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Aliases for LHCGR Gene

Aliases for LHCGR Gene

  • Luteinizing Hormone/Choriogonadotropin Receptor 2 3 5
  • Hypergonadotropic Hypogonadism 2 3
  • LH/CG-R 3 4
  • LHRHR 3 4
  • LSH-R 3 4
  • LCGR 3 4
  • LGR2 3 4
  • LHR 3 4
  • Lutropin-Choriogonadotropic Hormone Receptor 3
  • Lutropin/Choriogonadotropin Receptor 3
  • Luteinizing Hormone Receptor 4
  • LH/CGR 3
  • ULG5 3
  • HHG 3

External Ids for LHCGR Gene

Previous HGNC Symbols for LHCGR Gene

  • HHG

Previous GeneCards Identifiers for LHCGR Gene

  • GC02M048944
  • GC02M049082
  • GC02M048888
  • GC02M048825
  • GC02M048862

Summaries for LHCGR Gene

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 Precocious Puberty, Male and Leydig Cell Hypoplasia With Pseudohermaphroditism. Among its related pathways are Signaling by GPCR and Prolactin Signaling Pathway. GO annotations related to this gene include G-protein coupled receptor activity and luteinizing hormone receptor activity. An important paralog of this gene is TSHR.

UniProtKB/Swiss-Prot for LHCGR Gene

  • Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

Gene Wiki entry for LHCGR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHCGR Gene

Genomics for LHCGR Gene

Regulatory Elements for LHCGR Gene

Enhancers for LHCGR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F048713 1.3 FANTOM5 Ensembl ENCODE 9.6 +40.7 40737 3.0 ZNF316 ZNF366 PRDM10 FOS MAFK ZNF680 BHLHE40 MAFG MAFF ATF3 LHCGR STON1-GTF2A1L STON1 ENSG00000279956 GC02P048647
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LHCGR on UCSC Golden Path with GeneCards custom track

Promoters for LHCGR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001822619 41 200

Genomic Location for LHCGR Gene

Chromosome:
2
Start:
48,686,774 bp from pter
End:
48,755,741 bp from pter
Size:
68,968 bases
Orientation:
Minus strand

Genomic View for LHCGR Gene

Genes around LHCGR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHCGR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHCGR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHCGR Gene

Proteins for LHCGR Gene

  • Protein details for LHCGR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22888-LSHR_HUMAN
    Recommended name:
    Lutropin-choriogonadotropic hormone receptor
    Protein Accession:
    P22888
    Secondary Accessions:
    • Q14751
    • Q15996
    • Q9UEW9

    Protein attributes for LHCGR Gene

    Size:
    699 amino acids
    Molecular mass:
    78643 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for LHCGR Gene

    Alternative splice isoforms for LHCGR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LHCGR Gene

Post-translational modifications for LHCGR Gene

  • Glycosylation at Asn 99, Asn 174, Asn 195, Asn 291, Asn 299, and Asn 313
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for LHCGR Gene

Domains & Families for LHCGR Gene

Gene Families for LHCGR Gene

Suggested Antigen Peptide Sequences for LHCGR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22888

UniProtKB/Swiss-Prot:

LSHR_HUMAN :
  • Contains 1 LRRNT domain.
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
  • Contains 6 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRNT domain.
Family:
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Similarity:
  • Contains 6 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LHCGR: view

Function for LHCGR Gene

Molecular function for LHCGR Gene

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

Gene Ontology (GO) - Molecular Function for LHCGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004964 luteinizing hormone receptor activity IEA,IBA --
GO:0008528 G-protein coupled peptide receptor activity IBA --
GO:0016500 protein-hormone receptor activity IEA --
GO:0035472 choriogonadotropin hormone receptor activity ISS --
genes like me logo Genes that share ontologies with LHCGR: view
genes like me logo Genes that share phenotypes with LHCGR: view

Human Phenotype Ontology for LHCGR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LHCGR Gene

MGI Knock Outs for LHCGR:

Animal Model Products

miRNA for LHCGR Gene

miRTarBase miRNAs that target LHCGR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LHCGR

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LHCGR Gene

Localization for LHCGR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHCGR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LHCGR gene
Compartment Confidence
plasma membrane 5
endosome 4
extracellular 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LHCGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome TAS 10617611
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LHCGR: view

Pathways & Interactions for LHCGR Gene

genes like me logo Genes that share pathways with LHCGR: view

SIGNOR curated interactions for LHCGR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LHCGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,TAS 9626653
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 7719343
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IBA --
GO:0007190 activation of adenylate cyclase activity ISS --
genes like me logo Genes that share ontologies with LHCGR: view

Drugs & Compounds for LHCGR Gene

(42) Drugs for LHCGR Gene - From: DrugBank, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Goserelin Approved Pharma Full agonist, Agonist, activator, Target, agonist 229
Cetrorelix Approved, Investigational Pharma Antagonist, Target 63
Lutropin alfa Approved Pharma binder, Target, agonist 0
Menotropins Approved Pharma binder, Target 60
Buserelin Approved Pharma Full agonist, Agonist, Target 32

(16) Additional Compounds for LHCGR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LHCGR: view

Transcripts for LHCGR Gene

mRNA/cDNA for LHCGR Gene

Unigene Clusters for LHCGR Gene

Luteinizing hormone/choriogonadotropin receptor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LHCGR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LHCGR Gene

No ASD Table

Relevant External Links for LHCGR Gene

GeneLoc Exon Structure for
LHCGR
ECgene alternative splicing isoforms for
LHCGR

Expression for LHCGR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LHCGR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LHCGR Gene

This gene is overexpressed in Esophagus - Muscularis (x13.1), Nerve - Tibial (x8.3), Esophagus - Gastroesophageal Junction (x6.7), and Ovary (x4.7).

Protein differential expression in normal tissues from HIPED for LHCGR Gene

This gene is overexpressed in Fetal ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LHCGR Gene



Protein tissue co-expression partners for LHCGR Gene

NURSA nuclear receptor signaling pathways regulating expression of LHCGR Gene:

LHCGR

SOURCE GeneReport for Unigene cluster for LHCGR Gene:

Hs.468490

mRNA Expression by UniProt/SwissProt for LHCGR Gene:

P22888-LSHR_HUMAN
Tissue specificity: Gonadal and thyroid cells.
genes like me logo Genes that share expression patterns with LHCGR: view

Primer Products

Orthologs for LHCGR Gene

This gene was present in the common ancestor of animals.

Orthologs for LHCGR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LHCGR 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia LHCGR 34 35
  • 90.2 (n)
cow
(Bos Taurus)
Mammalia LHCGR 34 35
  • 89.11 (n)
rat
(Rattus norvegicus)
Mammalia Lhcgr 34
  • 84.89 (n)
mouse
(Mus musculus)
Mammalia Lhcgr 34 16 35
  • 84.64 (n)
oppossum
(Monodelphis domestica)
Mammalia LHCGR 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LHCGR 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves LHCGR 34 35
  • 72.45 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia lhcgr 34
  • 66.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia lhcgr-A 34
zebrafish
(Danio rerio)
Actinopterygii lhcgr 34 35
  • 58.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lgr1 34 35
  • 50.91 (n)
Fsh 36
  • 37 (a)
rk 36
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta GPRFSH 34
  • 49.4 (n)
worm
(Caenorhabditis elegans)
Secernentea fshr-1 34 35
  • 46.42 (n)
C50H2.1 36
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
Species where no ortholog for LHCGR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LHCGR Gene

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

Paralogs for LHCGR Gene

Paralogs for LHCGR Gene

(3) SIMAP similar genes for LHCGR Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with LHCGR: view

Variants for LHCGR Gene

Sequence variations from dbSNP and Humsavar for LHCGR Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121912518 Familial male precocious puberty (FMPP) [MIM:176410], Pathogenic 48,688,064(-) CACCG(A/G)TTTCA intron-variant, reference, missense
rs121912519 Familial male precocious puberty (FMPP) [MIM:176410], Pathogenic 48,688,084(-) AAAAT(A/G)GCAAT intron-variant, reference, missense
rs121912520 Luteinizing hormone resistance (LHR) [MIM:238320], Pathogenic 48,688,020(-) CAGCT(C/G)CCTTC intron-variant, reference, missense
rs121912521 Familial male precocious puberty (FMPP) [MIM:176410], Pathogenic 48,688,067(-) CTTCA(C/T)CGATT intron-variant, reference, missense
rs121912522 Familial male precocious puberty (FMPP) [MIM:176410], Pathogenic 48,688,082(-) AATGG(C/T)AATCC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LHCGR Gene

Variant ID Type Subtype PubMed ID
nsv1002793 CNV gain 25217958
nsv817851 CNV gain 17921354
nsv833992 CNV gain 17160897

Variation tolerance for LHCGR Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.85; 79.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LHCGR Gene

Human Gene Mutation Database (HGMD)
LHCGR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LHCGR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHCGR Gene

Disorders for LHCGR Gene

MalaCards: The human disease database

(23) MalaCards diseases for LHCGR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
precocious puberty, male
  • leydig cell adenoma, somatic, with precocious puberty
leydig cell hypoplasia with pseudohermaphroditism
  • leydig cell hypoplasia with hypergonadotropic hypogonadism
testotoxicosis
  • precocious puberty
leydig cell hypoplasia/agenesis
precocious puberty
  • familial precocious puberty
- elite association - COSMIC cancer census association via MalaCards
Search LHCGR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LSHR_HUMAN
  • Familial male precocious puberty (FMPP) [MIM:176410]: In FMPP the receptor is constitutively activated. {ECO:0000269 PubMed:11134146, ECO:0000269 PubMed:11391350, ECO:0000269 PubMed:7629248, ECO:0000269 PubMed:7692306, ECO:0000269 PubMed:7714085, ECO:0000269 PubMed:7757065, ECO:0000269 PubMed:8281137, ECO:0000269 PubMed:8829636, ECO:0000269 PubMed:8929952, ECO:0000269 PubMed:9467560, ECO:0000269 PubMed:9661624}. 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. {ECO:0000269 PubMed:12050206, ECO:0000269 PubMed:15372531, ECO:0000269 PubMed:15472221, ECO:0000269 PubMed:19551906, ECO:0000269 PubMed:7719343, ECO:0000269 PubMed:8559204, ECO:0000269 PubMed:9215288, ECO:0000269 PubMed:9514160, ECO:0000269 PubMed:9626144, ECO:0000269 PubMed:9626653}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LHCGR

Genetic Association Database (GAD)
LHCGR
Human Genome Epidemiology (HuGE) Navigator
LHCGR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHCGR
genes like me logo Genes that share disorders with LHCGR: view

No data available for Genatlas for LHCGR Gene

Publications for LHCGR Gene

  1. Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset. (PMID: 12679452) Powell B.L. … Berns E.M.J.J. (J. Clin. Endocrinol. Metab. 2003) 3 4 22 46 64
  2. A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. (PMID: 19551906) Qiao J. … Song H.-D. (Hum. Mutat. 2009) 3 4 22 64
  3. Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility. (PMID: 18300940) Simoni M. … Gromoll J. (Pharmacogenet. Genomics 2008) 3 22 46 64
  4. Polymorphic variations in exon 10 of the luteinizing hormone receptor: functional consequences and associations with breast cancer. (PMID: 17709176) Piersma D. … Themmen A.P. (Mol. Cell. Endocrinol. 2007) 3 22 46 64
  5. Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome. (PMID: 17074323) KerkelAo E. … Hovatta O. (Fertil. Steril. 2007) 3 22 46 64

Products for LHCGR Gene

Sources for LHCGR Gene

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