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

Gene ID: 2492, updated on 3-May-2020

Summary

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Official Symbol
FSHRprovided by HGNC
Official Full Name
follicle stimulating hormone receptorprovided by HGNC
Primary source
HGNC:HGNC:3969
See related
Ensembl:ENSG00000170820 MIM:136435
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; FSHR1; 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]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all

Genomic context

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See FSHR in Genome Data Viewer
Location:
2p16.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (48953161..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 uncharacterized LOC105374594 Neighboring gene elongin B pseudogene 3 Neighboring gene CTBP2 pseudogene 5 Neighboring gene microRNA 548ba Neighboring gene uncharacterized LOC107985810 Neighboring gene RNA, U6 small nuclear 439, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The FSHR Expression in Head and Neck Squamous Cell Cancer. A Pilot Immunohistochemical Study. Olejar T, et al. Anticancer Res, 2020 Jan. PMID 31892586
  2. Effects of FSHR polymorphisms on premature ovarian insufficiency in human beings: a meta-analysis. Huang W, et al. Reprod Biol Endocrinol, 2019 Oct 19. PMID 31629411, Free PMC Article
  3. Molecular mechanism of FSHR expression induced by BMP15 in human granulosa cells. Shimizu K, et al. J Assist Reprod Genet, 2019 Jun. PMID 31079267,
  4. The N680S variant in the follicle-stimulating hormone receptor gene identifies hyperresponders to controlled ovarian stimulation. Nenonen HA, et al. Pharmacogenet Genomics, 2019 Jul. PMID 30829738, Free PMC Article
  5. Molecular dynamics simulation of the follicle-stimulating hormone receptor. Understanding the conformational dynamics of receptor variants at positions N680 and D408 from in silico analysis. Jardón-Valadez E, et al. PLoS One, 2018. PMID 30462715, Free PMC Article

See all (303) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Findings indicated that follicle stimulating hormone receptor (FSHR) rs6166 single nucleotide polymorphism may serve as a potential genetic biomarker of premature ovarian insufficiency (POI) in Asians, but not in other ethnicities.
    Title: Effects of FSHR polymorphisms on premature ovarian insufficiency in human beings: a meta-analysis.
  2. The proportion of women who developed ovarian hyperstimulation syndrome (OHSS) was 6% (n=36). None of the women who developed this condition had the homozygous serine variant. The N680S polymorphism in the FSHR was associated with the condition, Ptrend (genotype)=0.004 and Pallelic (alleles)=0.04.
    Title: The N680S variant in the follicle-stimulating hormone receptor gene identifies hyperresponders to controlled ovarian stimulation.
  3. FSHr is present on different benign or malignant mesenchymal and epithelial structures in head and neck squamous cancer.
    Title: The FSHR Expression in Head and Neck Squamous Cell Cancer. A Pilot Immunohistochemical Study.
  4. BMP15 induced FSHR expression in human granulosa cells through Smad and non-Smad pathways. This mechanism of FSHR induction by BMP15 may be utilized for controlling follicular growth.
    Title: Molecular mechanism of FSHR expression induced by BMP15 in human granulosa cells.
  5. we found that AhR and FSHR levels correlated with each other, and their common expression was associated with an unfavorable outcome.
    Title: Correlation of the Aryl Hydrocarbon Receptor with FSHR in Ovarian Cancer Patients.
  6. FSHR Ser680Asn gene polymorphisms, in the Greek population is similar in fertile and infertile women.
    Title: Combined study on the single nucleotide polymorphisms in the follicle-stimulating hormone receptor (Ser680Asn) and anti-Müllerian hormone receptor type II (-482A>G) as genetic markers in assisted reproduction.
  7. FSHR specific residues K589 and A590 in the EL3 of FSHR seem to be crucial for FSH-induced internalization and ERK phosphorylation
    Title: Extracellular loop 3 substitutions K589N and A590S in FSH receptor increase FSH-induced receptor internalization and along with S588T substitution exhibit impaired ERK1/2 phosphorylation.
  8. GWAS for neovascular age-related macular degeneration bilaterality found new genetic loci STON1-GTF2A1L/LHCGR/FSHR.
    Title: A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration.
  9. Dynamical network analysis confirmed that TMD helices 2 and 5 may share communication pathways in the functional FSHR variants, whereas no connectivity was detected in the dysfunctional mutants, indicating that the global dynamics of the FSHR was sensitive to mutations at amino acid residue 408, a key position apparently linked to misfolding
    Title: Molecular dynamics simulation of the follicle-stimulating hormone receptor. Understanding the conformational dynamics of receptor variants at positions N680 and D408 from in silico analysis.
  10. Women homozygous for S in both FSHR N680S and LHCGR N312S had approximately 40% higher chance of having a baby compared to those with other genetic variants.
    Title: Gonadotropin receptor variants are linked to cumulative live birth rate after in vitro fertilization.
Submit: New GeneRIF Correction See all GeneRIFs (246)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Dizygotic twins
MedGen: C0220761 OMIM: 276400 GeneReviews: Not available
Compare labs
Ovarian dysgenesis 1
MedGen: C0949595 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC141667, MGC141668

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
follicle-stimulating hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
follicle-stimulating hormone receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
follicle-stimulating hormone receptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
  
activation of adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cellular response to follicle-stimulating hormone stimulus IMP
Inferred from Mutant Phenotype
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 IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
follicle-stimulating hormone signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
follicle-stimulating hormone signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
gonad development TAS
Traceable Author Statement
more info
 PubMed 
hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
male gonad development IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
male gonad development IEP
Inferred from Expression Pattern
more info
 PubMed 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of protein kinase A signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
spermatogenesis TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
 PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
plasma membrane TAS
Traceable Author Statement
more info
  
receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
follicle-stimulating hormone receptor
Names
FSH receptor
follitropin receptor

NCBI Reference Sequences (RefSeq)

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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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000145.4 → NP_000136.2  follicle-stimulating hormone receptor isoform 1 precursor

    See identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A1D5RMN4
    Related
    ENSP00000384708.2, ENST00000406846.7
    Conserved Domains (5) summary
    smart00013
    Location:20 → 50
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:48 → 71
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:379 → 626
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam12369
    Location:282 → 349
    GnHR_trans; Gonadotropin hormone receptor transmembrane region
    pfam13855
    Location:72 → 132
    LRR_8; Leucine rich repeat

  2. NM_181446.3 → NP_852111.2  follicle-stimulating hormone receptor isoform 2 precursor

    See identical proteins and their annotated locations for 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
    ENSP00000306780.4, ENST00000304421.8
    Conserved Domains (7) summary
    smart00013
    Location:20 → 50
    LRRNT; Leucine rich repeat N-terminal domain
    COG4886
    Location:93 → 273
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:72 → 96
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:353 → 600
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam12369
    Location:256 → 323
    GnHR_trans; Gonadotropin hormone receptor transmembrane region
    pfam12799
    Location:120 → 159
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:72 → 132
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    48953161..49154527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532734.2 → XP_011531036.1  follicle-stimulating hormone receptor isoform X2

    Conserved Domains (4) summary
    sd00031
    Location:38 → 61
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:136 → 166
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:302 → 549
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam12369
    Location:205 → 272
    GnHR_trans; Gonadotropin hormone receptor transmembrane region

  2. XM_011532733.2 → XP_011531035.1  follicle-stimulating hormone receptor isoform X1

    Conserved Domains (5) summary
    smart00013
    Location:20 → 50
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:72 → 96
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00001
    Location:413 → 660
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam12369
    Location:316 → 383
    GnHR_trans; Gonadotropin hormone receptor transmembrane region
    pfam13306
    Location:61 → 216
    LRR_5; Leucine rich repeats (6 copies)

  3. XM_011532736.2 → XP_011531038.1  follicle-stimulating hormone receptor isoform X3

    See identical proteins and their annotated locations for XP_011531038.1

    Conserved Domains (2) summary
    pfam00001
    Location:115 → 362
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam12369
    Location:18 → 85
    GnHR_trans; Gonadotropin hormone receptor transmembrane region

  4. XM_011532735.2 → XP_011531037.1  follicle-stimulating hormone receptor isoform X3

    See identical proteins and their annotated locations for XP_011531037.1

    Conserved Domains (2) summary
    pfam00001
    Location:115 → 362
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam12369
    Location:18 → 85
    GnHR_trans; Gonadotropin hormone receptor transmembrane region

  5. XM_011532740.1 → XP_011531042.1  follicle-stimulating hormone receptor isoform X4

    Conserved Domains (3) summary
    smart00013
    Location:17 → 50
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:72 → 96
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13306
    Location:61 → 216
    LRR_5; Leucine rich repeats (6 copies)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P23945.3 GenPept UniProtKB/Swiss-Prot:P23945

Gene LinkOut

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