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FSHR follicle stimulating hormone receptor [ Homo sapiens (human) ]

Gene ID: 2492, updated on 7-Dec-2014
Official Symbol
FSHRprovided by HGNC
Official Full Name
follicle stimulating hormone receptorprovided by HGNC
Primary source
HGNC:HGNC:3969
See related
Ensembl:ENSG00000170820; HPRD:00639; MIM:136435; Vega:OTTHUMG00000129259
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LGR1; ODG1; FSHRO
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]
See FSHR in Epigenomics, MapViewer
Location:
2p21-p16
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (48962157..49154527, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (49189296..49381666, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 3 Neighboring gene C-terminal binding protein 2 pseudogene 5 Neighboring gene microRNA 548ba Neighboring gene ribosomal protein L7 pseudogene 13 Neighboring gene neurexin 1 Neighboring gene uncharacterized LOC101927089

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Dizygotic twins
MedGen: C0220761 OMIM: 276400 GeneReviews: Not available
Compare labs
Ovarian dysgenesis 1
MedGen: CN074196 OMIM: 233300 GeneReviews: Not available
Compare labs
Ovarian hyperstimulation syndrome
MedGen: C0085083 OMIM: 608115 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
NHGRI GWA Catalog
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
NHGRI GWA Catalog
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
NHGRI GWA Catalog
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
NHGRI GWA Catalog
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • FSH signaling pathway, organism-specific biosystem (from WikiPathways)
    FSH signaling pathway, organism-specific biosystemThe Follicle Stimulating Hormone (FSH) is an anterior pituitary gonadotropin belonging to the family of glycoprotein hormones that includes thyroid stimulating hormone (TSH), Leutinizing Hormone (LH)...
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
  • GPCRs, Other, organism-specific biosystem (from WikiPathways)
    GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
  • Hormone ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Hormone ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to hormone ligands are annotated here. The hormones follicle-stimulating hormone (FSH), luteinizing hormone (LH), thyroid-stimulating hormone (TSH) and hu...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
    Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
  • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
    Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Ovarian steroidogenesis, conserved biosystem (from KEGG)
    Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
    Peptide GPCRs, organism-specific biosystem
    Peptide GPCRs
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC141667, MGC141668

Gene Ontology Provided by GOA

Function Evidence Code Pubs
follicle-stimulating hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
female gamete generation TAS
Traceable Author Statement
more info
PubMed 
female gonad development TAS
Traceable Author Statement
more info
PubMed 
follicle-stimulating hormone signaling pathway IEA
Inferred from Electronic Annotation
more info
 
follicle-stimulating hormone signaling pathway TAS
Traceable Author Statement
more info
PubMed 
gonad development TAS
Traceable Author Statement
more info
PubMed 
male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
follicle-stimulating hormone receptor
Names
follicle-stimulating hormone receptor
FSH receptor
follitropin receptor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008146.1 

    Range
    4965..197335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_536

mRNA and Protein(s)

  1. NM_000145.3NP_000136.2  follicle-stimulating hormone receptor isoform 1 precursor

    See proteins identical to NP_000136.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC007189, AK292562, BC118548, BC125270, DB064473
    Consensus CDS
    CCDS1843.1
    UniProtKB/Swiss-Prot
    P23945
    Related
    ENSP00000384708, OTTHUMP00000159573, ENST00000406846, OTTHUMT00000251367
    Conserved Domains (4) summary
    pfam12369
    Location:282349
    GnHR_trans; Gonadotropin hormone receptor transmembrane region
    smart00013
    Location:2050
    LRRNT; Leucine rich repeat N-terminal domain
    pfam00001
    Location:385626
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam13855
    Location:72132
    LRR_8; Leucine rich repeat
  2. NM_181446.2NP_852111.2  follicle-stimulating hormone receptor isoform 2 precursor

    See proteins identical to NP_852111.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AC007189, AK292562, BC125270, DB064473
    Consensus CDS
    CCDS1844.2
    UniProtKB/Swiss-Prot
    P23945
    Related
    ENSP00000306780, OTTHUMP00000200511, ENST00000304421, OTTHUMT00000323858
    Conserved Domains (5) summary
    pfam12369
    Location:256323
    GnHR_trans; Gonadotropin hormone receptor transmembrane region
    smart00013
    Location:2050
    LRRNT; Leucine rich repeat N-terminal domain
    pfam00001
    Location:359600
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam12799
    Location:120159
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:72132
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    48962157..49154527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    49119818..49312179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    48923221..49115367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)