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LHCGR Gene

protein-coding   GIFtS: 69
GCID: GC02M048862

Luteinizing Hormone/Choriogonadotropin Receptor

(Previous name: hypergonadotropic hypogonadism)
(Previous symbol: HHG)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Luteinizing Hormone/Choriogonadotropin Receptor1 2     LHRHR2 3
LCGR2 3 5     LSH-R2 3
LHR2 3 5     LH/CGR2
HHG1 2     ULG52
Hypergonadotropic Hypogonadism1 2     Lutropin-Choriogonadotropic Hormone Receptor2
LGR22 3     Lutropin/Choriogonadotropin Receptor2
LH/CG-R2 3     Luteinizing Hormone Receptor3

External Ids:    HGNC: 65851   Entrez Gene: 39732   Ensembl: ENSG000001380397   OMIM: 1527905   UniProtKB: P228883   

Export aliases for LHCGR gene to outside databases

Previous GC identifers: GC02M048944 GC02M049082 GC02M048888 GC02M048825 GC02M048647


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LHCGR Gene:
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)

GeneCards Summary for LHCGR Gene:
LHCGR (luteinizing hormone/choriogonadotropin receptor) is a protein-coding gene. Diseases associated with LHCGR include luteinizing hormone resistance, female, and hypogonadism. GO annotations related to this gene include choriogonadotropin hormone binding and luteinizing hormone receptor activity. An important paralog of this gene is LGR5.

UniProtKB/Swiss-Prot: LSHR_HUMAN, P22888
Function: Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G
proteins which activate adenylate cyclase

Gene Wiki entry for LHCGR (Luteinizing hormone/choriogonadotropin receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LHCGR gene promoter:
         GR   Sp1   GR-beta   FOXJ2 (long isoform)   GR-alpha   FOXJ2   E4BP4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLHCGR promoter sequence
   Search Chromatin IP Primers for LHCGR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LHCGR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p16.3   HGNC cytogenetic band: 2p21

LHCGR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LHCGR gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M048862:  view genomic region     (about GC identifiers)

Start:
48,859,428 bp from pter      End:
48,982,880 bp from pter
Size:
123,453 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LSHR_HUMAN, P22888 (See protein sequence)
Recommended Name: Lutropin-choriogonadotropic hormone receptor precursor  
Size: 699 amino acids; 78643 Da
2 PDB 3D structures from and Proteopedia for LHCGR:
1LUT (3D)        1XUL (3D)    
Secondary accessions: Q14751 Q15996 Q9UEW9
Alternative splicing: 2 isoforms:  P22888-1   P22888-2   

Explore the universe of human proteins at neXtProt for LHCGR: NX_P22888

Explore proteomics data for LHCGR at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn99, Asn174, Asn195, Asn291, Asn299, Asn313
  • Modification sites at PhosphoSitePlus

  • See LHCGR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000224.2  
    ENSEMBL proteins: 
     ENSP00000294954   ENSP00000386033   ENSP00000385847   ENSP00000385406   ENSP00000473498  
     ENSP00000403748   ENSP00000344301  
    Reactome Protein details: P22888

    LHCGR Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GTSHR: GPCR / Class A : Gonadotropin and TSH receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: LH receptor
    Glycoprotein hormone receptors

    Selected InterPro protein domains (see all 6):
     IPR002273 LSH_rcpt
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000372 LRR-contain_N
     IPR002131 Gphrmn_rcpt_fam
     IPR026906 LRR_5

    Graphical View of Domain Structure for InterPro Entry P22888

    ProtoNet protein and cluster: P22888

    3 Blocks protein domains:
    IPB000372 Cysteine-rich flanking region
    IPB002131 Glycoprotein hormone receptor signature
    IPB002273 Lutropin-choriogonadotropic hormone receptor precursor signature


    UniProtKB/Swiss-Prot: LSHR_HUMAN, P22888
    Similarity: Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily
    Similarity: Contains 6 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRNT domain


    LHCGR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LSHR_HUMAN, P22888
    Function: Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G
    proteins which activate adenylate cyclase

         Genatlas biochemistry entry for LHCGR:
    luteinizing hormone/choriogonadotropin receptor,G protein coupled receptor superfamily,regulating in males,the
    devopment and function of Leyding cells with somatic activating mutations leading to Leyding cell and adenomes of
    the testis

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004964luteinizing hormone receptor activity IEA--
    GO:0035472choriogonadotropin hormone receptor activity ISS--
    GO:0038106choriogonadotropin hormone binding ISS--
         
    LHCGR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LHCGR:
     Increased circadian period len 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Lhcgr):
     adipose tissue  behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  renal/urinary system 
     reproductive system 

    LHCGR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LHCGR: Lhcgrtm1Hht Lhcgrtm1Cvr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LHCGR
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    miRNA
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    miRTarBase miRNAs that target LHCGR:
    hsa-mir-148b-3p (MIRT019289)

    Block miRNA regulation of human, mouse, rat LHCGR using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate LHCGR:
    hsa-miR-33a* hsa-miR-513a-3p
    SwitchGear 3'UTR luciferase reporter plasmidLHCGR 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHCGR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LSHR_HUMAN, P22888: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome4
    extracellular2
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome TAS10617611
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ISS--
    GO:0016021integral component of membrane ----

    LHCGR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LHCGR About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    4Prolactin Signaling Pathway
    Prolactin signaling pathway0.33
    5Ca-dependent events
    Development Role of Activin A in cell differentiation and proliferation0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for LHCGR
        Development Role of Activin A in cell differentiation and proliferation

    4 BioSystems Pathways for LHCGR
        Ovarian Infertility Genes
    GPCRs, Class A Rhodopsin-like
    Arf6 signaling events
    Peptide GPCRs

    2 Reactome Pathways for LHCGR
        Hormone ligand-binding receptors
    G alpha (s) signalling events


    4 Kegg Pathways  (Kegg details for LHCGR):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Ovarian steroidogenesis
    Prolactin signaling pathway


    LHCGR for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LHCGR: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LHCGR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LHCGR (P228883 ENSP000002949544) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CGBP012333, ENSP000003499544I2D: score=1 STRING: ENSP00000349954
    CGB5P012333I2D: score=1 
    CGB7P012333I2D: score=1 
    CGB8P012333I2D: score=1 
    SLC9A3R1O147453, ENSP000002626134I2D: score=2 STRING: ENSP00000262613
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development IEA--
    GO:0007186G-protein coupled receptor signaling pathway TAS9626653
    GO:0007187G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS7719343
    GO:0007190activation of adenylate cyclase activity ISS--
    GO:0007200phospholipase C-activating G-protein coupled receptor signaling pathway ISS--

    LHCGR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LHCGR (LSHR)

    6 DrugBank Compounds for LHCGR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Lutropin alfaLH-B (see all 5)152923-57-4targetagonist11752352 17016423 17139284 20161981
    MenotropinsLH-B (see all 5)61489-71-2target--17139284 7872378 14680547 17016423
    CetrorelixCetrorelixum [INN-Latin] (see all 3)120287-85-6target--17016423 17139284 11943741
    Choriogonadotropin alfaCG-beta (see all 3)177073-44-8target--15967102 12606382 17059863
    Goserelin-- 65807-02-5targetagonist17139284 20053189 17016423
    Buserelin-- 57982-77-1target--20053189

    4 IUPHAR Ligands for LHCGR (LH receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    hCG
    AgonistFull agonist9.9 - 11.81922095 12727981
    LH
    AgonistFull agonist9.9 - 10.91922095 12727981
    [125I]LH
    AgonistFull agonist9.9 - 10.9--
    [125I]chorionic gonadotropin (human)
    AgonistFull agonist9.9 - 10.9--

    Selected Novoseek inferred chemical compound relationships for LHCGR gene (see all 41)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fmpp 89.1 7 11228053 (2), 10704433 (1), 9562960 (1), 16887451 (1) (see all 5)
    luteinizing hormone 72.1 3 14982927 (1), 10486313 (1), 9549048 (1)
    testosterone 62.6 19 19837924 (4), 14712099 (2), 20173016 (1), 18300940 (1) (see all 13)
    3beta-hydroxysteroid 57 5 10692843 (1), 19541795 (1), 11356670 (1)
    progesterone 55.5 28 11416034 (3), 15117876 (3), 7920181 (2), 18325989 (2) (see all 15)
    ribonucleic acid 42.3 2 11238527 (1), 17550979 (1)
    gnrh 41.6 8 16825187 (2), 17692113 (2), 15216901 (1), 14689055 (1)
    steroid 35.2 18 11356670 (2), 11423305 (2), 20173016 (1), 17709176 (1) (see all 9)
    leuprolide acetate 33.9 1 15216901 (1)
    leucine 32.9 5 11134146 (1), 9584216 (1), 10215412 (1), 15908694 (1) (see all 5)



    LHCGR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LHCGR gene: 
    NM_000233.3  

    Unigene Cluster for LHCGR:

    Luteinizing hormone/choriogonadotropin receptor
    Hs.468490  [show with all ESTs]
    Unigene Representative Sequence: NM_000233
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000420913 ENST00000294954(uc002rwu.4) ENST00000405626 ENST00000403273
    ENST00000401907(uc002rwv.2) ENST00000602369 ENST00000477576 ENST00000428232
    ENST00000344775
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidLHCGR 3' UTR sequence
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    Additional mRNA sequence: 

    AK123498.1 M63108.1 M73746.1 S57793.1 

    6 DOTS entries:

    DT.92401909  DT.100840634  DT.451942  DT.121363971  DT.75162767  DT.100818328 

    11 AceView cDNA sequences:

    S57793 BX097897 AW665653 NM_000233 BX101581 M63108 M73746 AI215411 
    AI126141 AK123498 AI004840 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LHCGR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCTAAATT
    LHCGR Expression
    About this image


    LHCGR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Theca Cells Antral Follicle
             Oviduct
             Mature follicles
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Testicular Interstitial Cells Testis Interstitium
             Long-time differentiated EBs
     
     Placenta (Extraembryonic Tissues)
             Villous Cytotrophoblast Cells Chorionic Villus
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Brain (Nervous System)
             Medulla Oblongata
    LHCGR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LHCGR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.468490

    UniProtKB/Swiss-Prot: LSHR_HUMAN, P22888
    Tissue specificity: Gonadal and thyroid cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LHCGR: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LHCGR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LHCGR gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lhcgr1 , 5 luteinizing hormone/choriogonadotropin receptor1, 5 84.64(n)1
    85.8(a)1
      17 (58.35 cM)5
    168671  NM_013582.21  NP_038610.11 
     887415495 
    chicken
    (Gallus gallus)
    Aves LHCGR1 luteinizing hormone/choriogonadotropin receptor 72.45(n)
    74.65(a)
      395776  NM_204936.1  NP_990267.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia lhcgr-A2 luteinizing hormone/choriogonadotropin receptor 76.76(n)    AJ249845.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lhcgr1 luteinizing hormone/choriogonadotropin receptor 58.6(n)
    55.97(a)
      402920  NM_205625.1  NP_991188.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fsh3
    Lgr11
    G-protein coupled receptor protein
    signaling pathway more3
    Lgr11
    37(a)
    (best of 2)3
    50.91(n)1
    43.16(a)1
      3 90C23
    421331  NM_079669.31  NP_524393.21 
    worm
    (Caenorhabditis elegans)
    Secernentea C50H2.13
    fshr-11
    steroid hormone receptor3
    fshr-11
    29(a)3
    46.42(n)1
    32.64(a)1
      V(9892549-9897216)3
    1793811  NM_073147.61  NP_505548.11 


    ENSEMBL Gene Tree for LHCGR (if available)
    TreeFam Gene Tree for LHCGR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LHCGR gene
    LGR52  FSHR2  RXFP12  LGR62  RXFP22  TSHR2  LGR42  
    3 SIMAP similar genes for LHCGR using alignment to 9 protein entries:     LSHR_HUMAN (see all proteins):
    FSHR    TSHR    LGR5

    LHCGR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LHCGR (see all 66)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219125391,2,,4
    C,FLuteinizing hormone resistance (LHR)4 pathogenic148818835(-) CGAAGA/G/TTCTTC 2 V F mis11NA 4550
    VAR_0357644
    A breast cancer sample4--see VAR_0357642 D N mis40--------
    VAR_0035624
    Luteinizing hormone resistance (LHR)4--see VAR_0035622 S Y mis40--------
    VAR_0035594
    Familial male precocious puberty (FMPP)4--see VAR_0035592 D G mis40--------
    VAR_0101614
    Familial male precocious puberty (FMPP)4--see VAR_0101612 D E mis40--------
    VAR_0035584
    Familial male precocious puberty (FMPP)4--see VAR_0035582 T I mis40--------
    VAR_0035564
    Familial male precocious puberty (FMPP)4--see VAR_0035562 M I mis40--------
    VAR_0101624
    Leydig cell tumor4--see VAR_0101622 D H mis40--------
    VAR_0101544
    Luteinizing hormone resistance (LHR)4--see VAR_0101542 C R mis40--------
    VAR_0101604
    Familial male precocious puberty (FMPP)4--see VAR_0101602 I L mis40--------

    HapMap Linkage Disequilibrium report for LHCGR (48859428 - 48982880 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for LHCGR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv817851CNV Gain17921354
    nsv833992CNV Gain17160897

    Human Gene Mutation Database (HGMD): LHCGR
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing LHCGR
    DNA2.0 Custom Variant and Variant Library Synthesis for LHCGR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 152790   
    OMIM disorders: 176410  238320  
    UniProtKB/Swiss-Prot: LSHR_HUMAN, P22888
  • Familial male precocious puberty (FMPP) [MIM:176410]: In FMPP the receptor is constitutively activated.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Luteinizing hormone resistance (LHR) [MIM:238320]: An autosomal recessive disorder characterized by
    unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular
    development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in
    males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and
    high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones,
    lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form,
    displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for LHCGR (see all 51):    
    About MalaCards
    luteinizing hormone resistance, female    hypogonadism    leydig cell hypoplasia/agenesis    testotoxicosis
    leydig cell hypoplasia with pseudohermaphroditism    familial male-limited precocious puberty    leydig cells hypoplasia    precocious puberty
    leydig cell adenoma, somatic, with precocious puberty    precocious puberty, male    leydig cell hypoplasia with hypergonadotropic hypogonadism    ovarian epithelial cancer
    pseudohermaphroditism    hypogonadotropism    leiomyomatosis    germ cell cancer
    amenorrhea    adenoma    cushing's syndrome    hyperandrogenism

    2 diseases from the University of Copenhagen DISEASES database for LHCGR:
    Pseudohermaphroditism     Infertility

    LHCGR for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for LHCGR gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    precocious puberty, male-limited 94.2 21 7892197 (3), 11134146 (2), 8607787 (1), 7593421 (1) (see all 15)
    puberty precocious 81.8 36 9661624 (4), 11134146 (2), 12408104 (2), 9169417 (1) (see all 25)
    pseudohermaphroditism male 80.1 10 19551906 (2), 10704433 (1), 16433250 (1), 9626144 (1) (see all 9)
    leydig cell tumor 71.2 9 11823449 (1), 12933660 (1), 11861529 (1), 12150333 (1) (see all 6)
    ovarian dysgenesis 65 1 9562960 (1)
    primary amenorrhea 64.8 3 10704433 (1), 9626144 (1), 10714363 (1)
    pseudohermaphroditism 64.7 1 11145748 (1)
    hypogonadism male 61.5 2 10704433 (1), 18508780 (1)
    adrenal tumor 60.7 8 9626655 (2), 14666170 (2), 18509010 (1), 19131502 (1)
    hypoplasia 58.3 20 16433250 (2), 9817592 (2), 16709601 (2), 9890061 (1) (see all 15)

    Genetic Association Database (GAD): LHCGR
    Human Genome Epidemiology (HuGE) Navigator: LHCGR (22 documents)

    Export disorders for LHCGR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LHCGR gene, integrated from 10 sources (see all 411):
    (articles sorted by number of sources associating them with LHCGR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset. (PubMed id 12679452)1, 2, 4, 9 Powell B.L.... Berns E.M.J.J. (J. Clin. Endocrinol. Metab. 2003)
    2. A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty. (PubMed id 8829636)1, 2, 4 Cocco S.... Moi P. (Hum. Mutat. 1996)
    3. A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. (PubMed id 9626144)1, 2, 9 Stavrou S.S.... Imperato-Mcginley J. (J. Clin. Endocrinol. Metab. 1998)
    4. A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. (PubMed id 9661624)1, 2, 9 Latronico A.C.... Mendonca B.B. (J. Clin. Endocrinol. Metab. 1998)
    5. A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. (PubMed id 19551906)1, 2, 9 Qiao J.... Song H.-D. (Hum. Mutat. 2009)
    6. Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome. (PubMed id 17074323)1, 4, 9 KerkelAo E....Hovatta O. (Fertil. Steril. 2007)
    7. Evidence that palmitoylation of carboxyl terminus cysteine residues of the human luteinizing hormone receptor regulates postendocytic processing. (PubMed id 15539429)1, 2, 9 Munshi U.M.... Menon K.M. (Mol. Endocrinol. 2005)
    8. The lutropin/choriogonadotropin receptor, a 2002 perspective. (PubMed id 11943741)1, 7, 9 Ascoli M....Segaloff D.L. (Endocr. Rev. 2002)
    9. GnRH and LHR gene variants predict adverse outcome in premenopausal breast cancer patients. (PubMed id 17692113)1, 4, 9 Piersma D....Berns E.M. (Breast Cancer Res. 2007)
    10. Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility. (PubMed id 18300940)1, 4, 9 Simoni M....Gromoll J. (Pharmacogenet. Genomics 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3973 HGNC: 6585 AceView: LHCGR Ensembl:ENSG00000138039 euGenes: HUgn3973
    ECgene: LHCGR Kegg: 3973 H-InvDB: LHCGR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LHCGR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LHCGR Genetics and Cytogenetics in Oncology and Haematology
    GRIShttp://gris.ulb.ac.be/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LHCGR[genesymbol]
    Sequence-structure-function-analysis of glycoprotein hormone receptorshttp://www.ssfa-gphr.de/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LHCGR gene:
    Search GeneIP for patents involving LHCGR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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