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    LHCGR luteinizing hormone/choriogonadotropin receptor [ Homo sapiens (human) ]

    Gene ID: 3973, updated on 27-Mar-2017
    Official Symbol
    LHCGRprovided by HGNC
    Official Full Name
    luteinizing hormone/choriogonadotropin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6585
    See related
    Ensembl:ENSG00000138039 MIM:152790; Vega:OTTHUMG00000129257
    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
    HHG; LHR; LCGR; LGR2; ULG5; LHRHR; LSH-R; LH/CGR; LH/CG-R
    Summary
    This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2p16.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (48686774..48755741, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48913913..48982880, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene STON1-GTF2A1L readthrough Neighboring gene stonin 1 Neighboring gene general transcription factor IIA subunit 1 like Neighboring gene tumor protein, translationally-controlled 1 pseudogene 11 Neighboring gene uncharacterized LOC105374594 Neighboring gene elongin B pseudogene 3 Neighboring gene C-terminal binding protein 2 pseudogene 5

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Gonadotropin-independent familial sexual precocity
    MedGen: C0342549 OMIM: 176410 GeneReviews: Not available
    Compare labs
    Leydig cell agenesis
    MedGen: C0266432 OMIM: 238320 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
    NHGRI GWA Catalog
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    NHGRI GWA Catalog
    Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
    NHGRI GWA Catalog
    • Arf6 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Arf6 signaling events, organism-specific biosystem
      Arf6 signaling events
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
      GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • Hormone ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Hormone ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to hormone ligands are annotated here. The hormones follicle-stimulating hormone (FSH), luteinizing hormone (LH), thyroid-stimulating hormone (TSH) and hu...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
    • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
      Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
    • Ovarian steroidogenesis, conserved biosystem (from KEGG)
      Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
    • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
      Peptide GPCRs, organism-specific biosystem
      Peptide GPCRs
    • Prolactin signaling pathway, organism-specific biosystem (from KEGG)
      Prolactin signaling pathway, organism-specific biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
    • Prolactin signaling pathway, conserved biosystem (from KEGG)
      Prolactin signaling pathway, conserved biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ41504

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    choriogonadotropin hormone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    choriogonadotropin hormone receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    follicle-stimulating hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    luteinizing hormone receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS
    Traceable Author Statement
    more info
    PubMed 
    activation of adenylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    activation of adenylate cyclase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    adenylate cyclase-activating G-protein coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular response to gonadotropin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to luteinizing hormone stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    follicle-stimulating hormone signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    hormone-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    luteinizing hormone signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    male genitalia development TAS
    Traceable Author Statement
    more info
    PubMed 
    male gonad development TAS
    Traceable Author Statement
    more info
    PubMed 
    phospholipase C-activating G-protein coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of adenylate cyclase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cAMP-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of inositol trisphosphate biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    primary ovarian follicle growth IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of osteoclast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    lutropin-choriogonadotropic hormone receptor
    Names
    hypergonadotropic hypogonadism
    lutropin/choriogonadotropin receptor

    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_008193.1 RefSeqGene

      Range
      5001..73968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000233.3NP_000224.2  lutropin-choriogonadotropic hormone receptor precursor

      See identical proteins and their annotated locations for NP_000224.2

      Status: REVIEWED

      Source sequence(s)
      AC073082, AC087816, BX101581, S57793
      Consensus CDS
      CCDS1842.1
      UniProtKB/Swiss-Prot
      P22888
      Related
      ENSP00000294954, OTTHUMP00000159570, ENST00000294954, OTTHUMT00000251364
      Conserved Domains (3) summary
      sd00033
      Location:5174
      LRR_RI; leucine-rich repeat [structural motif]
      pfam00001
      Location:376623
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam13306
      Location:62198
      LRR_5; Leucine rich repeats (6 copies)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      48686774..48755741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532828.1XP_011531130.1  lutropin-choriogonadotropic hormone receptor isoform X1

      Conserved Domains (3) summary
      sd00033
      Location:5174
      LRR_RI; leucine-rich repeat [structural motif]
      pfam00001
      Location:351598
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam13306
      Location:62195
      LRR_5; Leucine rich repeats (6 copies)
    2. XM_017004089.1XP_016859578.1  lutropin-choriogonadotropic hormone receptor isoform X2

    3. XM_011532831.1XP_011531133.1  lutropin-choriogonadotropic hormone receptor isoform X3

      Conserved Domains (1) summary
      pfam00001
      Location:164411
      7tm_1; 7 transmembrane receptor (rhodopsin family)
    4. XM_017004090.1XP_016859579.1  lutropin-choriogonadotropic hormone receptor isoform X3

      Conserved Domains (1) summary
      pfam00001
      Location:164411
      7tm_1; 7 transmembrane receptor (rhodopsin family)
    5. XM_005264309.3XP_005264366.1  lutropin-choriogonadotropic hormone receptor isoform X5

      See identical proteins and their annotated locations for XP_005264366.1

      Conserved Domains (1) summary
      pfam00001
      Location:57304
      7tm_1; 7 transmembrane receptor (rhodopsin family)
    6. XM_011532834.2XP_011531136.1  lutropin-choriogonadotropic hormone receptor isoform X5

      See identical proteins and their annotated locations for XP_011531136.1

      Conserved Domains (1) summary
      pfam00001
      Location:57304
      7tm_1; 7 transmembrane receptor (rhodopsin family)
    7. XM_006712015.3XP_006712078.1  lutropin-choriogonadotropic hormone receptor isoform X4

      See identical proteins and their annotated locations for XP_006712078.1

      Conserved Domains (1) summary
      pfam00001
      Location:66313
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      48844653..48913614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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