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

Gene Information

Gene Symbol

FSHR

Aliases

FSHR1, FSHRO, LGR1, ODG1

Entrez Gene ID

2492

Gene Name

Follicle stimulating hormone receptor

Chromosomal Location

2p16.3

HGNC ID

3969

Summary

The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

RefSeq DNA

NG_008146.1

RefSeq mRNA

NM_000145.4, NM_181446.3, NM_000145.3

e!Ensembl

Gene	ENSG00000170820
Transcript	ENST00000406846, ENST00000304421, ENST00000454032, ENST00000469138, ENST00000419927
Protein	ENSP00000384708, ENSP00000306780, ENSP00000415504, , ENSP00000405775

Gene Ontology (GO)

Show/Hide all(26 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IDA	24692546
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:0007283	Biological process	Spermatogenesis	TAS	9020851
GO:0007292	Biological process	Female gamete generation	TAS	9020851
GO:0008406	Biological process	Gonad development	TAS	9020851
GO:0008584	Biological process	Male gonad development	IBA	21873635
GO:0008584	Biological process	Male gonad development	IEP	17848411
GO:0008585	Biological process	Female gonad development	TAS	7553856
GO:0009755	Biological process	Hormone-mediated signaling pathway	IBA	21873635
GO:0010738	Biological process	Regulation of protein kinase A signaling	IMP	24058690
GO:0014068	Biological process	Positive regulation of phosphatidylinositol 3-kinase signaling	IMP	24058690
GO:0042699	Biological process	Follicle-stimulating hormone signaling pathway	IBA	21873635
GO:0042699	Biological process	Follicle-stimulating hormone signaling pathway	IDA	24692546
GO:0042699	Biological process	Follicle-stimulating hormone signaling pathway	IMP	11847099
GO:0070374	Biological process	Positive regulation of ERK1 and ERK2 cascade	IDA	24058690
GO:0071372	Biological process	Cellular response to follicle-stimulating hormone stimulus	IMP	11847099
GO:0005886	Cellular component	Plasma membrane	IDA	11847099
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0016021	Cellular component	Integral component of membrane	IDA	24692546
GO:0043235	Cellular component	Receptor complex	IDA	24692546
GO:0004963	Molecular function	Follicle-stimulating hormone receptor activity	IBA	21873635
GO:0004963	Molecular function	Follicle-stimulating hormone receptor activity	IDA	24692546
GO:0004963	Molecular function	Follicle-stimulating hormone receptor activity	IMP	11847099
GO:0005515	Molecular function	Protein binding	IPI	15196694, 17030088, 20600589
GO:0008528	Molecular function	G protein-coupled peptide receptor activity	IBA	21873635

Protein Information

Protein Name

Follicle-stimulating hormone receptor, FSH receptor, follitropin receptor

Function

G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690).

Refseq Proteins

NP_000136.2, NP_852111.2

UniProt

P23945

PDB

1XUN, 1XWD, 4AY9, 4MQW