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

Gene Information

Gene Symbol

FSHB

Aliases

HH24

Entrez Gene ID

2488

Gene Name

Follicle stimulating hormone subunit beta

Chromosomal Location

11p14.1

HGNC ID

3964

Summary

The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_008144.1

RefSeq mRNA

NM_000510.3, NM_000510.4, NM_001018080.3, NM_001382289.1

e!Ensembl

Gene	ENSG00000131808
Transcript	ENST00000254122, ENST00000417547, ENST00000533718
Protein	ENSP00000254122, ENSP00000416606, ENSP00000433424

SNPs

SNP	SNP ID	Associated disease	References
rs639403	rs639403	Central Precocious Puberty (CPP)	20869425

Gene Ontology (GO)

Show/Hide all(24 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006701	Biological process	Progesterone biosynthetic process	TAS	14557487
GO:0007179	Biological process	Transforming growth factor beta receptor signaling pathway	IEP	14557487
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IDA	24692546
GO:0007292	Biological process	Female gamete generation	TAS	8220432
GO:0007565	Biological process	Female pregnancy	TAS	8220432
GO:0008284	Biological process	Positive regulation of cell proliferation	NAS	20613903
GO:0009755	Biological process	Hormone-mediated signaling pathway	IBA	21873635
GO:0010469	Biological process	Regulation of signaling receptor activity	IDA	24692546
GO:0010893	Biological process	Positive regulation of steroid biosynthetic process	IDA	2494176
GO:0030335	Biological process	Positive regulation of cell migration	NAS	20613903
GO:0042699	Biological process	Follicle-stimulating hormone signaling pathway	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	NAS	20613903
GO:0005576	Cellular component	Extracellular region	NAS	14718574
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005615	Cellular component	Extracellular space	IDA	2494176, 24692546
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005737	Cellular component	Cytoplasm	IDA	14602737
GO:0016914	Cellular component	Follicle-stimulating hormone complex	IDA	2494176, 24692546
GO:0005179	Molecular function	Hormone activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	11222739, 15662415, 22802634
GO:0016913	Molecular function	Follicle-stimulating hormone activity	IBA	21873635
GO:0016913	Molecular function	Follicle-stimulating hormone activity	IDA	2494176, 24692546
GO:0016913	Molecular function	Follicle-stimulating hormone activity	IMP	11514332

Protein Information

Protein Name

Follitropin subunit beta, FSH-B, FSH-beta, follicle stimulating hormone beta subunit, follicle stimulating hormone, beta polypeptide, follitropin, beta chain

Function

Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:2494176, PubMed:24692546). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432).

Refseq Proteins

NP_000501.1, NP_001018090.1, NP_001369218.1

UniProt

P01225

PDB

1FL7, 1XWD, 4AY9, 4MQW