequence 240534 from Patent EP1572962.
JD156579 - Sequence 137603 from Patent EP1572962.
JD153511 - Sequence 134535 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q02643 (Reactome details) participates in the following event(s):

R-HSA-420243 GHRH receptor binds GHRH
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000326139.1, ENST00000326139.2, ENST00000326139.3, ENST00000326139.4, ENST00000326139.5, ENST00000326139.6, GHRHR_HUMAN, NM_000823, Q02643, Q99863, uc317rzo.1, uc317rzo.2
UCSC ID: ENST00000326139.7_4
RefSeq Accession: NM_000823.4
Protein: Q02643 (aka GHRHR_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.