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

    Gene ID: 2492, updated on 7-May-2017
    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; 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; 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]
    Orthologs
    Location:
    2p16.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 C-terminal binding protein 2 pseudogene 5 Neighboring gene microRNA 548ba Neighboring gene uncharacterized LOC107985810 Neighboring gene RNA, U6 small nuclear 439, pseudogene

    • 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 Jun 15 11:32:44 2016

    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: 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
    • 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 ...
    • Follicle Stimulating Hormone (FSH) signaling pathway, organism-specific biosystem (from WikiPathways)
      Follicle Stimulating Hormone (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.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
      GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • 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
    G-protein coupled peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    follicle-stimulating hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    activation of adenylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    adenylate cyclase-activating G-protein coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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
     
    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 adenylate cyclase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    primary ovarian follicle growth IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of osteoclast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    follicle-stimulating hormone receptor
    Names
    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 RefSeqGene

      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 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, OTTHUMP00000159573, ENST00000406846.6, OTTHUMT00000251367
      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_181446.2NP_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, OTTHUMP00000200511, ENST00000304421.8, OTTHUMT00000323858
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 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)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

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