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    GNRHR2 gonadotropin releasing hormone receptor 2 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 114814, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GNRHR2provided by HGNC
    Official Full Name
    gonadotropin releasing hormone receptor 2 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:16341
    See related
    Ensembl:ENSG00000293505 MIM:612875; AllianceGenome:HGNC:16341
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GNRHR2P; GnRH-II-R
    Summary
    In non-hominoid primates and non-mammalian vertebrates, the gonadotropin releasing hormone 2 receptor gene (GnRHR2) encodes a seven-transmembrane G-protein coupled receptor. However, in human, the corresponding reading frame contains a premature stop codon, which has been suggested to encode a selenocysteine residue, but there is no solid evidence for selenocysteine incorporation (PMID: 12538601). It appears that the human GnRHR2 transcription occurs but the gene does not likely produce a functional multi-transmembrane protein. A non-transcribed pseudogene of GnRHR2 is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in brain (RPKM 13.0), kidney (RPKM 11.5) and 25 other tissues See more
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    Genomic context

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    See GNRHR2 in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145919013..145925341)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (145035832..145042160)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145509752..145516076, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene integrin subunit alpha 10 Neighboring gene peroxisomal biogenesis factor 11 beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145516673-145517219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:145516125-145516672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1617 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 Neighboring gene RNA binding motif protein 8A Neighboring gene LIX1L antisense RNA 1 Neighboring gene limb and CNS expressed 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1270 Neighboring gene conserved acetylation island sequence C12 enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145473321-145474156 Neighboring gene Sharpr-MPRA regulatory region 4010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1621 Neighboring gene ankyrin repeat domain 34A

    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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    Related articles in PubMed

    1. A novel human GnRH receptor homolog gene: abundant and wide tissue distribution of the antisense transcript. Millar R, et al. J Endocrinol, 1999 Jul. PMID 10396028
    2. A transcriptionally active human type II gonadotropin-releasing hormone receptor gene homolog overlaps two genes in the antisense orientation on chromosome 1q.12. Morgan K, et al. Endocrinology, 2003 Feb. PMID 12538601
    3. GnRH-II receptor-like antigenicity in human placenta and in cancers of the human reproductive organs. Eicke N, et al. Eur J Endocrinol, 2005 Oct. PMID 16189182
    4. Comparative genomics of the endocrine systems in humans and chimpanzees with special reference to GNRH2 and UCN2 and their receptors. Ikemoto T, et al. Genomics, 2006 Apr. PMID 16406723
    5. Human myometrium and leiomyomas express gonadotropin-releasing hormone 2 and gonadotropin-releasing hormone 2 receptor. Parker JD, et al. Fertil Steril, 2007 Jul. PMID 17296196

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of gonadotropin-releasing hormone 2 and its receptor in human reproductive cancers.
      Title: Role of gonadotropin-releasing hormone 2 and its receptor in human reproductive cancers.
    2. Data indicate that GnRH-II antagonists seem to be suitable drugs for an efficacious and less-toxic endocrine therapy for breast cancers, including triple-negative breast cancers.
      Title: Gonadotropin-releasing hormone type II antagonist induces apoptosis in MCF-7 and triple-negative MDA-MB-231 human breast cancer cells in vitro and in vivo.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
    4. Expression of GnRH2 protein and receptor (GnRHR2) is confirmed in both leiomyoma and patient-matched myometrium.
      Title: Human myometrium and leiomyomas express gonadotropin-releasing hormone 2 and gonadotropin-releasing hormone 2 receptor.
    5. the GnRHR-II-reliquum plays a modulatory role in GnRHR-I expression
      Title: Inhibition of human type i gonadotropin-releasing hormone receptor (GnRHR) function by expression of a human type II GnRHR gene fragment.
    6. Immune histological sections of human placenta and human endometrial, ovarian, and prostate cancers using rabbit anti-human GnRH-II receptor antiserum showed GnRH-II receptor-like staining.
      Title: GnRH-II receptor-like antigenicity in human placenta and in cancers of the human reproductive organs.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • GnRH receptor II 5TM
    • Type II GnRH receptor
    • gonadotropin-releasing hormone (type 2) receptor 2, pseudogene

    Clone Names

    • FLJ17778

    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
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    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.

    RNA

    1. NR_002328.4 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AY077708, AY081843
      Related
      ENST00000312753.9

    2. NR_104033.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal segment in the 5' region, compared to variant 1.
      Source sequence(s)
      AY077708, AY081843
      Related
      ENST00000361928.2

    3. NR_104034.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two exons but has an alternate 3' terminal exon, compared to variant 1.
      Source sequence(s)
      DQ266410

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      145919013..145925341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      145035832..145042160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_057163.2: Suppressed sequence

      Description
      NM_057163.2: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NM_206994.1: Suppressed sequence

      Description
      NM_206994.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96P88.4 GenPept UniProtKB/Swiss-Prot:Q96P88

    Gene LinkOut

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

    Chemical Information
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    Research Materials