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

Gene ID: 3973, updated on 19-Jul-2014
Official Symbol
LHCGRprovided by HGNC
Official Full Name
luteinizing hormone/choriogonadotropin receptorprovided by HGNC
Primary source
HGNC:6585
See related
Ensembl:ENSG00000138039; HPRD:01073; 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]
See LHCGR in Epigenomics, MapViewer
Location:
2p21
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 translationally-controlled tumor protein-like Neighboring gene general transcription factor IIA, 1-like Neighboring gene transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 3 Neighboring gene C-terminal binding protein 2 pseudogene 5

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.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
  • 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
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 IEA
Inferred from Electronic Annotation
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to gonadotropin stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cognition IMP
Inferred from Mutant Phenotype
more info
 
development of secondary male sexual characteristics IEA
Inferred from Electronic Annotation
more info
 
luteinizing hormone signaling pathway IEA
Inferred from Electronic Annotation
more info
 
male genitalia development TAS
Traceable Author Statement
more info
PubMed 
male gonad development TAS
Traceable Author Statement
more info
PubMed 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
phospholipase C-activating G-protein coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
regulation of steroid hormone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
seminiferous tubule development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
uterus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endosome TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
lutropin-choriogonadotropic hormone receptor
Names
lutropin-choriogonadotropic hormone receptor
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 

    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 proteins identical to 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 (2) summary
    pfam00001
    Location:382623
    Blast Score: 353
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13306
    Location:62198
    Blast Score: 133
    LRR_5; Leucine rich repeats (6 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

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

mRNA and Protein(s)

  1. XM_005264309.1XP_005264366.1  

    Conserved Domains (1) summary
    pfam00001
    Location:63304
    Blast Score: 319
    7tm_1; 7 transmembrane receptor (rhodopsin family)
  2. XM_006712015.1XP_006712078.1  

    Conserved Domains (1) summary
    pfam00001
    Location:72313
    Blast Score: 322
    7tm_1; 7 transmembrane receptor (rhodopsin family)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    48647284..48716442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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