LHB: Polycystic Ovarian Syndrome Database

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LHB

Gene Information

SNPs

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

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

HGNC: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
Protein	ENSP00000497294

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs1800447	TTGTGGGACTTCAGAAGAGAGAAAGA	C/T	GTGGGCTGGACATCAAAGAAGGCCT	W28R	25111116
rs34349826	TTGTGGGACTTCAGAAGAGAGAAAGA	C/T	GTGGGCTGGACATCAAAGAAGGCCT	I35T	25111116

Gene Ontology (GO)

Show/Hide all(10 )

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

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

Pfam

Pfam Accession	Pfam ID
PF00007	Cys_knot

Pathways
	KEGG	Reactome
	Neuroactive ligand-receptor interaction GnRH signaling pathway Ovarian steroidogenesis Prolactin signaling pathway	Androgen biosynthesis Mineralocorticoid biosynthesis Glycoprotein hormones Hormone ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production Reactions specific to the complex N-glycan synthesis pathway

Interactions

STRING	MINT	IntAct
ENSP00000305852	P48230	P48230

View interactions

Associated Diseases

Show/Hide all(4 )

Disease group	Disease Name	References
Cardiovascular Diseases
Cardiovascular Diseases	Hypertensive disease	6350720
Endocrine System Diseases
	Hypogonadism	1727547, 18449926, 8263139, 15602022
	Hyperprolactinemia	6770916
	Isolated lutropin deficiency	17761593, 22723313, 15602022, 19890128, 429481, 1727547, 19126631
	Precocious Puberty	18345393
	PCOS	22209983
Neoplasms
	Ovarian Cancer	20378617, 11889176
	Leydig Cell Tumor	25289773
Reproductive disorders
	Subfertility, Female	9457942
	Male infertility	387166, 10739843, 15602022
	Preeclampsia	20541258

References

Show/Hide all(3)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
22209983			SNP in exon 3 (rs#1056917) of LH gene		Related	South-Indian-250 PCOS and 299 controls	The LH variants that are found to be more frequent among PCOS cases are silent in nature and not of any functional significance, they might influence other significant functional polymorphisms in the hypothalamic-pituitary-gonadal axis which needs to be explored.
19639500		PCOS			Related	50 PCOS, 30 controls	Women with the PCOS had significantly higher mean arterial pressure (MAP), serum TAG, LDL-C, insulin, and LH levels when compared with the age-matched control subjects
6220924					Related	40 (20 PCO, 10 chronic anovulation, 10 controls)	This data suggest that bioactive LH may be an important hormonal marker in the clinical diagnosis of PCO

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