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    GNRHR gonadotropin releasing hormone receptor [ Homo sapiens (human) ]

    Gene ID: 2798, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GNRHRprovided by HGNC
    Official Full Name
    gonadotropin releasing hormone receptorprovided by HGNC
    Primary source
    HGNC:HGNC:4421
    See related
    Ensembl:ENSG00000109163 MIM:138850; AllianceGenome:HGNC:4421
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HH7; GRHR; LRHR; LHRHR; GNRHR1
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See GNRHR in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (67737118..67754388, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71180228..71197499, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68602836..68620106, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UBA6 divergent transcript Neighboring gene dynein, axonemal, assembly factor 5 pseudodgene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:68587217-68588416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:68588737-68589525 Neighboring gene tubulin alpha 4a pseudogene Neighboring gene small nucleolar RNA SNORA62/SNORA6 family Neighboring gene transmembrane serine protease 11C, pseudogene Neighboring gene uncharacterized LOC102724780

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AXL receptor tyrosine kinase modulates gonadotropin-releasing hormone receptor signaling.
      Title: AXL receptor tyrosine kinase modulates gonadotropin-releasing hormone receptor signaling.
    2. GnRH receptor mediates lipid storage in female adipocytes via AMPK pathway.
      Title: GnRH receptor mediates lipid storage in female adipocytes via AMPK pathway.
    3. Immunohistochemical Expression of LHRH Receptor in Different Compartments of Female Genital Tract in Patients With Endometrial Cancer.
      Title: Immunohistochemical Expression of LHRH Receptor in Different Compartments of Female Genital Tract in Patients With Endometrial Cancer.
    4. Gonadotropin-releasing hormone receptor inhibits triple-negative breast cancer proliferation and metastasis.
      Title: Gonadotropin-releasing hormone receptor inhibits triple-negative breast cancer proliferation and metastasis.
    5. Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
      Title: Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
    6. [Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].
      Title: [Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].
    7. Increased testosterone and proinflammatory cytokines in patients with polycystic ovary syndrome correlate with elevated GnRH receptor autoantibody activity assessed by a fluorescence resonance energy transfer-based bioassay.
      Title: Increased testosterone and proinflammatory cytokines in patients with polycystic ovary syndrome correlate with elevated GnRH receptor autoantibody activity assessed by a fluorescence resonance energy transfer-based bioassay.
    8. Association between GnRH Receptor Polymorphisms and Luteinizing Hormone Levels for Low Ovarian Reserve Infertile Women.
      Title: Association between GnRH Receptor Polymorphisms and Luteinizing Hormone Levels for Low Ovarian Reserve Infertile Women.
    9. Expression of Luteinizing Hormone-Releasing Hormone (LHRH) and Type-I LHRH Receptor in Transitional Cell Carcinoma Type of Human Bladder Cancer.
      Title: Expression of Luteinizing Hormone-Releasing Hormone (LHRH) and Type-I LHRH Receptor in Transitional Cell Carcinoma Type of Human Bladder Cancer.
    10. Cancer stem cell and mesenchymal cell cooperative actions in metastasis progression and hormone resistance in prostate cancer: Potential role of androgen and gonadotropinreleasing hormone receptors (Review).
      Title: Cancer stem cell and mesenchymal cell cooperative actions in metastasis progression and hormone resistance in prostate cancer: Potential role of androgen and gonadotropin‑releasing hormone receptors (Review).
    Submit: New GeneRIF Correction See all GeneRIFs (119)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gonadotropin-releasing hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to gonadotropin-releasing hormone IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gonadotropin secretion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    gonadotropin-releasing hormone receptor
    Names
    gnRH receptor
    gnRH-R
    gonadotropin-releasing hormone (type 1) receptor 1
    leutinizing hormone releasing horomone receptor
    leutinizing-releasing hormone receptor
    luliberin receptor
    type I GnRH receptor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009293.1 RefSeqGene

      Range
      6699..23969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000406.3 → NP_000397.1  gonadotropin-releasing hormone receptor isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC079880
      Consensus CDS
      CCDS3517.1
      UniProtKB/Swiss-Prot
      O75793, P30968, Q14D13, Q92644
      Related
      ENSP00000226413.5, ENST00000226413.5
      Conserved Domains (2) summary
      cd14964
      Location:38 → 67
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:36 → 328
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    2. NM_001012763.2 → NP_001012781.1  gonadotropin-releasing hormone receptor isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1. Isoform 2 may act as an inhibitor of gonadotropin-releasing hormone receptor signaling.
      Source sequence(s)
      AC079880
      Consensus CDS
      CCDS47064.1
      UniProtKB/Swiss-Prot
      P30968
      Related
      ENSP00000397561.2, ENST00000420975.2
      Conserved Domains (1) summary
      pfam00001
      Location:76 → 175
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      67737118..67754388 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      71180228..71197499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30968.1 GenPept UniProtKB/Swiss-Prot:P30968

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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