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

Gene ID: 2492, updated on 17-Jun-2019

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

Genomic context

See FSHR in Genome Data Viewer
Location:
2p16.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 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 C-terminal binding protein 2 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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

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
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 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 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

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

NCBI Reference Sequences (RefSeq)

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, ENST00000406846.6
    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 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_011532734.2XP_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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