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

Gene Information

Gene Symbol

LHB

Aliases

CGB4, HH23, LSH-B, LSH-beta

Entrez Gene ID

3972

Gene Name

Luteinizing hormone subunit beta

Chromosomal Location

19q13.33

HGNC ID

6584

Summary

This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_011464.1

RefSeq mRNA

NM_000894.2, NM_000894.3

e!Ensembl

Gene	ENSG00000104826
Transcript	ENST00000649238, ENST00000649284
Protein	ENSP00000497294,

SNPs

SNP	SNP ID	Associated disease	References
rs2287756	rs2287756	Central Precocious Puberty (CPP)	20869425
rs2387590	rs2387590	Central Precocious Puberty (CPP)	20869425
rs3752210	rs3752210	Central Precocious Puberty (CPP)	20869425
rs1960072	rs1960072	Central Precocious Puberty (CPP)	20869425

Gene Ontology (GO)

Show/Hide all(11 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006701	Biological process	Progesterone biosynthetic process	TAS	14557487
GO:0007165	Biological process	Signal transduction	TAS	10484773
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007267	Biological process	Cell-cell signaling	TAS	10484773
GO:0008584	Biological process	Male gonad development	TAS	6785294
GO:0009755	Biological process	Hormone-mediated signaling pathway	IBA	21873635
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005102	Molecular function	Signaling receptor binding	TAS	10484773
GO:0005179	Molecular function	Hormone activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	32296183

Protein Information

Protein Name

Lutropin subunit beta, interstitial cell stimulating hormone, beta chain, luteinizing hormone beta polypeptide, luteinizing hormone beta subunit, lutropin beta chain

Function

Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids

Refseq Proteins

NP_000885.1

UniProt

P01229

PDB

1M92