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LHCGR (luteinizing hormone/choriogonadotropin receptor)

Written2004-08Chon-Hwa Tsai-Morris, Maria L Dufau
Endocrinology Section, NICHD, NIH, Bldg. 49 Rm. 6A-36, Bethesda MD 20892-4510, USA
Updated2012-04Chon-Hwa Tsai-Morris, Maria L Dufau
Section on Molecular Endocrinology, Program in Developmental Endocrinology, Genetics, NICHD, National Institutes of Health, Bethesda, MD 20892-4510, USA

(Note : for Links provided by Atlas : click)


hypergonadotropic hypogonadism
Alias_symbol (synonym)LHR
Other aliasHHG 2
LocusID (NCBI) 3973
Atlas_Id 288
Location 2p16.3  [Link to chromosome band 2p16]
Location_base_pair Starts at 48913913 and ends at 48982880 bp from pter ( according to hg19-Feb_2009)  [Mapping LHCGR.png]
Note The LHR belongs to the glycoprotein hormone receptor subfamily of the G protein-coupled receptor family (GPCR), with leucine rich repeat motifs, (Minegishi et al., 1990; Jia et al., 1991).


  A: Human LHR gene organization. B: 5' flanking regulatory domains and the 176 bp promoter with its functional domains (Geng et al., 1999; Dufau and Tsai-Morris, 2007). B-I Promoter associated transcription factor Sp1 bound to cognate DNA sites, Sp1-I and Sp1-II, constitutively (Geng et al., 1999). Co-repressor complex (HDAC/mSin3A) associates with Sp1-I (Zhang et al., 2000; Zhang et al., 2001; Zhang et al., 2002; Zhang et al., 2003; Zhang et al., 2004). Upstream inhibitory domain (ERE-DR Motif) that bind orphan receptors EAR2 and EAR3, inhibitory and TR4, stimulatory (arrows). B-II, Histone deacetylase inhibitor (TSA)-induced LHR transcriptional activation through chromatin changes cause release of cell specific phosphatases (PP1, PP2A) (Zhang et al 2008). This permits phosphorylation of Sp1 at S641 via PI3K/PKCzeta (Zhang, 2006), and the release of repressor p107 and corepressor HDAC/mSin3A (Zhang et al., 2008; Dufau et al., 2010). Recruitment of Positive Coactivator4 PC4 induced by changes in chromatin structure is required for transcriptional activation that follows recruitment of TFIIB and Pol II (Liao et al., 2008; Liao et al., 2011). PC4 might function as a linker to bridge Sp1 to PIC through a not-yet identified protein(s) (red circle). Triangle: multiple transcriptional start sites. PA: polyadenylation sites. Open arrow, up: activation, down: inhibition. ERE: estrogen response element. DR: direct repeat. OR: orphan receptor. Sp1 I, Sp1 II: Sp1 sites. PIC: preinitiation complex.
Description Human LHR gene is encoded by a single copy gene. The human LHR gene (> 80 Kb) consists of 11 coding exons separated by 10 introns (Atger et al., 1995). At least seven alternatively spliced variants of the hLHR were reported (deletion of exon 8 or 9 or 10, or partial deletion of exon 11 combined with or without deletion of exon 9, and insertion of exon 6A) (Laue et al., 1996; Gromoll et al., 2000; Madhra et al., 2004; Kossack et al., 2008).
Transcription Multiple LHR mRNA transcriptional start sites are located within the -176 bp TATA-less 5' flanking promoter domain (Geng et al., 1999; Dufau and Tsai-Morris, 2007). Additional upstream transcriptional start sites (> -176 bp) were identified in human testicular mRNA and human choriocarcinoma JAR cell. EREhs (-161 to -171 bp) and upstream sequences (-177 to -2056 bp) are inhibitory. Activation of the human LHR promoter through Sp1 and Sp3 factors at Sp1 sites is negatively regulated by cross-talk among the transcription factors EAR3/COUP-TFI, Sp1, TFIIB, and independently by histone deacetylase-mSin3A co-repressor complex, p107 repressor at the Sp1 I site (review: Zhang and Dufau, 2004; Dufau and Tsai-Morris, 2007; Dufau et al., 2010).
Pseudogene No known pseudogenes.


  Schematic representation of human LHR variants, as deduced from the alternative splicing of the transcripts. Arrow-head: LQ insertion. Exon 6A resides in intron 6, transcripts are terminated by a poly A tail (terminal) or via internal splice sites to produce a 150 bp (short) or 207 bp (long) internal exon and continue to exon 7-11 (Kossack et al., 2008). In all cases a truncated LHR protein of 209 aa is generated. Arrow: Stop codon.
Description The cDNA for the human LHR encodes 699 amino acids (Minegishi et al., 1990; Jia et al., 1991). The receptor is composed of two functional units: the extracellular hormone-binding domain and the seven-membrane transmembrane/cytoplasmic module, which is the anchoring unit that transduces the signal initiated in the extracellular domain and couples to G proteins. The large extracellular domain binds LH and hCG with high affinity.
Expression LHR is predominantly expressed in gonads. The LHR has also been identified in several non-gonadal tissues (review, Rao, 2001), including human nonpregnant uterus, placenta (Reshef et al., 1990), fallopian tubes (Lei et al., 1993), uterine vessels, (Toth et al., 1994), umbilical cord (Rao et al., 1993), brain (Lei et al., 1993), breast (Meduri et al., 1997; Carlson et al., 2004), and adrenal gland (Lehmann et al., 1975).
Localisation Predominantly localized in the cell membrane.
Function The LHR mediates gonadotropin signaling and triggers intracellular responses that participate in gonadal maturation and function, as well as in the regulation of steroidogenesis and gametogenesis (review, Richards et al., 1988; Dufau, 1998; Dufau and Tsai-Morris, 2007). Luteinizing hormone through its surface receptors on the Leydig cell maintains general metabolic processes and steroidogenic enzymes to regulate the production of androgens. In the ovary, LH promotes follicular development, at stages beyond early antral follicles including the formation of preovulatory follicles and corpora lutea. Target disruption of LH receptor in the mouse revealed a normal prenatal development and lack of postnatal sexual development (Lei et al., 2001; Zhang et al., 2001). This indicated that LH/LHR action in male rodents is not required or can be compensated by other hormone(s) or factors during fetal life which is in sharp contrast with the situation in the human. The major changes in sexual development observed after birth in the mouse included significant inhibition of testis growth and descent and of sex accessory organs. Testosterone could partially restore spermatogenesis and fertility (Pakarainen et al., 2005; Yuan et al., 2006).
Homology The percent identity below represents identity using Global pairwise alignment function (GAP).
M. musculus: 83,2
R. Norvegicus: 85,2
D. Melanogaster: 40,1
A. gambiae: 39,7
C. elegans: 30,7


Note Polymorphisms were detected in exon 1, 4, 8, 10 and 11. Nucleotides insertion / deletion, single nucleotide mutation were detected in exons 1, 5, 7, 8, 10 and 11. Deletions of exon 8 or 9 or 10 (splice variants) were also detected (See reviews Themmen and Huhtaniemi, 2000; Dufau and Tsai-Morris, 2007 and Segaloff, 2009). Mutations were also found in the unique cryptic exon 6A (Kossack et al., 2008).
Polymorphism: Without a known effect- missense mutation: R124Q, N291S, N312S. Silent mutation: L204, D355.
Activating mutations: Most of these mutations are located in the sixth TM domain (TM6) and C terminal region of the third intracellular loop. Mutations also occur in other transmembrane helices except TM4 and TM7 (see figure).
TM1: L368P, A373V; TM2: M398T; TM3: L457R; TM5: I542L; ICL3: D564G, A568V; TM6: M571I, A572V, I575L, T577I, D578G/Y/H/E, C581R. TM: transmembrane., ICL: intracellular loop.
Inactivating mutations: I114F, C131R, V144F, F194V, C343S, E354K, I374T, T392I, W491X, L502P, C543R, C545X, R554X, A589X, A593P, Y612X, S616Y and I625K. Deletion - ΔL608/V609, aa 203-227 (exon 8), aa 228-289 (exon 9), aa 290-316 (exon 10), ΔY317-S324 (exon 11). Insertion: aa18 - LLKLLLLLQLQ. A cryptic exon 6A (resides in intron 6) with mutations (A557C or G558C).
  EC: Extracellular domain. TM: Transmembrane domain. IC: Intracellular domain. Triangle box: the putative signal peptide. Vertical lines indicate exons. Normal amino acid residue (white circle). X: Stop. Activating mutations noted as green in familial male precocious puberty (FMPP)-autosomal dominant and/or sporadic male-limited precocious puberty (SMPP) or other; inactivating mutations in Leydig cells hypoplasia (LCH) noted in yellow. Polymorphism noted in blue. Underlined: N-glycosylation sites.

Implicated in

Disease Review: Themmen and Huhtaniemi, 2000; Dufau and Tsai-Morris, 2007; Segaloff, 2009. Refer to these reviews for individual mutations.
Entity Breast cancer
Note The 18LQ insertion associated with adverse outcome in breast cancer patients could result from estrogen exposure in female carriers via increased LHR activity (Powell et al., 2003; Piersma et al., 2006).
Prognosis Mutations may be linked to breast cancer prognosis.
Entity Familial male precocious puberty (FMPP) and sporadic male-limited precocious puberty (SMPP)
Note FMPP is a gonadotropin independent precocious puberty, also known as testotoxicosis characterized by premature Leydig cell differentiation, hyperplasia and early spermatogenesis. It presents a clinical phenotype in the heterozygous form of LHR activating mutations. Signs of puberty are found at 1 to 4 yr old of age with elevated androgen production due to LHR mutations in transmembranes 1, 2, 3, 5 and 6 (see mutation section-activating mutation). Those mutants are constitutively active. Mutations cause elevated basal levels of cAMP compared to WT in cells transfected with mutated LHR construct. A similar phenotype is observed in sporadic cases of this disorder. Association of FMPP and SMPP with development of testicular tumors are due to a missense mutation (D578G) which is the most common form of the condition in USA. Somatic mutation of the LHR (D578H) was found in the patients with Leydig cell adenoma and no history of FMPP.
Entity Male pseudohermaphroditism or Leydig cell hypoplasia (LCH) with various degree of hypogonadism severity
Note There are two types of LCH associated with inactivating mutation of LHR. Clinical phenotype expressed in homozygous (most cases) or compound heterozygous (few cases) is caused by deletion, insertion, truncation or missense mutation (see mutation section) in extracellular or transmembrane regions of the LHR. Also, a genomic defect with mutation in the cryptic exon 6A (residing in the intron 6) could lead to LCH. Type I LCH with 46XY disorder of sex development reveals a complete disruption of LH/hCG signaling in male patients characterized by a female external phenotype with a blind-ending vagina and cryptochidism. Type II LCH is characterized by reduced response to LH/hCG signaling, micropenis and/or hypospadias. 46XX siblings (carrying similar inactivating mutation of LHR) of affected 46XY individuals are infertile with normal female external genitalia but enlarged cystic ovaries and primary or secondary amenorrhea. Elevated serum LH is shown in both genders of patients. The underlining mechanism of the LCH caused by inactivating mutation of LHR might be associated with misfolding, reduced LH/hCG binding affinity and/or intracellular retention of the mutant LHR.


Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5' non-coding regions.
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PMID 7556872
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Carlson HE, Kane P, Lei ZM, Li X, Rao CV.
J Clin Endocrinol Metab. 2004 Aug;89(8):4119-23.
PMID 15292356
Participation of signaling pathways in the derepression of luteinizing hormone receptor transcription.
Dufau ML, Liao M, Zhang Y.
Mol Cell Endocrinol. 2010 Jan 27;314(2):221-7. Epub 2009 May 21. (REVIEW)
PMID 19464346
The luteinizing hormone receptor.
Dufau ML.
Annu Rev Physiol. 1998;60:461-96. (REVIEW)
PMID 9558473
The human luteinizing hormone receptor gene promoter: activation by Sp1 and Sp3 and inhibitory regulation.
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Biochem Biophys Res Commun. 1999 Sep 24;263(2):366-71.
PMID 10491299
Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotropin and LH.
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PMID 10852464
Expression of human luteinizing hormone (LH) receptor: interaction with LH and chorionic gonadotropin from human but not equine, rat, and ovine species.
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Mol Endocrinol. 1991 Jun;5(6):759-68.
PMID 1922095
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PLoS Med. 2008 Apr 22;5(4):e88.
PMID 18433292
Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.
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Mol Endocrinol. 1996 Aug;10(8):987-97.
PMID 8843415
HCG + ACTH stimulation of in vitro dehydroepiandrosterone production in human fetal adrenals from precursor cholesterol and delta5-pregnenolone.
Lehmann WD, Lauritzen C.
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PMID 178853
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PMID 11145749
Coactivator function of positive cofactor 4 (PC4) in Sp1-directed luteinizing hormone receptor (LHR) gene transcription.
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J Biol Chem. 2011 Mar 4;286(9):7681-91. Epub 2010 Dec 30.
PMID 21193408
Alternative splicing of the human luteal LH receptor during luteolysis and maternal recognition of pregnancy.
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Mol Hum Reprod. 2004 Aug;10(8):599-603. Epub 2004 May 28.
PMID 15169923
Luteinizing hormone/human chorionic gonadotropin receptors in breast cancer.
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PMID 2244890
Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset.
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PMID 12679452
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Rao CV.
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PMID 11394207
The presence of gonadotropin receptors in nonpregnant human uterus, human placenta, fetal membranes, and decidua.
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This paper should be referenced as such :
Tsai-Morris, CH ; Dufau, ML
LHCGR (luteinizing hormone/choriogonadotropin receptor)
Atlas Genet Cytogenet Oncol Haematol. 2012;16(9):649-654.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Tsai-Morris, CH ; Dufau, ML. LHCGR (luteinizing hormone/choriogonadotropin receptor). Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):282-286.

External links

HGNC (Hugo)LHCGR   6585
Entrez_Gene (NCBI)LHCGR  3973  luteinizing hormone/choriogonadotropin receptor
AliasesHHG; LCGR; LGR2; LH/CG-R; 
GeneCards (Weizmann)LHCGR
Ensembl hg19 (Hinxton)ENSG00000138039 [Gene_View]  chr2:48913913-48982880 [Contig_View]  LHCGR [Vega]
Ensembl hg38 (Hinxton)ENSG00000138039 [Gene_View]  chr2:48913913-48982880 [Contig_View]  LHCGR [Vega]
ICGC DataPortalENSG00000138039
Genatlas (Paris)LHCGR
Genetics Home Reference (NIH)LHCGR
Genomic and cartography
GoldenPath hg19 (UCSC)LHCGR  -     chr2:48913913-48982880 -  2p21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LHCGR  -     2p21   [Description]    (hg38-Dec_2013)
EnsemblLHCGR - 2p21 [CytoView hg19]  LHCGR - 2p21 [CytoView hg38]
Mapping of homologs : NCBILHCGR [Mapview hg19]  LHCGR [Mapview hg38]
OMIM152790   176410   238320   
Gene and transcription
Genbank (Entrez)AK123498 BC156303 BC157028 BX101581 DA376746
RefSeq transcript (Entrez)NM_000233
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_008193 NG_033050 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)LHCGR
Cluster EST : UnigeneHs.468490 [ NCBI ]
CGAP (NCI)Hs.468490
Alternative Splicing GalleryENSG00000138039
Gene Expression Viewer (FireBrowse)LHCGR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3973
GTEX Portal (Tissue expression)LHCGR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22888   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22888  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22888
Splice isoforms : SwissVarP22888
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)GPCR_Rhodpsn    GPCR_Rhodpsn_7TM    Gphrmn_rcpt_fam    L_dom-like    LRR_5    LRRNT    LSH_rcpt   
Domain families : Pfam (Sanger)7tm_1 (PF00001)    LRR_5 (PF13306)   
Domain families : Pfam (NCBI)pfam00001    pfam13306   
Domain families : Smart (EMBL)LRRNT (SM00013)  
Conserved Domain (NCBI)LHCGR
DMDM Disease mutations3973
Blocks (Seattle)LHCGR
PDB (SRS)1LUT    1XUL   
PDB (PDBSum)1LUT    1XUL   
PDB (IMB)1LUT    1XUL   
Structural Biology KnowledgeBase1LUT    1XUL   
SCOP (Structural Classification of Proteins)1LUT    1XUL   
CATH (Classification of proteins structures)1LUT    1XUL   
Human Protein AtlasENSG00000138039
Peptide AtlasP22888
IPIIPI00299615   IPI00414187   IPI00893780   IPI00893799   IPI00893922   IPI00894193   
Protein Interaction databases
IntAct (EBI)P22888
Ontologies - Pathways
Ontology : AmiGOluteinizing hormone receptor activity  endosome  plasma membrane  integral component of plasma membrane  G-protein coupled receptor signaling pathway  G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  adenylate cyclase-activating G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  activation of adenylate cyclase activity  phospholipase C-activating G-protein coupled receptor signaling pathway  phospholipase C-activating G-protein coupled receptor signaling pathway  G-protein coupled peptide receptor activity  male gonad development  hormone-mediated signaling pathway  ovulation cycle process  male genitalia development  positive regulation of inositol trisphosphate biosynthetic process  choriogonadotropin hormone receptor activity  choriogonadotropin hormone binding  luteinizing hormone signaling pathway  luteinizing hormone signaling pathway  positive regulation of cAMP-mediated signaling  cognition  cellular response to gonadotropin stimulus  
Ontology : EGO-EBIluteinizing hormone receptor activity  endosome  plasma membrane  integral component of plasma membrane  G-protein coupled receptor signaling pathway  G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  adenylate cyclase-activating G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  activation of adenylate cyclase activity  phospholipase C-activating G-protein coupled receptor signaling pathway  phospholipase C-activating G-protein coupled receptor signaling pathway  G-protein coupled peptide receptor activity  male gonad development  hormone-mediated signaling pathway  ovulation cycle process  male genitalia development  positive regulation of inositol trisphosphate biosynthetic process  choriogonadotropin hormone receptor activity  choriogonadotropin hormone binding  luteinizing hormone signaling pathway  luteinizing hormone signaling pathway  positive regulation of cAMP-mediated signaling  cognition  cellular response to gonadotropin stimulus  
Pathways : KEGGCalcium signaling pathway    Neuroactive ligand-receptor interaction    Ovarian steroidogenesis    Prolactin signaling pathway   
REACTOMEP22888 [protein]
REACTOME Pathways375281 [pathway]   418555 [pathway]   
Atlas of Cancer Signalling NetworkLHCGR
Wikipedia pathwaysLHCGR
Orthology - Evolution
GeneTree (enSembl)ENSG00000138039
Phylogenetic Trees/Animal Genes : TreeFamLHCGR
Homologs : HomoloGeneLHCGR
Homology/Alignments : Family Browser (UCSC)LHCGR
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLHCGR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LHCGR
Exome Variant ServerLHCGR
ExAC (Exome Aggregation Consortium)LHCGR (select the gene name)
Genetic variants : HAPMAP3973
Genomic Variants (DGV)LHCGR [DGVbeta]
DECIPHER (Syndromes)2:48913913-48982880  ENSG00000138039
CONAN: Copy Number AnalysisLHCGR 
ICGC Data PortalLHCGR 
TCGA Data PortalLHCGR 
Broad Tumor PortalLHCGR
OASIS PortalLHCGR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLHCGR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLHCGR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LHCGR
DgiDB (Drug Gene Interaction Database)LHCGR
DoCM (Curated mutations)LHCGR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LHCGR (select a term)
NCG5 (London)LHCGR
Cancer3DLHCGR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM152790    176410    238320   
Orphanet1225    12835    12834   
Genetic Testing Registry LHCGR
NextProtP22888 [Medical]
Huge Navigator LHCGR [HugePedia]
snp3D : Map Gene to Disease3973
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3973
Chemical/Pharm GKB GenePA30357
Clinical trialLHCGR
canSAR (ICR)LHCGR (select the gene name)
PubMed200 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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