Entity Details

Primary name LHCGR
Entity type gene
Source Source Link

Details

PrimaryID3973
RefseqGeneNG_008193
SymbolLHCGR
Nameluteinizing hormone/choriogonadotropin receptor
Chromosome2
Location2p16.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1990-09-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLSHR_HUMAN

GO terms

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GOName
GO:0001541 ovarian follicle development
GO:0002862 negative regulation of inflammatory response to antigenic stimulus
GO:0004964 luteinizing hormone receptor activity
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0007190 activation of adenylate cyclase activity
GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway
GO:0008528 G protein-coupled peptide receptor activity
GO:0008584 male gonad development
GO:0009755 hormone-mediated signaling pathway
GO:0022602 ovulation cycle process
GO:0030539 male genitalia development
GO:0032962 positive regulation of inositol trisphosphate biosynthetic process
GO:0035472 choriogonadotropin hormone receptor activity
GO:0038106 choriogonadotropin hormone binding
GO:0042700 luteinizing hormone signaling pathway
GO:0050890 cognition
GO:0071371 cellular response to gonadotropin stimulus
GO:0071373 cellular response to luteinizing hormone stimulus

Diseases

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Disease IDSourceNameDescription
238320 OMIMLuteinizing hormone resistance (LHR)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. The disease is caused by variants affecting the gene represented in this entry.
176410 OMIMFamilial male precocious puberty (FMPP)In FMPP the receptor is constitutively activated. The disease is caused by variants affecting the gene represented in this entry.