LHCGR: Polycystic Ovarian Syndrome Database

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LHCGR

Gene Information

SNPs

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

LHCGR

Aliases

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

Entrez Gene ID

3973

Gene Name

Luteinizing hormone/choriogonadotropin receptor

Chromosomal Location

2p16.3

HGNC ID

HGNC:6585

Summary

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]

RefSeq DNA

NG_008193.2

RefSeq mRNA

NM_000233.4

e!Ensembl

Gene	ENSG00000138039
Transcript	ENST00000294954, ENST00000405626, ENST00000403273, ENST00000401907, ENST00000428232
Protein	ENSP00000294954, ENSP00000386033, ENSP00000385847, ENSP00000385406, ENSP00000403748

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs13405728	ATTCCTGCTGGTCTTGGTTAGTACCA	C/T	TCAATAAAATGTTAGGACCCGGGCT	Intron variant	25978310, 21151128
rs7371084	GGACTGCAGGGCGCTCACGCTTGCTG	C/T	GAAGTAAGGCGTTTGAAGGTGAGGC	Intron variant	25649397
rs4953616	GGACTGCAGGGCGCTCACGCTTGCTG	C/T	GAAGTAAGGCGTTTGAAGGTGAGGC	Intron variant	25649397

Gene Ontology (GO)

Show/Hide all(18 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007187	Biological process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	7719343
GO:0007189	Biological process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007190	Biological process	Activation of adenylate cyclase activity	IBA	21873635
GO:0007200	Biological process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0008584	Biological process	Male gonad development	TAS	7719343
GO:0009755	Biological process	Hormone-mediated signaling pathway	IBA	21873635
GO:0022602	Biological process	Ovulation cycle process	IBA	21873635
GO:0030539	Biological process	Male genitalia development	TAS	9626653
GO:0042700	Biological process	Luteinizing hormone signaling pathway	IBA	21873635
GO:0042700	Biological process	Luteinizing hormone signaling pathway	IMP	11847099
GO:0050890	Biological process	Cognition	IMP	23227193
GO:0071373	Biological process	Cellular response to luteinizing hormone stimulus	IMP	11847099
GO:0005768	Cellular component	Endosome	TAS	10617611
GO:0005886	Cellular component	Plasma membrane	IDA	11847099
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0004964	Molecular function	Luteinizing hormone receptor activity	IBA	21873635
GO:0004964	Molecular function	Luteinizing hormone receptor activity	IMP	11847099
GO:0008528	Molecular function	G protein-coupled peptide receptor activity	IBA	21873635

Protein Information

Protein Name

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

Function

Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase

Refseq Proteins

NP_000224.2

UniProt

P22888

PDB

1XUL, 1LUT

Pfam

Pfam Accession	Pfam ID
PF00001	7tm_1
PF13306	LRR_5

Pathways
	KEGG	Reactome
	Calcium signaling pathway Neuroactive ligand-receptor interaction Ovarian steroidogenesis Prolactin signaling pathway	Hormone ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

Interactions

STRING	MINT	IntAct
ENSP00000276414		P01148

View interactions

Associated Diseases

Show/Hide all(3 )

Disease group	Disease Name	References
Endocrine System Diseases
	Leydig cell agenesis	12050206, 15472221, 7719343, 9514160, 8559204, 9215288, 15372531, 19551906, 9626653, 9626144, 7581384, 8923827, 25741868, 9817592
	Leydig Cell Hypoplasia	19551906, 9626144, 9514160, 15472221, 8559204, 7719343, 15372531, 9626653, 9215288, 12050206
	Gonadal Dysgenesis, 46,XY	19887492, 7719343
	Familial Testotoxicosis	8929952, 9467560, 11391350, 7714085, 7629248, 8281137, 11134146, 7692306, 8829636, 7757065, 9661624, 7527413, 7562970, 8855841, 9703386, 7892197, 26831561, 16684832, 19209621, 18345393
	Ambiguous Genitalia	22615892
	Pseudohermaphroditism	19887492, 7719343, 22615892
	Luteinizing Hormone Resistance	7719343, 9626653, 9514160, 19551906, 15472221, 15372531, 12050206, 8559204, 9215288, 9626144
	Intersex Conditions	22615892
	Hermaphroditism	22615892
	Disorders of Sex Development	22615892
	Sex Differentiation Disorders	22615892
	PCOS	22356187
Neoplasms
	Leydig Cell Adenoma	10580072, 11857565, 11391350, 11134146, 7757065, 8929952, 9467560, 8281137, 7714085, 8829636, 7629248, 7692306, 9661624
	Leydig Cell Tumor	10580072, 11857565
Reproductive disorders
Reproductive disorders	Male infertility	20164437

References

Show/Hide all(7)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
23118426			rs7562215, rs10495960, rs13405728, rs35960650, rs2956355, and rs7562879	NIH criteria	Direct	905 women with PCOS, 956 control women	Fine mapping of the chromosome 2p16.3 Chinese PCOS susceptibility locus in a European ancestry cohort provides evidence for association with two independent loci and PCOS. The gene products LHCGR and FSHR therefore are likely to be important in the etiology of PCOS, regardless of ethnicity
24014605	CYP17A1			Rotterdam criteria	Related	16 PCO, 10 controls	LHCGR and 17 -hydroxylase/17-20-lyase (CYP17A1) protein levels are increased in polycystic ovaries (PCOs)
24592983		PCOS	G935A		Direct	100 women with PCOS, 60 healthy female controls	These results may provide an opportunity to test this SNP at the LHCGR gene in fertile or infertile women with family history to assess their risk of PCOS
24527662	THADA, DENND1A, FSHR, c9orf3, YAP1, RAB5B/SUOX, HMGA2, TOX3, INSR, SUMO1P1	PCOS		Rotterdam criteria	Direct	192 women with PCOS, and no novel somatic mutations, 85 women with PCOS and 88 control women	The tendency of LHCGR to be hypomethylated across different tissues and its corresponding expression level suggest that hypomethylation of LHCGR is a potential mechanism underlying susceptibility to PCOS
24106282	THADA, DENND1A, FSHR, c9orf3, YAP1, RAB5B/SUOX, HMGA2, TOX3, INSR, SUMO1P1		rs13405728	Rotterdam criteria	Direct	703 Dutch PCOS patients and 2164 Dutch controls	This study identifies 12 genetic variants mapping to the Chinese PCOS loci similar effect size and identical direction in PCOS patients from Northern European ancestry, indicating a common genetic risk profile for PCOS across populations
22356187			ins18LQ, S291N and S312N variants		Direct	198 PCOS and 187 non-PCOS	We have identified a genetic variant that is strongly associated with PCOS in an isolated population
26573528	THADA, FSHR, KHDRBS3, YAP1, RAB5B�and�TOX3	hyperandrogenemia, menstruation number/year and polycystic ovary morphology	rs10176989		Direct	862 women with PCOS and 860 controls in the Korean population	The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P < 0.01) and was significantly associated with PCOS after adjusting for age and BMI

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