Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

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

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, ENST00000477576, ENST00000428232
Protein	ENSP00000294954, ENSP00000386033, ENSP00000385847, ENSP00000385406, , ENSP00000403748

SNPs

Show/Hide all(23)

SNP	SNP ID	Associated disease	References
Met575Ile		Gonadotropin Independent Precocious Puberty	8281137
Asx582Gly		Gonadotropin Independent Precocious Puberty	8281137
S312N		Male-limited Precocious Puberty	8812739
Met571Ile		Familial male-limited precocious puberty (FMPP)	10084607
Cys581Arg		Familial male-limited precocious puberty (FMPP)	10084607
C617Y		Familial male-limited precocious puberty (FMPP)	21060208
S277I		Testotoxicosis	26831561
Asp578Val		Testotoxicosis	27532428
Asp578Gly	rs121912518	Familial male-limited precocious puberty (FMPP), Testotoxicosis, Male-limited Precocious Puberty, Gonadotropin Independent Precocious Puberty	7527413, 7628171, 7692306, 7757065, 9598734, 9973550, 10084607, 16887451
Met398Thr	rs121912526	Familial male-limited precocious puberty (FMPP), Male-limited Precocious Puberty, Testotoxicosis, LH independent precocious puberty	7593421, 8607787, 8929952, 10084607, 11200941, 11228053, 11936470, 19492585, 21211360
Ala568Val	rs121912534	Familial male-limited precocious puberty (FMPP), Male-Gonadotropin independent precocious puberty, Male-limited Precocious Puberty	7629248, 9661624, 10084607, 11134146
A572V	rs121912522	Male-limited Precocious Puberty	7714085, 10084607, 23982246
M571I	rs121912519	Familial male-limited precocious puberty (FMPP)	7757065
N291S	rs12470652	Male-limited Precocious Puberty	8812739
Ile575Leu	rs767343825	Male-limited Precocious Puberty, Familial male-limited precocious puberty (FMPP)	8812739, 10084607
Ala373Val	rs121912528	Familial male-limited precocious puberty (FMPP), Testotoxicosis	9467560, 10084607, 26831561
D578Y	rs121912532	Male-limited Precocious Puberty, Familial male-limited precocious puberty (FMPP), Gonadotropin-dependent precocious puberty (GDPP), Testotoxicosis	9598734, 10084607, 18772599, 19280371, 31394950
Leu457Arg	rs121912535	Gonadotropin Independent Precocious Puberty	9661624
Ile542Leu	rs121912531	Familial male-limited precocious puberty (FMPP)	10084607
Asp564Gly	rs121912540	Familial male-limited precocious puberty (FMPP)	10084607, 16887451
Ala572Val	rs121912522	Familial male-limited precocious puberty (FMPP)	7714085, 10084607, 23982246
Thr577Ile	rs121912521	Familial male-limited precocious puberty (FMPP)	7757065, 8829636, 10084607, 19209621
L368P	rs121912533	Familial male-limited precocious puberty (FMPP)	11134146

Gene Ontology (GO)

Show/Hide all(19 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001541	Biological process	Ovarian follicle development	IBA	21873635
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	IBA	21873635
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 (PubMed:11847099).

Refseq Proteins

NP_000224.2

UniProt

P22888

PDB

1LUT, 1XUL