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FLASH GENE
Symbol LHCGR contributors: mct/npt - updated : 15-06-2017
HGNC name luteinizing hormone/choriogonadotropin receptor
HGNC id 6585
Corresponding disease
PHLCH male pseudohermaphroditism
PPML precocious puberty, male-limited
Location 2p16.3      Physical location : 48.913.920 - 48.982.880
Synonym name
  • lutropin/choriogonadotropin receptor
  • luteinizing hormone receptor
  • Synonym symbol(s) LHR, LCGR, LGR2, ULG5, LSH-R, LH/CGR, FLJ41504
    DNA
    TYPE functioning gene
    STRUCTURE 68.97 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    EPAS1 2p21-p26 endothelial PAS domain protein 1 LOC388945 2 LOC388945 LOC388946 2 LOC388946 ATP6V1E2 2p21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2 ARHQ 2p21 ras homolog gene family, member Q PIGF 2p16 phosphatidylinositol glycan, class F CRIPT 2p21 phosphatidylinositol glycan, class F LOC388947 2 LOC388947 SOCS5 2p21 suppressor of cytokine signaling 5 LOC388948 2 hypothetical gene supported by BC062774 MCFD2 TTC7 2p21 tetratricopeptide repeat domain 7 FLJ40172 2p21 hypothetical protein FLJ40172 CALM2 2p21.3-p21.1 calmodulin 2 (phosphorylase kinase, delta) TACSTD1 2p21 tumor-associated calcium signal transducer 1 MSH2 2p22-p21 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) KCNK12 2p22-p21 potassium channel, subfamily K, member 12 LOC285053 2p21 similar to ribosomal protein L18a; 60S ribosomal protein L18a LOC391372 2 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) MSH6 2p16 mutS homolog 6 (E. coli) FBXO11 2p21-p16 F-box only protein 11 HTLF 2p21 human T-cell leukemia virus enhancer factor LOC129285 2p21 smooth muscle myosin heavy chain 11 isoform SM1-like SALF 2p16.3 smooth muscle myosin heavy chain 11 isoform SM1-like SBLF 2p16.3 stoned B-like factor ALF 2p16.3 stoned B-like factor LHCGR 2p21 luteinizing hormone/choriogonadotropin receptor LOC391373 2 similar to C-terminal binding protein 2 isoform 2; ribeye FSHR 2p16 follicle stimulating hormone receptor LOC339793 2p21 similar to PRO1094 LOC130728 2p21 similar to 60S ribosomal protein L7 NRXN1 2p16.3 neurexin 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 3093 - 699 - 2016 27061682
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    endocrinegonadal cell
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Endocrinethyroid cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a large N terminal extracellular domain containing nine leucine-rich repeat motifs
  • a stretch of five amino acids Ala (A)-Phe (F)-Asn (N)-Gly (G)-Thr (T), highly conserved in glycoprotein hormone receptors
  • a C terminal half homolog of the rhodopsin-like receptors
  • conjugated GlycoP , PhosphoP
    HOMOLOGY
    interspecies ortholog to murine Lhcgr
    homolog to Drosophila Fsh
    homolog to C.elegans C50H2.1
    Homologene
    FAMILY
  • G-protein coupled receptor 1 family
  • FSH/LSH/TSH subfamily
  • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • acting as luteinizing hormone/choriogonadotropin receptor (gonadotropin receptor)
  • regulating in males the devopment and function of Leyding cells
  • playing a role in male secondary sexual character development
  • is a G(s)-coupled GPCR that is essential for the maturation and function of the ovary and testis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text development of Leyding cells
    PATHWAY
    metabolism
    signaling hormonal
    a component
  • inactive mutant attenuates signaling of wild-type or constitutively active receptors via heterodimerization (Zhang 2009)
  • coexpression of the LHCGR and FSHR enables heterodimerizaton between the 2 gonadotropin receptors and results in an attenuation of signaling through each receptor
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MVK binds to the coding region of LHCGR mRNA, suppresses its translation, and the resulting ribonucleoprotein complex is targeted for degradation
  • ARF6 activated by the LHCGR through the cytohesin family of guanine nucleotide exchange factors mediates the receptor internalization and signaling
  • LHCGR signaling in regulating the AHR message involves protein kinase A pathway and is attributable to decreased transcription rate
  • by inhibiting EIF5A hypusination, FSH reduces the expression of MVK that increases LHCGR mRNA expression by abrogating the inhibitory action of MVK
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PHLCH , PPML
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    secondary amenorrhea in females belonging to pedigrees of male patients with Leydig hypoplasia
    constitutional     --over  
    in granulosa cells (GC) from polycystic ovarian syndrome (PCOS) women
    constitutional germinal mutation      
    in empty follicle syndrome (EFS) in a family
    Susceptibility to endometrioid adenocarcinoma
    Variant & Polymorphism SNP
  • rs13405728 in gene LHCGR are associated with endometrioid adenocarcinoma
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS