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Aliases for FSHR Gene

Aliases for FSHR Gene

  • Follicle Stimulating Hormone Receptor 2 3
  • Follitropin Receptor 3 4
  • ODG1 3 6
  • LGR1 3 4
  • Follicle-Stimulating Hormone Receptor 3
  • FSH Receptor 3
  • FSHRO 3
  • FSH-R 4

External Ids for FSHR Gene

Previous HGNC Symbols for FSHR Gene

  • ODG1

Previous GeneCards Identifiers for FSHR Gene

  • GC02M049220
  • GC02M049358
  • GC02M049164
  • GC02M049101
  • GC02M049189
  • GC02M048923

Summaries for FSHR Gene

Entrez Gene Summary for FSHR Gene

  • 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]

GeneCards Summary for FSHR Gene

FSHR (Follicle Stimulating Hormone Receptor) is a Protein Coding gene. Diseases associated with FSHR include ovarian dysgenesis 1 and ovarian hyperstimulation syndrome. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include follicle-stimulating hormone receptor activity. An important paralog of this gene is LGR6.

UniProtKB/Swiss-Prot for FSHR Gene

  • Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase

Gene Wiki entry for FSHR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FSHR Gene

Genomics for FSHR Gene

Regulatory Elements for FSHR Gene

Genomic Location for FSHR Gene

Start:
48,962,157 bp from pter
End:
49,154,537 bp from pter
Size:
192,381 bases
Orientation:
Minus strand

Genomic View for FSHR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FSHR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSHR Gene

Proteins for FSHR Gene

  • Protein details for FSHR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23945-FSHR_HUMAN
    Recommended name:
    Follicle-stimulating hormone receptor
    Protein Accession:
    P23945
    Secondary Accessions:
    • A8K947
    • G5CBS7
    • G5E967
    • J3KQ00
    • Q05AH0
    • Q16225
    • Q4QRJ3
    • Q4ZFZ2
    • Q53RW2

    Protein attributes for FSHR Gene

    Size:
    695 amino acids
    Molecular mass:
    78265 Da
    Quaternary structure:
    • Interacts with ARRB2.

    Three dimensional structures from OCA and Proteopedia for FSHR Gene

    Alternative splice isoforms for FSHR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FSHR Gene

Proteomics data for FSHR Gene at MOPED

Post-translational modifications for FSHR Gene

  • N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity binding of hormone.
  • Glycosylation at Asn191, Asn199, Asn293, and Asn318
  • Modification sites at PhosphoSitePlus

Other Protein References for FSHR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for FSHR Gene

Domains for FSHR Gene

Gene Families for FSHR Gene

HGNC:
  • GTSHR :GPCR / Class A : Gonadotropin and TSH receptors
IUPHAR :

Suggested Antigen Peptide Sequences for FSHR Gene

Graphical View of Domain Structure for InterPro Entry

P23945

UniProtKB/Swiss-Prot:

FSHR_HUMAN :
  • P23945
Domain:
  • Contains 1 LRRNT domain.
Family:
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Similarity:
  • Contains 9 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with FSHR: view

Function for FSHR Gene

Molecular function for FSHR Gene

GENATLAS Biochemistry: follicle stimulating hormone receptor,G protein coupled receptor superfamily
UniProtKB/Swiss-Prot Function: Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase

Gene Ontology (GO) - Molecular Function for FSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity --
GO:0004963 follicle-stimulating hormone receptor activity IEA --
GO:0005515 protein binding IPI 15196694
GO:0008528 G-protein coupled peptide receptor activity IBA --
GO:0017046 peptide hormone binding --
genes like me logo Genes that share ontologies with FSHR: view
genes like me logo Genes that share phenotypes with FSHR: view

Animal Models for FSHR Gene

MGI Knock Outs for FSHR:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FSHR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for FSHR Gene

Localization for FSHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for FSHR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FSHR Gene COMPARTMENTS Subcellular localization image for FSHR gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2

Gene Ontology (GO) - Cellular Components for FSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0009986 cell surface --
GO:0016021 integral component of membrane TAS 9020851
genes like me logo Genes that share ontologies with FSHR: view

Pathways for FSHR Gene

genes like me logo Genes that share pathways with FSHR: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for FSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development --
GO:0001545 primary ovarian follicle growth IBA --
GO:0001932 regulation of protein phosphorylation --
GO:0003073 regulation of systemic arterial blood pressure --
GO:0007186 G-protein coupled receptor signaling pathway TAS 9020851
genes like me logo Genes that share ontologies with FSHR: view

Compounds for FSHR Gene

(5) Drugbank Compounds for FSHR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Choriogonadotropin alfa
  • CG-beta
177073-44-8 target binder
Follitropin beta
  • Follicle-stimulating hormone beta subunit
9002-68-0 target agonist
Menotropins
  • LH-B
61489-71-2 target binder
Suramin
  • Bayer 205
145-63-1 target antagonist
Urofollitropin
  • Follicle-stimulating hormone beta subunit
146479-72-3 target agonist

(3) IUPHAR Ligand for FSHR Gene

Ligand Type Action Affinity Pubmed IDs
FSH Agonist Full agonist 11.3
FSH deglycosylated alpha/beta Antagonist Antagonist 10
[125I]FSH (human) Agonist Full agonist

(39) Novoseek inferred chemical compound relationships for FSHR Gene

Compound -log(P) Hits PubMed IDs
fmpp 62.6 2
thiazolidinone 59.1 6
estradiol 55.5 8
testosterone 54 15
gnrh 51.9 5
genes like me logo Genes that share compounds with FSHR: view

Transcripts for FSHR Gene

mRNA/cDNA for FSHR Gene

Unigene Clusters for FSHR Gene

Follicle stimulating hormone receptor:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FSHR

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FSHR Gene

No ASD Table

Relevant External Links for FSHR Gene

GeneLoc Exon Structure for
FSHR
ECgene alternative splicing isoforms for
FSHR

Expression for FSHR Gene

mRNA expression in normal human tissues for FSHR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FSHR Gene

This gene is overexpressed in Testis (22.0) and Ovary (9.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FSHR Gene

SOURCE GeneReport for Unigene cluster for FSHR Gene Hs.1428

mRNA Expression by UniProt/SwissProt for FSHR Gene

P23945-FSHR_HUMAN
Tissue specificity: Sertoli cells and ovarian granulosa cells
genes like me logo Genes that share expressions with FSHR: view

In Situ Assay Products

Orthologs for FSHR Gene

This gene was present in the common ancestor of animals.

Orthologs for FSHR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FSHR 35
  • 99.33 (n)
  • 98.7 (a)
FSHR 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FSHR 35
  • 90.26 (n)
  • 89.87 (a)
FSHR 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FSHR 35
  • 90.85 (n)
  • 91.76 (a)
FSHR 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fshr 35
  • 86.38 (n)
  • 87.91 (a)
Fshr 16
Fshr 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FSHR 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 28 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Fshr 35
  • 87.41 (n)
  • 89.82 (a)
chicken
(Gallus gallus)
Aves FSHR 35
  • 73.51 (n)
  • 74.15 (a)
FSHR 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia fshr-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fshr 35
  • 68.05 (n)
  • 69.88 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12133 35
zebrafish
(Danio rerio)
Actinopterygii Dr.24986 35
fshr 35
  • 63.03 (n)
  • 59.02 (a)
fshr 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Lgr1 36
  • 28 (a)
OneToMany
rk 37
  • 32 (a)
Fsh 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea fshr-1 36
  • 20 (a)
OneToMany
C50H2.1 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for FSHR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FSHR Gene

ENSEMBL:
Gene Tree for FSHR (if available)
TreeFam:
Gene Tree for FSHR (if available)

Paralogs for FSHR Gene

Paralogs for FSHR Gene

Selected SIMAP similar genes for FSHR Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with FSHR: view

Variants for FSHR Gene

Sequence variations from dbSNP and Humsavar for FSHR Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs6165 drug-response, - 48,963,902(-) CTCAG(A/G)CTAGG missense, reference
rs6166 drug-response, - 48,962,782(-) CACCA(A/G)TGGTT missense, reference
rs6167 - 48,963,249(-) GACAG(C/G)CCTTT reference, missense
rs6168 -- 48,963,834(-) ATGAC(A/G)TACAC synonymous-codon, reference
rs759287 -- 48,970,545(-) ACTAA(C/T)ATTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FSHR Gene

Variant ID Type Subtype PubMed ID
nsv874007 CNV Loss 21882294
nsv874008 CNV Loss 21882294
nsv834003 CNV Loss 17160897
nsv874009 CNV Loss 21882294
esv2720037 CNV Deletion 23290073
esv2751895 CNV Loss 17911159
esv2667546 CNV Deletion 23128226
nsv523955 CNV Loss 19592680
nsv518852 CNV Loss 19592680
nsv817862 CNV Gain 17921354
esv259989 OTHER Complex 20981092
nsv874010 CNV Loss 21882294
nsv829208 CNV Gain 20364138
nsv2720 CNV Loss 18451855
dgv218n21 CNV Loss 19592680
nsv527059 CNV Gain 19592680
esv2720038 CNV Deletion 23290073
nsv214070 CNV Loss 16902084
dgv4113n71 CNV Loss 21882294
nsv817873 CNV Gain 17921354
esv28189 CNV Loss 19812545

Relevant External Links for FSHR Gene

HapMap Linkage Disequilibrium report
FSHR
Human Gene Mutation Database (HGMD)
FSHR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSHR Gene

Disorders for FSHR Gene

(3) OMIM Diseases for FSHR Gene (136435)

UniProtKB/Swiss-Prot

FSHR_HUMAN
  • Ovarian dysgenesis 1 (ODG1) [MIM:233300]: An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). {ECO:0000269 PubMed:10551778, ECO:0000269 PubMed:11889179, ECO:0000269 PubMed:12571157, ECO:0000269 PubMed:12915623, ECO:0000269 PubMed:7553856, ECO:0000269 PubMed:9769327, ECO:0000269 PubMed:9851774}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]: Disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis. {ECO:0000269 PubMed:12930927, ECO:0000269 PubMed:12930928, ECO:0000269 PubMed:15080154, ECO:0000269 PubMed:16278261, ECO:0000269 PubMed:17721928}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(56) Novoseek inferred disease relationships for FSHR Gene

Disease -log(P) Hits PubMed IDs
absolute infertility 87.8 1
xx gonadal dysgenesis 85.2 2
ovarian failure premature 83.6 20
ovarian dysgenesis 80.8 3
ovarian hyperstimulation syndrome 77.4 17

Relevant External Links for FSHR

Genetic Association Database (GAD)
FSHR
Human Genome Epidemiology (HuGE) Navigator
FSHR
genes like me logo Genes that share disorders with FSHR: view

Publications for FSHR Gene

  1. The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells. (PMID: 1301382) Kelton C.A. … Chappel S.C. (Mol. Cell. Endocrinol. 1992) 3 4 23
  2. Expression of recombinant human follicle-stimulating hormone receptor: species-specific ligand binding, signal transduction, and identification of multiple ovarian messenger ribonucleic acid transcripts. (PMID: 1322283) Tilly J.L. … Hsueh A.J. (Endocrinology 1992) 3 4 23
  3. Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10. (PMID: 7916967) Gromoll J. … Gudermann T. (J. Mol. Endocrinol. 1994) 3 4 23
  4. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. (PMID: 7553856) Aittomaeki K. … de la Chapelle A. (Cell 1995) 3 4 23
  5. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. (PMID: 8855829) AittomAoki K. … de la Chapelle A. (J. Clin. Endocrinol. Metab. 1996) 2 3 23

Products for FSHR Gene

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