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Aliases for GNRHR Gene

Aliases for GNRHR Gene

  • Gonadotropin Releasing Hormone Receptor 2 3 5
  • Gonadotropin-Releasing Hormone Receptor 2 3
  • GnRH Receptor 3 4
  • GnRH-R 3 4
  • GRHR 3 4
  • Gonadotropin-Releasing Hormone (Type 1) Receptor 1 3
  • Leutinizing Hormone Releasing Horomone Receptor 3
  • Leutinizing-Releasing Hormone Receptor 3
  • Type I GnRH Receptor 3
  • Luliberin Receptor 3
  • GNRHR1 3
  • LHRHR 3
  • LRHR 3
  • HH7 3

External Ids for GNRHR Gene

Previous HGNC Symbols for GNRHR Gene

  • GRHR

Previous GeneCards Identifiers for GNRHR Gene

  • GC04M068517
  • GC04M068542
  • GC04M068609
  • GC04M068608
  • GC04M068434
  • GC04M068285
  • GC04M064516

Summaries for GNRHR Gene

Entrez Gene Summary for GNRHR Gene

  • This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GNRHR Gene

GNRHR (Gonadotropin Releasing Hormone Receptor) is a Protein Coding gene. Diseases associated with GNRHR include Hypogonadotropic Hypogonadism 7 Without Anosmia and Normosmic Congenital Hypogonadotropic Hypogonadism. Among its related pathways are Signaling by GPCR and Hormone ligand-binding receptors. GO annotations related to this gene include G-protein coupled receptor activity and gonadotropin-releasing hormone receptor activity. An important paralog of this gene is AVPR1A.

UniProtKB/Swiss-Prot for GNRHR Gene

  • Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling.

Tocris Summary for GNRHR Gene

  • Gonadotropin-releasing hormone (GnRH) receptors are a group of Gq/11-protein-coupled receptors that are divided into two subtypes; GnRH and GnRH2. GnRH receptors are predominantly expressed by pituitary gonadotrophs. GnRH2 is silenced in humans.

Gene Wiki entry for GNRHR Gene

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

Genomics for GNRHR Gene

Regulatory Elements for GNRHR Gene

Enhancers for GNRHR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F067720 1.3 Ensembl ENCODE 11.1 +34.5 34453 2.4 ATF1 PKNOX1 ARNT SIN3A YY1 ELK1 GATA2 FOS KLF13 NCOA1 UBA6 UBA6-AS1 GNRHR CENPC ENSG00000270257 LOC100419862 PIR51733
GH04F067725 1 Ensembl ENCODE 11.7 +29.5 29536 4.4 PKNOX1 CBX3 JUN NFXL1 KAT2B ZNF316 CBX5 NFE2 TRIM24 MAFK UBA6 GNRHR TMPRSS11D LOC100419046 GC04P067742
GH04F067712 1.1 Ensembl ENCODE 10.6 +42.0 42015 2.2 HDAC1 PKNOX1 THRB GATA2 CREM SMARCA5 ELF1 TFDP1 PBX2 IKZF1 UBA6 UBA6-AS1 GNRHR STAP1 ST3GAL1P1 GC04M067708
GH04F067713 0.5 ENCODE 10.6 +43.9 43869 0.0 CTCF GATA3 CTBP1 GNRHR STAP1 GC04M067708 ST3GAL1P1
GH04F067861 0.5 ENCODE 10.4 -105.6 -105635 1.0 MTA2 IKZF1 JUNB EBF1 TMPRSS11D GNRHR LOC102724780
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNRHR on UCSC Golden Path with GeneCards custom track

Genomic Location for GNRHR Gene

Chromosome:
4
Start:
67,737,375 bp from pter
End:
67,756,086 bp from pter
Size:
18,712 bases
Orientation:
Minus strand

Genomic View for GNRHR Gene

Genes around GNRHR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNRHR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNRHR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNRHR Gene

Proteins for GNRHR Gene

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

    Protein Symbol:
    P30968-GNRHR_HUMAN
    Recommended name:
    Gonadotropin-releasing hormone receptor
    Protein Accession:
    P30968
    Secondary Accessions:
    • O75793
    • Q14D13
    • Q92644

    Protein attributes for GNRHR Gene

    Size:
    328 amino acids
    Molecular mass:
    37731 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GNRHR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNRHR Gene

Post-translational modifications for GNRHR Gene

  • Glycosylation at Asn 18 and Asn 102
  • Modification sites at PhosphoSitePlus

Other Protein References for GNRHR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GNRHR Gene

Domains & Families for GNRHR Gene

Gene Families for GNRHR Gene

Suggested Antigen Peptide Sequences for GNRHR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30968

UniProtKB/Swiss-Prot:

GNRHR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with GNRHR: view

Function for GNRHR Gene

Molecular function for GNRHR Gene

GENATLAS Biochemistry:
gonadotropin releasing hormone receptor,G protein coupled receptor superfamily
UniProtKB/Swiss-Prot Function:
Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling.

Gene Ontology (GO) - Molecular Function for GNRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004968 gonadotropin-releasing hormone receptor activity IEA,TAS --
GO:0016500 protein-hormone receptor activity IEA --
GO:0042277 peptide binding IBA --
genes like me logo Genes that share ontologies with GNRHR: view
genes like me logo Genes that share phenotypes with GNRHR: view

Human Phenotype Ontology for GNRHR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GNRHR Gene

miRTarBase miRNAs that target GNRHR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GNRHR

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GNRHR Gene

Localization for GNRHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNRHR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNRHR gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 2
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GNRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8386108
GO:0016020 membrane TAS 9259321
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GNRHR: view

Pathways & Interactions for GNRHR Gene

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

Pathways by source for GNRHR Gene

Gene Ontology (GO) - Biological Process for GNRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,TAS --
GO:0007275 multicellular organism development TAS 10686191
GO:0097211 cellular response to gonadotropin-releasing hormone IEA --
genes like me logo Genes that share ontologies with GNRHR: view

No data available for SIGNOR curated interactions for GNRHR Gene

Drugs & Compounds for GNRHR Gene

(82) Drugs for GNRHR Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Degarelix Approved December of 2008 Pharma Antagonist, Target, antagonist 0
Cetrorelix Approved, Investigational Pharma Antagonist, antagonist, Target 63
Goserelin Approved Pharma Full agonist, Agonist, activator, Target, agonist 229
Leuprolide Approved, Investigational Pharma Full agonist, Agonist, activator, Target, agonist GnRH receptor agonist 293
Nafarelin Approved Pharma Full agonist, Agonist, agonist, Target 4

(27) Additional Compounds for GNRHR Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
antide
Antagonist
HMA
Negative, Allosteric regulator
TAK-013
Antagonist
Cetrorelix Acetate
145672-81-7

(5) Tocris Compounds for GNRHR Gene

Compound Action Cas Number
AG 045572 Selective GnRH receptor antagonist 263847-55-8
Cetrorelix Acetate Potent GnRH receptor antagonist 145672-81-7
Goserelin acetate GnRH receptor agonist 1233494-97-7
Leuprolide GnRH receptor agonist 53714-56-0
WAY 207024 dihydrochloride GnRH receptor antagonist 872002-73-8

(5) ApexBio Compounds for GNRHR Gene

Compound Action Cas Number
AG 045572 Selective GnRH receptor antagonist 263847-55-8
GnRH Associated Peptide (GAP) (1-13), human Asp-Ala-Glu-Asn-Leu-Ile-Asp-Ser-Phe-Gln-Glu-Ile-Val 100111-07-7
Leuprolide Acetate Pituitary GnRH receptors agonist 74381-53-6
T 98475 199119-18-1
WAY 207024 dihydrochloride GnRH-R antagonist, potent 872002-73-8
genes like me logo Genes that share compounds with GNRHR: view

Transcripts for GNRHR Gene

mRNA/cDNA for GNRHR Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GNRHR Gene

Gonadotropin-releasing hormone receptor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GNRHR

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for GNRHR Gene

GeneLoc Exon Structure for
GNRHR
ECgene alternative splicing isoforms for
GNRHR

Expression for GNRHR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNRHR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pituitary (x18.2).

NURSA nuclear receptor signaling pathways regulating expression of GNRHR Gene:

GNRHR

SOURCE GeneReport for Unigene cluster for GNRHR Gene:

Hs.407587

mRNA Expression by UniProt/SwissProt for GNRHR Gene:

P30968-GNRHR_HUMAN
Tissue specificity: Pituitary, ovary, testis, breast and prostate but not in liver and spleen.
genes like me logo Genes that share expression patterns with GNRHR: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GNRHR Gene

Orthologs for GNRHR Gene

This gene was present in the common ancestor of animals.

Orthologs for GNRHR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNRHR 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia GNRHR 35 34
  • 90.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GNRHR 34 35
  • 89.13 (n)
rat
(Rattus norvegicus)
Mammalia Gnrhr 34
  • 85.63 (n)
mouse
(Mus musculus)
Mammalia Gnrhr 34 16 35
  • 85.42 (n)
oppossum
(Monodelphis domestica)
Mammalia GNRHR 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNRHR 35
  • 68 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves GNRHR1/III 35
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia GNRHR 35
  • 36 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gnrhr1-A 34
zebrafish
(Danio rerio)
Actinopterygii GNRHR 35
  • 32 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta GRHR 36 35
  • 32 (a)
GRHRII 36
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea F54D7.3 36
  • 27 (a)
gnrr-1 35
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToOne
Species where no ortholog for GNRHR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for GNRHR Gene

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

Paralogs for GNRHR Gene

Paralogs for GNRHR Gene

(3) SIMAP similar genes for GNRHR Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for GNRHR Gene

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

Variants for GNRHR Gene

Sequence variations from dbSNP and Humsavar for GNRHR Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs104893836 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110], Pathogenic 67,754,019(-) AGTCC(A/G)ATGGT reference, missense
rs104893838 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110], Pathogenic 67,753,950(-) CCCAG(A/C/G)CTTCA reference, missense
rs104893839 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110], Pathogenic 67,744,659(-) TTCAG(A/C)TGCCT reference, missense
rs104893840 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110], Pathogenic 67,753,832(-) AGTAG(A/T)GTCTT reference, missense
rs104893842 Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110], Pathogenic 67,753,920(-) GGACC(A/G)CTCCC reference, missense

Variation tolerance for GNRHR Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNRHR Gene

Human Gene Mutation Database (HGMD)
GNRHR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNRHR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GNRHR Gene

Disorders for GNRHR Gene

MalaCards: The human disease database

(15) MalaCards diseases for GNRHR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GNRHR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNRHR_HUMAN
  • Hypogonadotropic hypogonadism 7 with or without anosmia (HH7) [MIM:146110]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:10022417, ECO:0000269 PubMed:10084584, ECO:0000269 PubMed:10523035, ECO:0000269 PubMed:11318785, ECO:0000269 PubMed:11397842, ECO:0000269 PubMed:11397871, ECO:0000269 PubMed:12679486, ECO:0000269 PubMed:23643382, ECO:0000269 PubMed:25077900, ECO:0000269 PubMed:9371856, ECO:0000269 PubMed:9425890}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in GNRHR as well as in other HH-associated genes including FGFR1 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.

Genatlas disease for GNRHR Gene

idiopathic hypogonadotropic hypogonadism

Relevant External Links for GNRHR

Genetic Association Database (GAD)
GNRHR
Human Genome Epidemiology (HuGE) Navigator
GNRHR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNRHR
genes like me logo Genes that share disorders with GNRHR: view

Publications for GNRHR Gene

  1. Cloning and characterization of the human GnRH receptor. (PMID: 8386108) Chi L. … Sealfon S.C. (Mol. Cell. Endocrinol. 1993) 2 3 4 22 64
  2. The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. (PMID: 16213849) Bhagavath B. … Layman L.C. (Fertil. Steril. 2005) 3 22 46 64
  3. Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. (PMID: 16322390) Lanfranco F. … Simoni M. (Eur. J. Endocrinol. 2005) 3 22 46 64
  4. Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. (PMID: 12679486) Karges B. … de Roux N. (J. Clin. Endocrinol. Metab. 2003) 3 4 22 64
  5. Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site. (PMID: 11994356) Maya-Nunez G. … Mendez J.P. (J. Clin. Endocrinol. Metab. 2002) 3 4 22 64

Products for GNRHR Gene

Sources for GNRHR Gene

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