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

Gene ID: 2492, updated on 2-Nov-2024

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; AllianceGenome:HGNC:3969
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
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Genomic context

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See FSHR in Genome Data Viewer
Location:
2p16.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (48962157..49154515, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (48958181..49150411, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (49189296..49381654, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374594 Neighboring gene elongin B pseudogene 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:49067851-49069050 Neighboring gene CTBP2 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15751 Neighboring gene NANOG hESC enhancer GRCh37_chr2:49289986-49290501 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:49307676-49308476 Neighboring gene microRNA 548ba Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:49402835-49403336 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 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. Poor ovarian response to gonadotrophin stimulation is associated with FSH receptor polymorphism. Achrekar SK, et al. Reprod Biomed Online, 2009 Apr. PMID 19400992
  2. The response to FSH treatment in oligozoospermic men depends on FSH receptor gene polymorphisms. Selice R, et al. Int J Androl, 2011 Aug. PMID 20569270
  3. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. Gu BH, et al. Int J Mol Med, 2010 Jul. PMID 20514429
  4. FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. Balkan M, et al. J Biomed Biotechnol, 2010. PMID 20454649, Free PMC Article
  5. Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome. Du J, et al. Mol Genet Metab, 2010 Jul. PMID 20399696

See all (346) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study.
    Title: Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study.
  2. Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.
    Title: Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.
  3. Ala307Thr variation modulates FSHR structure and impairs its binding affinity for FSH: Implications in polycystic ovarian syndrome.
    Title: Ala307Thr variation modulates FSHR structure and impairs its binding affinity for FSH: Implications in polycystic ovarian syndrome.
  4. Analyzing the Impact of FSHR Variants on Polycystic Ovary Syndrome-a Case-Control Study in Punjab.
    Title: Analyzing the Impact of FSHR Variants on Polycystic Ovary Syndrome-a Case-Control Study in Punjab.
  5. Exploring the expression and potential function of follicle stimulating hormone receptor in extragonadal cells related to abdominal aortic aneurysm.
    Title: Exploring the expression and potential function of follicle stimulating hormone receptor in extragonadal cells related to abdominal aortic aneurysm.
  6. Association between sequence variants in the FSHR gene and reproductive outcomes following IVF in predicted normoresponders.
    Title: Association between sequence variants in the FSHR gene and reproductive outcomes following IVF in predicted normoresponders.
  7. Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis.
    Title: Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis.
  8. The Effect of the Allelics of Ser680Asn Polymorphisms of Follicle-Stimulating Hormone Receptor Gene in IVF/ICSI Cycles: a Systematic Review and Meta-analysis.
    Title: The Effect of the Allelics of Ser680Asn Polymorphisms of Follicle-Stimulating Hormone Receptor Gene in IVF/ICSI Cycles: a Systematic Review and Meta-analysis.
  9. FSH receptor genotype and its influence on the results of donor ovarian stimulation using corifollitropin alfa.
    Title: FSH receptor genotype and its influence on the results of donor ovarian stimulation using corifollitropin alfa.
  10. The effect of polymorphisms in FSHR gene on late follicular phase progesterone and estradiol serum levels in predicted normoresponders.
    Title: The effect of polymorphisms in FSHR gene on late follicular phase progesterone and estradiol serum levels in predicted normoresponders.
Submit: New GeneRIF Correction See all GeneRIFs (287)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
EBI GWAS Catalog
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
EBI GWAS Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
EBI GWAS Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
EBI GWAS 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.
EBI GWAS Catalog
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
EBI GWAS 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
enables G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables follicle-stimulating hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables follicle-stimulating hormone receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables follicle-stimulating hormone receptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to follicle-stimulating hormone stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in female gamete generation TAS
Traceable Author Statement
more info
 PubMed 
involved_in female gonad development TAS
Traceable Author Statement
more info
 PubMed 
involved_in follicle-stimulating hormone signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in follicle-stimulating hormone signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in follicle-stimulating hormone signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in gonad development TAS
Traceable Author Statement
more info
 PubMed 
involved_in hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in male gonad development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in male gonad development IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein kinase A signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatogenesis TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of 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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NEW Try the new Transcript table

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
    A0A0A0MSC5, A0A1D5RMN4, A8K947, G5CBS7, G5E967, J3KQ00, P23945, Q05AH0, Q16225, Q4QRJ3, Q4ZFZ2, Q53RW2
    Related
    ENSP00000384708.2, ENST00000406846.7
    Conserved Domains (6) summary
    sd00033
    Location:48 → 71
    LRR_RI; leucine-rich repeat [structural motif]
    cd15360
    Location:363 → 637
    7tmA_FSH-R; follicle-stimulating hormone receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
    pfam01462
    Location:20 → 45
    LRRNT; Leucine rich repeat N-terminal domain
    pfam12369
    Location:282 → 349
    GnHR_trans; Gonadotropin hormone receptor transmembrane region
    pfam13306
    Location:57 → 194
    LRR_5; Leucine rich repeats (6 copies)
    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
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    48962157..49154515 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532733.3 → 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)

  2. XM_047443867.1 → XP_047299823.1  follicle-stimulating hormone receptor isoform X2

  3. XM_011532735.3 → XP_011531037.1  follicle-stimulating hormone receptor isoform X3

    See identical proteins and their annotated locations for XP_011531037.1

    UniProtKB/TrEMBL
    A0A0G3FIY1, T2HV29
    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_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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    48958181..49150411 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341258.1 → XP_054197233.1  follicle-stimulating hormone receptor isoform X1

  2. XM_054341259.1 → XP_054197234.1  follicle-stimulating hormone receptor isoform X2

  3. XM_054341260.1 → XP_054197235.1  follicle-stimulating hormone receptor isoform X3

    UniProtKB/TrEMBL
    B4DXB5

  4. XM_054341261.1 → XP_054197236.1  follicle-stimulating hormone receptor isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P23945.4 GenPept UniProtKB/Swiss-Prot:P23945

Gene LinkOut

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