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

Gene ID: 3973, updated on 28-Jun-2020

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
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

Genomic context

See LHCGR in Genome Data Viewer
Location:
2p16.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (48686774..48755724, 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 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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
 
luteinizing hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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
PubMed 
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
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
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 
hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
luteinizing hormone signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male gonad development TAS
Traceable Author Statement
more info
PubMed 
ovarian follicle development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ovulation cycle process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipase C-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipase C-activating G protein-coupled receptor signaling pathway 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
 
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
PubMed 
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017004089.1XP_016859578.1  lutropin-choriogonadotropic hormone receptor isoform X1

  2. XM_011532831.1XP_011531133.1  lutropin-choriogonadotropic hormone receptor isoform X2

    Conserved Domains (1) summary
    pfam00001
    Location:164411
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  3. XM_017004090.1XP_016859579.1  lutropin-choriogonadotropic hormone receptor isoform X2

    Conserved Domains (1) summary
    pfam00001
    Location:164411
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  4. XM_005264309.3XP_005264366.1  lutropin-choriogonadotropic hormone receptor isoform X4

    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)
  5. XM_011532834.2XP_011531136.1  lutropin-choriogonadotropic hormone receptor isoform X4

    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)
  6. XM_006712015.3XP_006712078.1  lutropin-choriogonadotropic hormone receptor isoform X3

    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)
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