Endometriosis Knowledgebase

Search Result

Gene id

3973

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

LHCGR Gene UCSC Ensembl

Aliases

HHG, LCGR, LGR2, LH/CG-R, LH/CGR, LHR, LHRHR, LSH-R, ULG5

Gene name

luteinizing hormone/choriogonadotropin receptor

Alternate names

lutropin-choriogonadotropic hormone receptor, hypergonadotropic hypogonadism, lutropin/choriogonadotropin receptor,

Gene location

2p16.3 (48755740: 48686773) Exons: 14 NC_000002.12

Gene summary(Entrez)

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]

OMIM

152790

Protein Summary

Protein general information

P22888

Name: Lutropin choriogonadotropic hormone receptor (LH/CG R) (Luteinizing hormone receptor) (LHR) (LSH R)

Length: 699 Mass: 78,643

Tissue specificity: Gonadal and thyroid cells.

Sequence

MKQRFSALQLLKLLLLLQPPLPRALREALCPEPCNCVPDGALRCPGPTAGLTRLSLAYLPVKVIPSQAFRGLNEV
IKIEISQIDSLERIEANAFDNLLNLSEILIQNTKNLRYIEPGAFINLPRLKYLSICNTGIRKFPDVTKVFSSESN
FILEICDNLHITTIPGNAFQGMNNESVTLKLYGNGFEEVQSHAFNGTTLTSLELKENVHLEKMHNGAFRGATGPK
TLDISSTKLQALPSYGLESIQRLIATSSYSLKKLPSRETFVNLLEATLTYPSHCCAFRNLPTKEQNFSHSISENF
SKQCESTVRKVNNKTLYSSMLAESELSGWDYEYGFCLPKTPRCAPEPDAFNPCEDIMGYDFLRVLIWLINILAIM
GNMTVLFVLLTSRYKLTVPRFLMCNLSFADFCMGLYLLLIASVDSQTKGQYYNHAIDWQTGSGCSTAGFFTVFAS
ELSVYTLTVITLERWHTITYAIHLDQKLRLRHAILIMLGGWLFSSLIAMLPLVGVSNYMKVSICFPMDVETTLSQ
VYILTILILNVVAFFIICACYIKIYFAVRNPELMATNKDTKIAKKMAILIFTDFTCMAPISFFAISAAFKVPLIT
VTNSKVLLVLFYPINSCANPFLYAIFTKTFQRDFFLLLSKFGCCKRRAELYRRKDFSAYTSNCKNGFTGSNKPSQ
STLKLSTLHCQGTALLDKTRYTEC

Structural information

Protein Domains	LRRNT. (27-66)
Interpro:	IPR000276 IPR017452 IPR002131 IPR032675 IPR026906 IPR002273 IPR034298
Prosite:	PS00237 PS50262
Pfam:	PF00001 PF13306
PDB:	1LUT 1XUL
PDBsum:	1LUT 1XUL
STRING:	ENSP00000294954;

Other Databases

GeneCards: LHCGR; Malacards: LHCGR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004964	luteinizing hormone recep tor activity	IBA	molecular_function
GO:0005768	endosome	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	ISS	cellular_component
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0007187	G-protein coupled recepto r signaling pathway, coup led to cyclic nucleotide second messenger	TAS	biological_process
GO:0007189	adenylate cyclase-activat ing G-protein coupled rec eptor signaling pathway	IBA	biological_process
GO:0007190	activation of adenylate c yclase activity	ISS	biological_process
GO:0007190	activation of adenylate c yclase activity	IBA	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	ISS	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	IBA	biological_process
GO:0008528	G-protein coupled peptide receptor activity	IBA	molecular_function
GO:0008584	male gonad development	TAS	biological_process
GO:0009755	hormone-mediated signalin g pathway	IBA	biological_process
GO:0022602	ovulation cycle process	IBA	biological_process
GO:0030539	male genitalia developmen t	TAS	biological_process
GO:0032962	positive regulation of in ositol trisphosphate bios ynthetic process	ISS	biological_process
GO:0035472	choriogonadotropin hormon e receptor activity	ISS	molecular_function
GO:0038106	choriogonadotropin hormon e binding	ISS	molecular_function
GO:0042700	luteinizing hormone signa ling pathway	IEA	biological_process
GO:0043950	positive regulation of cA MP-mediated signaling	ISS	biological_process
GO:0050890	cognition	IMP	biological_process
GO:0071371	cellular response to gona dotropin stimulus	ISS	biological_process
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004964	luteinizing hormone recep tor activity	IEA	molecular_function
GO:0004964	luteinizing hormone recep tor activity	IBA	molecular_function
GO:0005768	endosome	TAS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	ISS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007165	signal transduction	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0007187	G-protein coupled recepto r signaling pathway, coup led to cyclic nucleotide second messenger	TAS	biological_process
GO:0007189	adenylate cyclase-activat ing G-protein coupled rec eptor signaling pathway	IBA	biological_process
GO:0007190	activation of adenylate c yclase activity	ISS	biological_process
GO:0007190	activation of adenylate c yclase activity	IBA	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	ISS	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	IBA	biological_process
GO:0008528	G-protein coupled peptide receptor activity	IBA	molecular_function
GO:0008584	male gonad development	TAS	biological_process
GO:0009755	hormone-mediated signalin g pathway	IBA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016500	protein-hormone receptor activity	IEA	molecular_function
GO:0022602	ovulation cycle process	IBA	biological_process
GO:0030539	male genitalia developmen t	TAS	biological_process
GO:0032962	positive regulation of in ositol trisphosphate bios ynthetic process	ISS	biological_process
GO:0035472	choriogonadotropin hormon e receptor activity	ISS	molecular_function
GO:0038106	choriogonadotropin hormon e binding	ISS	molecular_function
GO:0042700	luteinizing hormone signa ling pathway	IEA	biological_process
GO:0043950	positive regulation of cA MP-mediated signaling	ISS	biological_process
GO:0050890	cognition	IMP	biological_process
GO:0071371	cellular response to gona dotropin stimulus	ISS	biological_process
GO:0004964	luteinizing hormone recep tor activity	IBA	molecular_function
GO:0005768	endosome	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	ISS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0007186	G-protein coupled recepto r signaling pathway	TAS	biological_process
GO:0007187	G-protein coupled recepto r signaling pathway, coup led to cyclic nucleotide second messenger	TAS	biological_process
GO:0007189	adenylate cyclase-activat ing G-protein coupled rec eptor signaling pathway	IBA	biological_process
GO:0007190	activation of adenylate c yclase activity	ISS	biological_process
GO:0007190	activation of adenylate c yclase activity	IBA	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	ISS	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	IBA	biological_process
GO:0008528	G-protein coupled peptide receptor activity	IBA	molecular_function
GO:0008584	male gonad development	TAS	biological_process
GO:0009755	hormone-mediated signalin g pathway	IBA	biological_process
GO:0022602	ovulation cycle process	IBA	biological_process
GO:0030539	male genitalia developmen t	TAS	biological_process
GO:0032962	positive regulation of in ositol trisphosphate bios ynthetic process	ISS	biological_process
GO:0035472	choriogonadotropin hormon e receptor activity	ISS	molecular_function
GO:0038106	choriogonadotropin hormon e binding	ISS	molecular_function
GO:0043950	positive regulation of cA MP-mediated signaling	ISS	biological_process
GO:0050890	cognition	IMP	biological_process
GO:0071371	cellular response to gona dotropin stimulus	ISS	biological_process

KEGG pathways

hsa04080  Neuroactive ligand-receptor interaction
hsa04917  Prolactin signaling pathway
hsa04913  Ovarian steroidogenesis
hsa04020  Calcium signaling pathway

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 18439297
Amenorrhea	PMID: 22369774
Autism	PMID: 19598235
Diminished ovarian reserve (DOR)	PMID: 22355044
Ectopic endometriosis	PMID: 1400884
Empty follicle syndrome	PMID: 23044874
Endometriosis	PMID: 18579845
Hyperandrogenism	PMID: 19403562
Leydig cell hypoplasia	OMIM: 152790
Luteal phase defects (LPD)	OMIM: 152790
Maldescended testes	PMID: 18300940
Male infertility	PMID: 22382642
Male pseudohermaphroditism (MPH)	PMID: 9626144
Oligoamenorrhea	PMID: 19129711
Ovarian hyperstimulation syndrome(OHSS)	PMID: 23883350
Female infertility	INFBASE25935136
Endometriosis	INFBASE18579845
Endometriosis (ectopic)	INFBASE1400884
Polycystic ovary syndrome (PCOS)	PMID: 23603633
Precocious puberty	OMIM: 152790
Precocious puberty	KEGG: H00937
Premature ovarian failure ( POF)	PMID: 25989972, KEGG: H00627
Psychiatric disorders	PMID: 19086053
Testicular germ cell cancer	PMID: 22245602

PubMed references

PMID	Condition	Mutation	Population details	Infertility_type	Associated_genes	Abstract
1400884	Endometrio sis (ectop ic)		26 (12 normal p eritoneum from patients with e ndometriosis, 1 4 without endom etriosis)	Female infertility	hCG LHR	Show abstract
25935136	Endometrio sis	LH (Trp8Arg/Ile15Thr), LH receptor (insLQ), and FSH receptor (Asn680Ser)	132 (67 with en dometriosis and infertility, 65 healthy fert ile patients (c ontrol group))	Female infertility	LH LHR FSHR	Show abstract
18579845	Endometrio sis		45 (23 paired s amples of ectop ic and eutopic tissue of cycli ng women with e ndometriosis, 2 2 healthy contr ols)		HCG/LH-R	Show abstract