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 th... See more...

Aliases for GNRHR Gene

Aliases for GNRHR Gene

  • Gonadotropin Releasing Hormone Receptor 2 3 5
  • Gonadotropin-Releasing Hormone Receptor 2 3 4
  • GnRH Receptor 3 4
  • GnRH-R 3 4
  • LHRHR 2 3
  • 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
  • GNRHR 5
  • 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 With Or Without Anosmia and Normosmic Congenital Hypogonadotropic Hypogonadism. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (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 OXTR.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNRHR Gene

Genomics for GNRHR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GNRHR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J067754 Promoter 0.3 EPDnew 250.7 0.0 -20 0.1 GNRHR lnc-STAP1-16 UBA6-AS1 TMPRSS11D
GH04J067543 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +209.4 209387 3.2 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF600 POLR2A BRCA1 YY1 MXD4 CENPC lnc-STAP1-14 UBA6 YTHDC1 LOC101927237 ENSG00000270257 GNRHR STAP1 ENSG00000227725 piR-61514-125
GH04J067720 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.2 +33.0 33007 3 MYC NCOR1 IKZF1 ZNF592 NFIC NONO REST SMAD5 HES1 MNT LOC100419862 piR-35568-004 piR-38922 piR-57734 UBA6 CENPC YTHDC1 UBA6-AS1 ENSG00000270257 GNRHR
GH04J067725 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.7 +27.8 27837 4.4 YY1 MAFF FOXA2 RXRA ZNF316 NFE2 MAFK CBX1 JUND CTCF ENSG00000270292 LOC100419046 lnc-GNRHR-1 UBA6 GNRHR TMPRSS11D lnc-STAP1-15 UBA6-AS1
GH04J067713 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.6 +41.2 41199 4 NCOR1 MYC IKZF1 ZNF592 ZIC2 NONO BHLHE40 MNT ZNF217 CTBP1 UBA6 UBA6-AS1 GNRHR STAP1 ST3GAL1P1 lnc-UBA6-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNRHR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNRHR

Top Transcription factor binding sites by QIAGEN in the GNRHR gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • Evi-1
  • FAC1
  • FOXF2
  • FOXO3
  • GATA-1

Genomic Locations for GNRHR Gene

Latest Assembly
chr4:67,737,118-67,754,388
(GRCh38/hg38)
Size:
17,271 bases
Orientation:
Minus strand

Previous Assembly
chr4:68,602,836-68,620,106
(GRCh37/hg19 by Entrez Gene)
Size:
17,271 bases
Orientation:
Minus strand

chr4:68,605,046-68,620,078
(GRCh37/hg19 by Ensembl)
Size:
15,033 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

    Three dimensional structures from OCA and Proteopedia for GNRHR Gene

    Alternative splice isoforms for GNRHR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNRHR Gene

Post-translational modifications for GNRHR Gene

  • Glycosylation at Asn18 and Asn102
  • Modification sites at PhosphoSitePlus

Other Protein References for GNRHR Gene

No data available for DME Specific Peptides for GNRHR Gene

Domains & Families for GNRHR Gene

Gene Families for GNRHR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for GNRHR Gene

InterPro:
Blocks:
  • Gonadotrophin releasing hormone receptor signature

Suggested Antigen Peptide Sequences for GNRHR Gene

GenScript: Design optimal peptide antigens:
  • Gonadotropin-releasing hormone receptor (GNRHR_HUMAN)

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

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.
GENATLAS Biochemistry:
gonadotropin releasing hormone receptor,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for GNRHR Gene

Gene Ontology (GO) - Molecular Function for GNRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IBA 21873635
GO:0004968 gonadotropin-releasing hormone receptor activity TAS,IBA 21873635
GO:0016500 protein-hormone receptor activity IEA --
GO:0042277 peptide binding IBA 21873635
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

miRNA for GNRHR Gene

miRTarBase miRNAs that target GNRHR

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNRHR

Clone products for research

  • Addgene plasmids for GNRHR

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
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 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 IBA,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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNRHR Gene

Pathways & Interactions for GNRHR Gene

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

Pathways by source for GNRHR Gene

1 GeneGo (Thomson Reuters) pathway for GNRHR Gene
  • Development Role of Activin A in cell differentiation and proliferation
1 Qiagen pathway for GNRHR Gene
  • GnRH Signaling

SIGNOR curated interactions for GNRHR Gene

Activates:

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 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

Drugs & Compounds for GNRHR Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nafarelin Approved Pharma Agonist, Full agonist, Target GnRH receptor agonist 5
Cetrorelix Approved, Investigational Pharma Antagonist, Target 100
Degarelix Approved Pharma Antagonist, Target 0
Goserelin Approved Pharma Agonist, Full agonist, Target, activator 300
Leuprolide Approved, Investigational Pharma Agonist, Full agonist, Target, activator GnRH receptor agonist 391

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
antide
Antagonist
HMA
Allosteric regulator, Negative
TAK-013
Antagonist
Goserelin acetate
1233494-97-7

(5) Tocris Compounds for GNRHR Gene

Compound Action Cas Number
AG 045572 Selective GnRH receptor antagonist 263847-55-8
Goserelin acetate GnRH receptor agonist 1233494-97-7
Leuprolide GnRH receptor agonist 53714-56-0
Nafarelin GnRH receptor agonist 76932-56-4
T 98475 GnRH receptor antagonist 199119-18-1

(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

Drug products for research

Transcripts for GNRHR Gene

mRNA/cDNA for GNRHR Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNRHR

Clone products for research

  • Addgene plasmids for GNRHR

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

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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for GNRHR Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNRHR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GNRHR: view

Primer products for research

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 29 30
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GNRHR 29 30
  • 90.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GNRHR 29 30
  • 89.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gnrhr 29
  • 85.63 (n)
Mouse
(Mus musculus)
Mammalia Gnrhr 29 16 30
  • 85.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GNRHR 30
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GNRHR 30
  • 68 (a)
OneToMany
-- 30
  • 62 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GNRHR1/III 30
  • 32 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia GNRHR 30
  • 36 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gnrhr1-A 29
Zebrafish
(Danio rerio)
Actinopterygii GNRHR 30
  • 32 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta GRHRII 31
  • 29 (a)
GRHR 30 31
  • 21 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F54D7.3 31
  • 27 (a)
gnrr-1 30
  • 23 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 20 (a)
OneToOne
Species where no ortholog for GNRHR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GNRHR: view image
Alliance of Genome Resources:
Additional Orthologs for GNRHR

Paralogs for GNRHR Gene

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

  • GNRHR_HUMAN
  • V9GZJ6_HUMAN
  • V9GZN9_HUMAN

Pseudogenes.org Pseudogenes for GNRHR Gene

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

Variants for GNRHR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNRHR Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
189195 Likely Pathogenic: Hypogonadotropic hypogonadism 7 with or without anosmia; not provided 67,754,305(-) GA/TT
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys)
MISSENSE
904025 Uncertain Significance: Hypogonadotropic hypogonadism 7 with or without anosmia 67,738,683(-) T/C
NM_000406.3(GNRHR):c.*1797A>G
THREE_PRIME_UTR
904026 Uncertain Significance: Hypogonadotropic hypogonadism 7 with or without anosmia 67,738,948(-) G/T
NM_000406.3(GNRHR):c.*1532C>A
THREE_PRIME_UTR
904027 Uncertain Significance: Hypogonadotropic hypogonadism 7 with or without anosmia 67,739,178(-) C/G
NM_000406.3(GNRHR):c.*1302G>C
THREE_PRIME_UTR
904090 Uncertain Significance: Hypogonadotropic hypogonadism 7 with or without anosmia 67,740,287(-) T/C
NM_000406.3(GNRHR):c.*193A>G
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GNRHR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for GNRHR Gene

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

SNP Genotyping and Copy Number Assays for research

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

(30) MalaCards diseases for GNRHR Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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:11994356, 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 variants 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

Additional Disease Information for GNRHR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 SC (Molecular and cellular endocrinology 1993) 2 3 4 22
  2. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. (PMID: 19489874) Trarbach EB … Latronico AC (Clinical endocrinology 2010) 3 22 40
  3. Genetic polymorphisms of the GNRH1 and GNRHR genes and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). (PMID: 19640273) Canzian F … Ziegler RG (BMC cancer 2009) 3 22 40
  4. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. (PMID: 18682503) Abreu AP … Latronico AC (The Journal of clinical endocrinology and metabolism 2008) 3 22 40
  5. Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. (PMID: 15546906) Sedlmeyer IL … Palmert MR (The Journal of clinical endocrinology and metabolism 2005) 3 22 40

Products for GNRHR Gene

Sources for GNRHR Gene