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Aliases for GHRHR Gene

Aliases for GHRHR Gene

  • Growth Hormone Releasing Hormone Receptor 2 3
  • GHRH Receptor 3 4
  • GRF Receptor 3 4
  • IGHD1B 3 6
  • GHRFR 3 6
  • GRFR 3 4
  • Growth Hormone-Releasing Hormone Receptor 3
  • Growth Hormone-Releasing Factor Receptor 4

External Ids for GHRHR Gene

Previous GeneCards Identifiers for GHRHR Gene

  • GC07P030646
  • GC07P030745
  • GC07P030776
  • GC07P030970
  • GC07P030885

Summaries for GHRHR Gene

Entrez Gene Summary for GHRHR 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]

GeneCards Summary for GHRHR Gene

GHRHR (Growth Hormone Releasing Hormone Receptor) is a Protein Coding gene. Diseases associated with GHRHR include isolated growth hormone deficiency, type ib, ghrhr-related and growth hormone deficiency, isolated, type ib. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and peptide hormone binding. An important paralog of this gene is VIPR2.

UniProtKB/Swiss-Prot for GHRHR Gene

  • Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion

Gene Wiki entry for GHRHR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GHRHR Gene

Genomics for GHRHR Gene

Regulatory Elements for GHRHR Gene

Genomic Location for GHRHR Gene

Start:
30,938,669 bp from pter
End:
30,993,254 bp from pter
Size:
54,586 bases
Orientation:
Plus strand

Genomic View for GHRHR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GHRHR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GHRHR Gene

Proteins for GHRHR Gene

  • Protein details for GHRHR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02643-GHRHR_HUMAN
    Recommended name:
    Growth hormone-releasing hormone receptor
    Protein Accession:
    Q02643
    Secondary Accessions:
    • Q99863

    Protein attributes for GHRHR Gene

    Size:
    423 amino acids
    Molecular mass:
    47402 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GHRHR Gene

neXtProt entry for GHRHR Gene

Proteomics data for GHRHR Gene at MOPED

Post-translational modifications for GHRHR Gene

Other Protein References for GHRHR Gene

Antibody Products

No data available for DME Specific Peptides for GHRHR Gene

Domains for GHRHR Gene

Gene Families for GHRHR Gene

HGNC:
  • GCGR :GPCR / Class B : Glucagon receptors
IUPHAR :

Suggested Antigen Peptide Sequences for GHRHR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02643

UniProtKB/Swiss-Prot:

GHRHR_HUMAN :
  • Q02643
Family:
  • Belongs to the G-protein coupled receptor 2 family.
genes like me logo Genes that share domains with GHRHR: view

Function for GHRHR Gene

Molecular function for GHRHR Gene

GENATLAS Biochemistry: growth hormone releasing hormone receptor,G protein coupled receptor superfamily
UniProtKB/Swiss-Prot Function: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion

Gene Ontology (GO) - Molecular Function for GHRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity --
GO:0004930 G-protein coupled receptor activity IC 1333056
GO:0005515 protein binding IPI 1333056
GO:0016520 growth hormone-releasing hormone receptor activity IMP 7680413
GO:0017046 peptide hormone binding IPI 7680413
genes like me logo Genes that share ontologies with GHRHR: view
genes like me logo Genes that share phenotypes with GHRHR: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GHRHR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for GHRHR Gene

Localization for GHRHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GHRHR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GHRHR Gene COMPARTMENTS Subcellular localization image for GHRHR gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 1

Gene Ontology (GO) - Cellular Components for GHRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005637 nuclear inner membrane IDA 10461027
GO:0005640 nuclear outer membrane IDA 10461027
GO:0005737 cytoplasm IDA 10461027
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 1333056
genes like me logo Genes that share ontologies with GHRHR: view

Pathways for GHRHR Gene

genes like me logo Genes that share pathways with GHRHR: view

Pathways by source for GHRHR Gene

1 Qiagen pathway for GHRHR Gene
2 BioSystems pathways for GHRHR Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GHRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
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 IDA 1333056
genes like me logo Genes that share ontologies with GHRHR: view

Compounds for GHRHR Gene

(2) Drugbank Compounds for GHRHR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Sermorelin
86168-78-7 target agonist
Tesamorelin
  • Egrifta
901758-09-6 target binder

(1) IUPHAR Ligand for GHRHR Gene

Ligand Type Action Affinity Pubmed IDs
BIM28011 Agonist Full agonist

(16) Novoseek inferred chemical compound relationships for GHRHR Gene

Compound -log(P) Hits PubMed IDs
ghrp 73.8 1
hexarelin 50.4 1
adenylate 48 3
ribonucleic acid 33.5 3
forskolin 29.8 1
genes like me logo Genes that share compounds with GHRHR: view

Transcripts for GHRHR Gene

mRNA/cDNA for GHRHR Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GHRHR

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GHRHR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - - - -
SP7: -

Relevant External Links for GHRHR Gene

GeneLoc Exon Structure for
GHRHR
ECgene alternative splicing isoforms for
GHRHR

Expression for GHRHR Gene

mRNA expression in normal human tissues for GHRHR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GHRHR Gene

This gene is overexpressed in Pituitary (52.0).

SOURCE GeneReport for Unigene cluster for GHRHR Gene Hs.767

mRNA Expression by UniProt/SwissProt for GHRHR Gene

Q02643-GHRHR_HUMAN
Tissue specificity: Pituitary gland
genes like me logo Genes that share expressions with GHRHR: view

In Situ Assay Products

No data available for Protein expression for GHRHR Gene

Orthologs for GHRHR Gene

This gene was present in the common ancestor of chordates.

Orthologs for GHRHR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GHRHR 35
  • 99.13 (n)
  • 99.05 (a)
GHRHR 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GHRHR 35
  • 85.33 (n)
  • 84.69 (a)
GHRHREC 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GHRHR 35
  • 87.55 (n)
  • 87.47 (a)
GHRHR 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ghrhr 35
  • 82.82 (n)
  • 81.56 (a)
Ghrhr 16
Ghrhr 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GHRHR 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ghrhr 35
  • 83.06 (n)
  • 82.03 (a)
chicken
(Gallus gallus)
Aves GHRHR 35
  • 62.94 (n)
  • 62.29 (a)
GHRHR 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GHRHR 36
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ghrhrl 35
  • 60.96 (n)
  • 57.37 (a)
Species with no ortholog for GHRHR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GHRHR Gene

ENSEMBL:
Gene Tree for GHRHR (if available)
TreeFam:
Gene Tree for GHRHR (if available)

Paralogs for GHRHR Gene

Selected SIMAP similar genes for GHRHR Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GHRHR: view

Variants for GHRHR Gene

Sequence variations from dbSNP and Humsavar for GHRHR Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs2586 -- 30,979,391(+) TCTGC(A/C)TCTGA utr-variant-3-prime
rs2741 -- 30,975,950(+) AGCAC(G/T)CATGA intron-variant
rs740336 Benign 30,972,062(+) TTCCA(C/T)AGCGA reference, synonymous-codon
rs758001 -- 30,972,910(+) TAAGT(C/G)CTTTA intron-variant
rs2074780 -- 30,974,242(+) GAGAA(G/T)GAGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GHRHR Gene

Variant ID Type Subtype PubMed ID
nsv436557 CNV Deletion 17901297
nsv527038 CNV Gain 19592680
nsv527586 CNV Loss 19592680

Relevant External Links for GHRHR Gene

HapMap Linkage Disequilibrium report
GHRHR
Human Gene Mutation Database (HGMD)
GHRHR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GHRHR Gene

Disorders for GHRHR Gene

(1) OMIM Diseases for GHRHR Gene (139191)

UniProtKB/Swiss-Prot

GHRHR_HUMAN
  • Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. {ECO:0000269 PubMed:10084571, ECO:0000269 PubMed:11232012, ECO:0000269 PubMed:12534354}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for GHRHR Gene

(22) Novoseek inferred disease relationships for GHRHR Gene

Disease -log(P) Hits PubMed IDs
growth hormone deficiency 80.7 10
dwarfism 73.1 12
short stature 64.3 2
pituitary tumors 61.4 7
pituitary adenoma 60.1 15

Genatlas disease for GHRHR Gene

dwarfism with growth hormone deficiency

Relevant External Links for GHRHR

Genetic Association Database (GAD)
GHRHR
Human Genome Epidemiology (HuGE) Navigator
GHRHR
genes like me logo Genes that share disorders with GHRHR: view

Publications for GHRHR Gene

  1. Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. (PMID: 7680413) Gaylinn B.D. … Thorner M.O. (Mol. Endocrinol. 1993) 2 3 4 23
  2. Familial dwarfism due to a novel mutation of the growth hormone- releasing hormone receptor gene. (PMID: 10084571) Salvatori R. … Levine M.A. (J. Clin. Endocrinol. Metab. 1999) 3 4 23
  3. Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. (PMID: 11232012) Salvatori R. … Levine M.A. (J. Clin. Endocrinol. Metab. 2001) 3 4 23
  4. A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. (PMID: 12534354) Carakushansky M. … Salvatori R. (Eur. J. Endocrinol. 2003) 3 4 23
  5. Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone. (PMID: 16284391) Mulhall C. … Boyd N.F. (Cancer Epidemiol. Biomarkers Prev. 2005) 3 23 48

Products for GHRHR Gene

  • Addgene plasmids for GHRHR

Sources for GHRHR Gene

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