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

    Gene ID: 3973, updated on 16-Apr-2024

    Summary

    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; AllianceGenome:HGNC:6585
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LHCGR in Genome Data Viewer
    Location:
    2p16.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (48686774..48755724, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (48682806..48751772, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48913913..48982863, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene STON1-GTF2A1L readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:48757286-48757833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:48787383-48787921 Neighboring gene stonin 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:48812672-48813306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:48841993-48842496 Neighboring gene general transcription factor IIA subunit 1 like Neighboring gene TPT1 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:48982421-48983197 Neighboring gene uncharacterized LOC105374594 Neighboring gene elongin B pseudogene 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:49067851-49069050 Neighboring gene CTBP2 pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ41504

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables G protein-coupled peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables choriogonadotropin hormone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables choriogonadotropin hormone receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables luteinizing hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables luteinizing hormone receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in activation of adenylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activation of adenylate cyclase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in arachidonic acid secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to gonadotropin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to luteinizing hormone stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in development of secondary male sexual characteristics IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hormone-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in luteinizing hormone signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in luteinizing hormone signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in male genitalia development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in male gonad development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ovarian follicle development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ovulation cycle process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of calcium ion transport into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of inositol trisphosphate biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein targeting to lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of steroid hormone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in seminiferous tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in uterus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    lutropin-choriogonadotropic hormone receptor
    Names
    hypergonadotropic hypogonadism
    lutropin/choriogonadotropin receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008193.2 RefSeqGene

      Range
      5018..73968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000233.4NP_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, Q14751, Q15996, Q9UEW9
      UniProtKB/TrEMBL
      E7ENI1
      Related
      ENSP00000294954.6, ENST00000294954.12
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      48686774..48755724 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444293.1XP_047300249.1  lutropin-choriogonadotropic hormone receptor isoform X3

    2. XM_047444291.1XP_047300247.1  lutropin-choriogonadotropic hormone receptor isoform X1

    3. XM_047444292.1XP_047300248.1  lutropin-choriogonadotropic hormone receptor isoform X2

    4. XM_017004090.1XP_016859579.1  lutropin-choriogonadotropic hormone receptor isoform X4

      UniProtKB/TrEMBL
      Q53S49
      Conserved Domains (1) summary
      cd15359
      Location:148422
      7tmA_LHCGR; luteinizing hormone-choriogonadotropin receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
    5. XM_011532834.3XP_011531136.1  lutropin-choriogonadotropic hormone receptor isoform X6

      See identical proteins and their annotated locations for XP_011531136.1

      UniProtKB/TrEMBL
      Q53S49
      Conserved Domains (1) summary
      pfam00001
      Location:57304
      7tm_1; 7 transmembrane receptor (rhodopsin family)
    6. XM_006712015.4XP_006712078.1  lutropin-choriogonadotropic hormone receptor isoform X5

      See identical proteins and their annotated locations for XP_006712078.1

      UniProtKB/TrEMBL
      Q53S49
      Conserved Domains (1) summary
      pfam00001
      Location:66313
      7tm_1; 7 transmembrane receptor (rhodopsin family)
    7. XM_005264309.4XP_005264366.1  lutropin-choriogonadotropic hormone receptor isoform X6

      See identical proteins and their annotated locations for XP_005264366.1

      UniProtKB/TrEMBL
      Q53S49
      Conserved Domains (1) summary
      pfam00001
      Location:57304
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      48682806..48751772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342012.1XP_054197987.1  lutropin-choriogonadotropic hormone receptor isoform X3

    2. XM_054342010.1XP_054197985.1  lutropin-choriogonadotropic hormone receptor isoform X1

    3. XM_054342011.1XP_054197986.1  lutropin-choriogonadotropic hormone receptor isoform X2

    4. XM_054342013.1XP_054197988.1  lutropin-choriogonadotropic hormone receptor isoform X4

    5. XM_054342015.1XP_054197990.1  lutropin-choriogonadotropic hormone receptor isoform X6

    6. XM_054342014.1XP_054197989.1  lutropin-choriogonadotropic hormone receptor isoform X5

    7. XM_054342016.1XP_054197991.1  lutropin-choriogonadotropic hormone receptor isoform X6