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Aliases for FSHR Gene

Aliases for FSHR Gene

  • Follicle Stimulating Hormone Receptor 2 3 5
  • Follitropin Receptor 3 4
  • LGR1 3 4
  • Follicle-Stimulating Hormone Receptor 3
  • 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 G alpha (s) signalling events and Ovarian steroidogenesis. 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 LHCGR.

UniProtKB/Swiss-Prot for FSHR Gene

  • Receptor for follicle-stimulating hormone or follitropin (PubMed:11847099, PubMed:24058690). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Induces cAMP production through the activation of PI3K-AKT and SRC-ERK1/2 signaling pathways (PubMed:24058690).

Gene Wiki entry for FSHR Gene

Additional gene information for FSHR Gene

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

Genomics for FSHR Gene

Regulatory Elements for FSHR Gene

Enhancers for FSHR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H049002 0.2 ENCODE 6.8 +151.4 151429 1 FSHR PIR49362 GC02M048952
GH02H049132 0.3 FANTOM5 1.7 +21.4 21372 0 FSHR PIR49342
GH02H049161 0.4 ENCODE 0.4 -7.8 -7823 0 ATF2 FSHR GC02P049202
GH02H049153 0.2 ENCODE 0.7 +0.2 167 2 FSHR PIR49342
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FSHR on UCSC Golden Path with GeneCards custom track

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

Genes around FSHR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSHR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • A0A0A0MSC5
    • 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

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.
  • Sulfated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FSHR Gene

Domains & Families for FSHR Gene

Gene Families for FSHR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Suggested Antigen Peptide Sequences for FSHR Gene

Graphical View of Domain Structure for InterPro Entry

P23945

UniProtKB/Swiss-Prot:

FSHR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
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 or follitropin (PubMed:11847099, PubMed:24058690). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Induces cAMP production through the activation of PI3K-AKT and SRC-ERK1/2 signaling pathways (PubMed:24058690).

Phenotypes From GWAS Catalog for FSHR Gene

Gene Ontology (GO) - Molecular Function for FSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004963 follicle-stimulating hormone receptor activity IEA,IMP 11847099
GO:0005515 protein binding IPI 15196694
GO:0008528 G-protein coupled peptide receptor activity IBA --
genes like me logo Genes that share ontologies with FSHR: view
genes like me logo Genes that share phenotypes with FSHR: view

Human Phenotype Ontology for FSHR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FSHR Gene

MGI Knock Outs for FSHR:

Animal Model Products

CRISPR Products

miRNA for FSHR Gene

miRTarBase miRNAs that target FSHR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FSHR
  • Applied Biological Materials Clones for FSHR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005622 intracellular IEA --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with FSHR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FSHR Gene

Pathways & Interactions for FSHR Gene

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

Gene Ontology (GO) - Biological Process for FSHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001545 primary ovarian follicle growth IBA --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0003073 regulation of systemic arterial blood pressure IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA,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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Urofollitropin Approved, Vet_approved Pharma binder, Target, agonist 0
Suramin Approved Pharma Antagonist, Target, antagonist 18
Choriogonadotropin alfa Approved Pharma binder, Target 0
Menotropins Approved Pharma binder, Target 65
Follitropin Approved Pharma Target, agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
FSH deglycosylated alpha/beta
Antagonist
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FSHR
  • Applied Biological Materials Clones for FSHR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for FSHR Gene

NURSA nuclear receptor signaling pathways regulating expression of FSHR Gene:

FSHR

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.

Evidence on tissue expression from TISSUES for FSHR Gene

  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FSHR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FSHR: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia FSHR 33 34
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia FSHR 33 34
  • 90.85 (n)
cow
(Bos Taurus)
Mammalia FSHR 33 34
  • 90.26 (n)
rat
(Rattus norvegicus)
Mammalia Fshr 33
  • 87.41 (n)
mouse
(Mus musculus)
Mammalia Fshr 33 16 34
  • 86.38 (n)
oppossum
(Monodelphis domestica)
Mammalia FSHR 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 28 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FSHR 33 34
  • 73.51 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 77 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fshr 33
  • 68.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia fshr-A 33
zebrafish
(Danio rerio)
Actinopterygii fshr 33 34
  • 63.03 (n)
Dr.24986 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12133 33
fruit fly
(Drosophila melanogaster)
Insecta Fsh 35
  • 35 (a)
rk 35
  • 32 (a)
Lgr1 34
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C50H2.1 35
  • 30 (a)
fshr-1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
Species where no ortholog for FSHR was found in the sources mined by GeneCards:
  • 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
rs28928870 Pathogenic, Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] 48,963,475(-) TTTCA(A/C/T)TGTCT reference, missense
rs28928871 Pathogenic, Ovarian hyperstimulation syndrome (OHSS) [MIM:608115] 48,963,122(-) CTAGT(A/G)ACACC reference, missense
VAR_018045 Ovarian dysgenesis 1 (ODG1) [MIM:233300]
VAR_018046 Ovarian dysgenesis 1 (ODG1) [MIM:233300]
VAR_018047 Ovarian dysgenesis 1 (ODG1) [MIM:233300]

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

Variant ID Type Subtype PubMed ID
dgv218n21 CNV loss 19592680
dgv3807n100 CNV loss 25217958
dgv6855n54 CNV loss 21841781
esv2667546 CNV deletion 23128226
esv2720037 CNV deletion 23290073
esv2720038 CNV deletion 23290073
esv2751895 CNV loss 17911159
esv2762554 CNV loss 21179565
esv28189 CNV loss 19812545
esv3303015 CNV tandem duplication 20981092
esv3583794 CNV loss 25503493
esv3590672 CNV loss 21293372
esv3590673 CNV loss 21293372
esv3590674 CNV gain 21293372
esv3590675 CNV loss 21293372
esv3590676 CNV loss 21293372
esv3892082 CNV loss 25118596
nsv1002793 CNV gain 25217958
nsv1004288 CNV loss 25217958
nsv1008909 CNV gain 25217958
nsv1114083 CNV deletion 24896259
nsv1135867 CNV deletion 24896259
nsv214070 CNV deletion 16902084
nsv2720 CNV deletion 18451855
nsv518852 CNV loss 19592680
nsv523955 CNV loss 19592680
nsv527059 CNV gain 19592680
nsv581791 CNV loss 21841781
nsv581792 CNV gain 21841781
nsv581795 CNV loss 21841781
nsv817862 CNV gain 17921354
nsv817873 CNV gain 17921354
nsv829208 CNV gain 20364138
nsv834003 CNV loss 17160897
nsv954243 CNV deletion 24416366
nsv998864 CNV loss 25217958
nsv999566 CNV loss 25217958

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

Human Gene Mutation Database (HGMD)
FSHR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSHR

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

Disorders for FSHR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ovarian hyperstimulation syndrome
  • secondary meig's syndrome
ovarian dysgenesis 1
  • premature ovarian failure, autosomal recessive
ovarian response to fsh stimulation
  • twinning, dizygotic
46xx sex reversal 1
  • 46,xx testicular disorder of sex development
amenorrhea
  • absence of menstruation
- elite association - COSMIC cancer census association via MalaCards
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, ECO:0000269 PubMed:24058690, ECO:0000269 PubMed:25581598}. 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. FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. (PMID: 20454649) Balkan M … Budak T (Journal of biomedicine & biotechnology 2010) 3 22 45 60
  2. Genetic variations of follicle stimulating hormone receptor are associated with polycystic ovary syndrome. (PMID: 20514429) Gu BH … Baek KH (International journal of molecular medicine 2010) 3 22 45 60
  3. Androgen, progesterone, and FSH receptor polymorphisms in ovarian cancer risk and outcome. (PMID: 19458022) Ludwig AH … Kupryjanczyk J (Endocrine-related cancer 2009) 3 22 45 60
  4. Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome. (PMID: 19403562) Valkenburg O … Laven JS (Human reproduction (Oxford, England) 2009) 3 22 45 60
  5. Follicle-stimulating hormone receptor polymorphism (Thr307Ala) is associated with variable ovarian response and ovarian hyperstimulation syndrome in Indian women. (PMID: 18321487) Achrekar SK … Mahale SD (Fertility and sterility 2009) 3 22 45 60

Products for FSHR Gene

  • Addgene plasmids for FSHR

Sources for FSHR Gene

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