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Aliases for FSHR Gene

Aliases for FSHR Gene

  • Follicle Stimulating Hormone Receptor 2 3
  • Follitropin Receptor 3 4
  • LGR1 3 4
  • FSH Receptor 3
  • FSHR1 3
  • FSHRO 3
  • FSH-R 4
  • ODG1 3

External Ids for FSHR Gene

Previous HGNC Symbols for FSHR Gene

  • ODG1

Previous GeneCards Identifiers for FSHR Gene

  • GC02M049220
  • GC02M049358
  • GC02M049164
  • GC02M049101
  • GC02M049189
  • GC02M048923
  • GC02M048962

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 hyperstimulation syndrome and ovarian dysgenesis 1. Among its related pathways are Signaling by GPCR and cAMP signaling pathway. GO annotations related to this gene include G-protein coupled receptor activity and G-protein coupled peptide 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

Chromosome:
2
Start:
48,866,435 bp from pter
End:
49,154,537 bp from pter
Size:
288,103 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FSHR Gene

Antibody Products

No data available for DME Specific Peptides for FSHR Gene

Domains & Families for FSHR Gene

Gene Families for FSHR Gene

Suggested Antigen Peptide Sequences for FSHR Gene

Graphical View of Domain Structure for InterPro Entry

P23945

UniProtKB/Swiss-Prot:

FSHR_HUMAN :
  • Contains 1 LRRNT domain.
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
  • Contains 9 LRR (leucine-rich) repeats.
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

miRNA for FSHR Gene

miRTarBase miRNAs that target FSHR

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) , Transcription Factor Targets 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
cytoskeleton 1
nucleus 1

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 & Interactions 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

No data available for SIGNOR curated interactions for FSHR Gene

Drugs & Compounds for FSHR Gene

(31) Drugs for FSHR Gene - From: NovoSeek, PharmGKB, DGIdb, DrugBank, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Follitropin beta Approved Pharma binder, Target, agonist 0
Urofollitropin Approved Pharma binder, Target, agonist 0
Suramin Approved Pharma Activator, Target, antagonist 18
Choriogonadotropin alfa Approved Pharma binder, Target 0
Menotropins Approved Pharma binder, Target 25

(20) Additional Compounds for FSHR Gene - From: NovoSeek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
FSH deglycosylated alpha/beta
Antagonist
adenylate
Agarose
amide
Carbohydrates
genes like me logo Genes that share compounds with FSHR: view

Transcripts for FSHR Gene

mRNA/cDNA for FSHR Gene

(10) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FSHR Gene

Follicle stimulating hormone receptor:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

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

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 (x22.0) and Ovary (x9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FSHR: view

Protein tissue co-expression partners for FSHR Gene

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues for FSHR Gene

Orthologs for FSHR Gene

This gene was present in the common ancestor of animals.

Orthologs for FSHR Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia FSHR 35
  • 99.33 (n)
  • 98.7 (a)
FSHR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fshr 35
  • 87.41 (n)
  • 89.82 (a)
oppossum
(Monodelphis domestica)
Mammalia FSHR 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 28 (a)
ManyToMany
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
tropical clawed frog
(Silurana tropicalis)
Amphibia fshr 35
  • 68.05 (n)
  • 69.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia fshr-A 35
zebrafish
(Danio rerio)
Actinopterygii Dr.24986 35
fshr 35
  • 63.03 (n)
  • 59.02 (a)
fshr 36
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12133 35
fruit fly
(Drosophila melanogaster)
Insecta Fsh 37
  • 35 (a)
rk 37
  • 32 (a)
Lgr1 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C50H2.1 37
  • 30 (a)
fshr-1 36
  • 20 (a)
OneToMany
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

(3) 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/C/G)CTAGG missense, reference, intron-variant
rs6166 drug-response, - 48,962,782(-) CACCA(A/G)TGGTT missense, reference, intron-variant
rs6167 - 48,963,249(-) GACAG(A/C/G)CCTTT missense, reference, intron-variant
rs6168 -- 48,963,834(-) ATGAC(A/G/T)TACAC synonymous-codon, reference, intron-variant
rs733725 -- 48,870,497(-) TATTG(C/T)AGCAC 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

Variation tolerance for FSHR Gene

Residual Variation Intolerance Score: 5.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.93; 89.83% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(25) MalaCards diseases for FSHR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
ovarian hyperstimulation syndrome
  • secondary meig's syndrome
ovarian dysgenesis 1
  • perrault syndrome
ovarian response to fsh stimulation
amenorrhea
  • amenorrhoea
ovarian mucinous cystadenocarcinoma
  • mucinous cystadenocarcinoma of ovary
- elite association
Search FSHR in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for FSHR

Genetic Association Database (GAD)
FSHR
Human Genome Epidemiology (HuGE) Navigator
FSHR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FSHR
genes like me logo Genes that share disorders with FSHR: view

No data available for Genatlas for FSHR Gene

Publications for FSHR Gene

  1. Follicle stimulating hormone receptor (FSHR) antagonist and epithelial ovarian cancer (EOC). (PMID: 17552360) Bose C.K. (J. Exp. Ther. Oncol. 2007) 23 25 26 67
  2. Follitropin receptors contain cryptic ligand binding sites. (PMID: 17059863) Lin W. … Moyle W.R. (Mol. Cell. Endocrinol. 2007) 23 25 67
  3. Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans. (PMID: 11299519) Layman L.C. (Semin. Reprod. Med. 2000) 23 25 67
  4. A synthetic peptide corresponding to human FSH beta-subunit 33-53 binds to FSH receptor, stimulates basal estradiol biosynthesis, and is a partial antagonist of FSH. (PMID: 2108722) Santa Coloma T.A. … Reichert L.E. (Biochemistry 1990) 23 25 67
  5. Primate FSH-receptor promoter nucleotide sequence heterogeneity affects FSH-receptor transcription. (PMID: 20034540) Brune M. … Gromoll J. (Mol. Cell. Endocrinol. 2010) 23 67

Products for FSHR Gene

Sources for FSHR Gene

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