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

    Gene ID: 2492, updated on 12-Sep-2021

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FSHR in Genome Data Viewer
    Location:
    2p16.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (48953161..49154527, complement)
    105.20201022 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 CTBP2 pseudogene 5 Neighboring gene microRNA 548ba Neighboring gene uncharacterized LOC107985810 Neighboring gene RNA, U6 small nuclear 439, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Dizygotic twins
    MedGen: C0220761 OMIM: 276400 GeneReviews: Not available
    Compare labs
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    GeneReviews: Not available
    Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
    GeneReviews: Not available
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    GeneReviews: Not available
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    GeneReviews: Not available
    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.
    GeneReviews: Not available
    Ovarian dysgenesis 1
    MedGen: C0949595 OMIM: 233300 GeneReviews: Not available
    Compare labs
    Ovarian hyperstimulation syndrome
    MedGen: C0085083 OMIM: 608115 GeneReviews: Not available
    Compare labs
    Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    enables follicle-stimulating hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 activation of adenylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    involved_in male gonad development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 signaling 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 integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_000145.4NP_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:2050
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:4871
      LRR_RI; leucine-rich repeat [structural motif]
      pfam00001
      Location:379626
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam12369
      Location:282349
      GnHR_trans; Gonadotropin hormone receptor transmembrane region
      pfam13855
      Location:72132
      LRR_8; Leucine rich repeat
    2. NM_181446.3NP_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:2050
      LRRNT; Leucine rich repeat N-terminal domain
      COG4886
      Location:93273
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:7296
      LRR_RI; leucine-rich repeat [structural motif]
      pfam00001
      Location:353600
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam12369
      Location:256323
      GnHR_trans; Gonadotropin hormone receptor transmembrane region
      pfam12799
      Location:120159
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:72132
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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_011532734.2XP_011531036.1  follicle-stimulating hormone receptor isoform X2

      Conserved Domains (4) summary
      sd00031
      Location:3861
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:136166
      LRR_RI; leucine-rich repeat [structural motif]
      pfam00001
      Location:302549
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam12369
      Location:205272
      GnHR_trans; Gonadotropin hormone receptor transmembrane region
    2. XM_011532733.2XP_011531035.1  follicle-stimulating hormone receptor isoform X1

      Conserved Domains (5) summary
      smart00013
      Location:2050
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:7296
      LRR_RI; leucine-rich repeat [structural motif]
      pfam00001
      Location:413660
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam12369
      Location:316383
      GnHR_trans; Gonadotropin hormone receptor transmembrane region
      pfam13306
      Location:61216
      LRR_5; Leucine rich repeats (6 copies)
    3. XM_011532736.2XP_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:115362
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam12369
      Location:1885
      GnHR_trans; Gonadotropin hormone receptor transmembrane region
    4. XM_011532735.2XP_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:115362
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam12369
      Location:1885
      GnHR_trans; Gonadotropin hormone receptor transmembrane region
    5. XM_011532740.1XP_011531042.1  follicle-stimulating hormone receptor isoform X4

      Conserved Domains (3) summary
      smart00013
      Location:1750
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:7296
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13306
      Location:61216
      LRR_5; Leucine rich repeats (6 copies)
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