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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FSHB Gene

protein-coding   GIFtS: 63
GCID: GC11P030210

Follicle Stimulating Hormone, Beta Polypeptide

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Follicle Stimulating Hormone, Beta Polypeptide1 2     Beta Chain1
Follicle-Stimulating Hormone Beta Subunit1 2 3     follitropin1
Follitropin Beta Chain2 3     Follitropin Subunit Beta2
FSH-B2 3     Follitropin, Beta Chain2
FSH-beta2 3     

External Ids:    HGNC: 39641   Entrez Gene: 24882   Ensembl: ENSG000001318087   OMIM: 1365305   UniProtKB: P012253   

Export aliases for FSHB gene to outside databases

Previous GC identifers: GC11P031850 GC11P031028 GC11P030292 GC11P030217 GC11P029945


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FSHB Gene:
The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic
gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit
and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In
conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative
splicing results in two transcript variants encoding the same protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for FSHB Gene: 
FSHB (follicle stimulating hormone, beta polypeptide) is a protein-coding gene. Diseases associated with FSHB include follicle-stimulating hormone deficiency, isolated, and pandas, and among its related super-pathways are GPCR ligand binding and Signaling by GPCR. GO annotations related to this gene include follicle-stimulating hormone activity and protein heterodimerization activity. An important paralog of this gene is TSHB.

UniProtKB/Swiss-Prot: FSHB_HUMAN, P01225
Function: Stimulates development of follicle and spermatogenesis in the reproductive organs

Gene Wiki entry for FSHB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FSHB gene promoter:
         Sox5   Nkx2-5   CREB   MEF-2A   SRY   deltaCREB   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFSHB promoter sequence
   Search SABiosciences Chromatin IP Primers for FSHB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FSHB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p14.1   HGNC cytogenetic band: 11p13

FSHB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FSHB gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P030210:  view genomic region     (about GC identifiers)

Start:
30,252,563 bp from pter      End:
30,256,824 bp from pter
Size:
4,262 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FSHB_HUMAN, P01225 (See protein sequence)
Recommended Name: Follitropin subunit beta precursor  
Size: 129 amino acids; 14700 Da
Subunit: Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to
thyrotropin, lutropin, follitropin and gonadotropin
Subcellular location: Secreted
3 PDB 3D structures from and Proteopedia for FSHB:
1FL7 (3D)        1XWD (3D)        4AY9 (3D)    
Secondary accessions: A2TF08 A5JVV3 Q14D61

Explore the universe of human proteins at neXtProt for FSHB: NX_P01225

Explore proteomics data for FSHB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01225

  • FSHB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FSHB Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000501.1  NP_001018090.1  

    ENSEMBL proteins: 
     ENSP00000254122   ENSP00000416606   ENSP00000433424  
    Reactome Protein details: P01225
    Human Recombinant Protein Products for FSHB: 
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    R&D Systems Recombinant & Natural Proteins for FSHB (FSH alpha/beta)
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    OriGene Purified Proteins for FSHB
    OriGene Protein Over-expression Lysate for FSHB
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    GenScript Custom Purified and Recombinant Proteins Services for FSHB
    Novus Biologicals FSHB Proteins
    Novus Biologicals FSHB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for FSHB
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005737cytoplasm IDA14602737

    FSHB for ontologies           About GeneDecksing



    FSHB Antibody Products: 
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    Novus Biologicals FSHB Antibodies
    Abcam antibodies for FSHB
    Browse Antibodies at Cloud-Clone Corp. 
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    LSBio Antibodies in human, mouse, rat for FSHB 

    Assay Products for FSHB: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ENDOLIG: Endogenous ligands

    3 InterPro protein domains:
     IPR018245 Gonadotropin_bsu_CS
     IPR001545 Gonadotropin_bsu
     IPR006208 Cys_knot

    Graphical View of Domain Structure for InterPro Entry P01225

    ProtoNet protein and cluster: P01225

    3 Blocks protein domains:
    IPB001545 Gonadotropin
    IPB002400 Growth factor cystine knot superfamily signature
    IPB006208 Cystine knot domain


    UniProtKB/Swiss-Prot: FSHB_HUMAN, P01225
    Similarity: Belongs to the glycoprotein hormones subunit beta family


    FSHB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FSHB_HUMAN, P01225
    Function: Stimulates development of follicle and spermatogenesis in the reproductive organs

         Genatlas biochemistry entry for FSHB:
    follicle stimulating hormone,beta polypeptide

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005179hormone activity TAS8220432
    GO:0005515protein binding IPI11222739
    GO:0016913follicle-stimulating hormone activity NAS--
    GO:0046982protein heterodimerization activity NAS--
         
    FSHB for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fshb):
     endocrine/exocrine gland  homeostasis/metabolism  reproductive system 

    FSHB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fshbtm1Zuk for FSHB

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FSHB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FSHB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FSHB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FSHB 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FSHB
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate FSHB:
    hsa-miR-140-5p hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidFSHB 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FSHB


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FSHB About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    Neuroactive ligand-receptor interaction0.37
    GPCR ligand binding0.71
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Glycoprotein hormones
    Glycoprotein hormones0.71
    Hormone ligand-binding receptors0.33
    Peptide hormone biosynthesis0.71
    4PKA activation in glucagon signalling
    Development Role of Activin A in cell differentiation and proliferation0.33
    Transcription CREM signaling in testis0.30
    5Integrin Pathway
    GnRH Signaling0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for FSHB
        Development Role of Activin A in cell differentiation and proliferation
    Selected targets of GCR-alpha
    Transcription CREM signaling in testis

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for FSHB
        GnRH Signaling

    2 GeneGo (Thomson Reuters) Pathways for FSHB
        Development Role of Activin A in cell differentiation and proliferation
    Transcription CREM signaling in testis

    1 BioSystems Pathway for FSHB
        FSH signaling pathway

    5/11        Reactome Pathways for FSHB (see all 11)
        GPCR downstream signaling
    Peptide hormone biosynthesis
    Signaling by GPCR
    GPCR ligand binding
    Class A/1 (Rhodopsin-like receptors)


    3         Kegg Pathways  (Kegg details for FSHB):
        Neuroactive ligand-receptor interaction
    GnRH signaling pathway
    Ovarian steroidogenesis


    FSHB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FSHB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/12 Interacting proteins for FSHB (P012251, 3 ENSP000002541224) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CGBP012333, ENSP000003499544I2D: score=1 STRING: ENSP00000349954
    CGB5P012333I2D: score=1 
    CGB7P012333I2D: score=1 
    CGB8P012333I2D: score=1 
    CGAP012151, 3, ENSP000003585954EBI-1030645,EBI-718913 I2D: score=4 STRING: ENSP00000358595
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development NAS--
    GO:0006701progesterone biosynthetic process TAS14557487
    GO:0007165signal transduction TAS8220432
    GO:0007179transforming growth factor beta receptor signaling pathway IEP14557487
    GO:0007283spermatogenesis NAS--

    FSHB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FSHB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FSHB

    UniProtKB/Swiss-Prot: FSHB_HUMAN, P01225
    Pharmaceutical: Available under the names Gonal-F or Metrodin HP (Serono) and Puregon (Organon). Used in the
    treatment of infertility in women with proven hypopituitarism or who have not responded to clomifene; or in
    superovulation treatment for assisted conception (such as in vitro fertilization). Metrodin HP is also used in
    the treatment of hypogonadotrophic hypogonadism in men for the stimulation of spermatogenesis

    10/21 Novoseek inferred chemical compound relationships for FSHB gene (see all 21)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gnrh 79.8 74 1730329 (4), 20008557 (4), 19787048 (3), 16141398 (3) (see all 31)
    ptx1 75.3 1 10859489 (1)
    organon 70.3 6 10632423 (1), 11406034 (1), 14520188 (1), 9457926 (1) (see all 6)
    ganirelix 69.7 9 12620447 (4), 14688163 (1), 11163814 (1)
    ribonucleic acid 59.1 2 1727723 (1), 8299592 (1)
    estradiol 55.2 4 16807382 (1), 15240592 (1)
    clomiphene citrate 43.4 1 9935125 (1)
    buserelin 35.2 2 10632423 (1), 11334903 (1)
    progesterone 34 9 1727723 (3), 7867558 (2)
    testosterone 33.7 9 1370794 (2), 11399484 (2), 7544877 (1), 1794614 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about FSHB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FSHB gene (2 alternative transcripts): 
    NM_000510.2  NM_001018080.1  

    Unigene Cluster for FSHB:

    Follicle stimulating hormone, beta polypeptide
    Hs.36975  [show with all ESTs]
    Unigene Representative Sequence: NM_000510
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254122 ENST00000417547(uc001msl.3 uc001msm.3 uc001msn.3)
    ENST00000533718
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate FSHB:
    hsa-miR-140-5p hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidFSHB 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FSHB

    Additional mRNA sequence: 

    BC113488.1 BC113490.1 EF585489.1 

    2 DOTS entries:

    DT.120746996  DT.306280 

    11 AceView cDNA sequences:

    CD105280 CD107377 CD108062 NM_000510 AV754501 AV754057 AV755146 CD556357 
    AV754300 BF949342 BQ340349 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FSHB expression in normal human tissues (normalized intensities)      FSHB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGATTCCTT
    FSHB Expression
    About this image


    FSHB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Neural Tube (Nervous System)
             Prosencephalon

     -- (Endocrine System)
             pituitary gland   

    See FSHB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FSHB

    SOURCE GeneReport for Unigene cluster: Hs.36975
        SABiosciences Custom PCR Arrays for FSHB
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FSHB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FSHB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FSHB gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fshb1 , 5 follicle stimulating hormone beta1, 5 85.01(n)1
    86.05(a)1
      2 (56.02 cM)5
    143081  NM_008045.21  NP_032071.11 
     1070561405 
    chicken
    (Gallus gallus)
    Aves FSHB1 follicle stimulating hormone, beta polypeptide 72.58(n)
    69.35(a)
      374108  NM_204257.1  NP_989588.1 
    lizard
    (Anolis carolinensis)
    Reptilia FSHB6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    1(59441433-59442657)
    zebrafish
    (Danio rerio)
    Actinopterygii fshb1 follicle stimulating hormone, beta polypeptide 55.09(n)
    47.37(a)
      402919  NM_205624.1  NP_991187.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gpb56
    Glycoprotein hormone beta 5
    14(a)
    1 → many
    2LHet(167215-167979)


    ENSEMBL Gene Tree for FSHB (if available)
    TreeFam Gene Tree for FSHB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FSHB gene
    TSHB2  CGB22  LHB2  CGB82  ENSG000002673352  CGB52  CGB2  CGB72  
    CGB12  
    9 SIMAP similar genes for FSHB using alignment to 3 protein entries:     FSHB_HUMAN (see all proteins):
    TSHB    CGB2    CGB1    CGB7    CGB8    CGB
    CGB5    GPHB5    LHB

    FSHB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FSHB
    PGOHUM00000242629


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/141 SNPs in FSHB are shown (see all 141)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs50307761,2,4
    CIsolated follicle-stimulating hormone deficiency (IFSHD)4 pathogenic130182587(+) AAACAT/GGTACC 4 /G /C mis12Minor allele frequency- G:0.00NA 4
    rs6546691,2
    C,F,A,H--30177993(-) CCACCA/GTGCCT 2 -- us2k16Minor allele frequency- G:0.07NA MN CSA 194
    rs1822377381,2
    --30177994(+) GGCATA/GGTGGC 2 -- us2k10--------
    rs1872670031,2
    C--30178013(+) GTAGTC/GTCAGG 2 -- us2k10--------
    rs1882222421,2
    C--30178176(+) TACCCA/GACATC 2 -- us2k10--------
    rs1472064751,2
    C--30178284(+) TTAAAC/TACATA 2 -- us2k10--------
    rs1405135261,2
    --30178287(+) AACACA/TTACCA 2 -- us2k10--------
    rs1807063931,2
    --30178288(+) ACACAC/TACCAA 2 -- us2k10--------
    rs1170142491,2
    C,F--30178293(+) TACCAA/GTCAGG 2 -- us2k11Minor allele frequency- G:0.03EA 120
    rs342244141,2
    C,F--30178466(+) GCTTTT/GGGGAC 2 -- us2k17Minor allele frequency- G:0.15NA WA CSA EA 365

    HapMap Linkage Disequilibrium report for FSHB (30252563 - 30256824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FSHB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv437712CNV Loss16327808


    Human Gene Mutation Database (HGMD): FSHB
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 136530   
    OMIM disorders: 229070  
    UniProtKB/Swiss-Prot: FSHB_HUMAN, P01225
  • Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]: Selective follicle-stimulating
    hormone deficiency is an uncommon cause of infertility, producing amenorrhea and hypogonadism in women and oligo
    or azoospermia with normal testosterone levels in normally virilised men. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/32 diseases for FSHB (see all 32):    About MalaCards
    follicle-stimulating hormone deficiency, isolated    pandas    hermaphroditism    conjunctivitis
    wagr syndrome    central precocious puberty    ovarian hyperstimulation syndrome    amenorrhea
    nephroblastoma    galactosemia    aniridia    precocious puberty
    anovulation    hypogonadotropism    polycystic ovary syndrome    pituitary adenoma
    hypogonadism    azoospermia    pituitary tumors    hypopituitarism

    2 diseases from the University of Copenhagen DISEASES database for FSHB:
    Aniridia     WAGR syndrome

    FSHB for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for FSHB gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian hyperstimulation syndrome 71.8 1 18230195 (1)
    gonadotropins increased 66.2 1 16959402 (1)
    pituitary adenoma nonfunctioning 62.8 1 1375599 (1)
    infertility 62.3 4 11299519 (2), 16730882 (1), 17227474 (1)
    puberty delayed 61.7 3 16730882 (1), 9271483 (1), 20067895 (1)
    pituitary adenoma 60.4 4 8881451 (3), 1902844 (1)
    primary amenorrhea 60.4 1 19966036 (1)
    pituitary tumors 56 2 1902844 (1), 1375599 (1)
    azoospermia 55.3 4 16730882 (1), 12568849 (1), 12161499 (1), 10864828 (1)
    hypogonadism 51.4 4 19966036 (1), 9271483 (1), 12568849 (1), 20067895 (1)

    Genatlas disease: FSHB
    delayed puberty,primary amenorrhea,infertility (FSH deficiency,isolated),hypogonadism in man

    Genetic Association Database (GAD): FSHB
    Human Genome Epidemiology (HuGE) Navigator: FSHB (9 documents)

    Export disorders for FSHB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FSHB gene, integrated from 9 sources (see all 213):
    (articles sorted by number of sources associating them with FSHB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A reevaluation of the amino acid sequence of human follitropin beta- subunit. (PubMed id 3151250)1, 2, 3 Shome B.... Ward D.N. (1988)
    2. DNA sequence and regional assignment of the human follicle- stimulating hormone beta-subunit gene to the short arm of human chromosome 11. (PubMed id 2885163)1, 2, 3 Watkins P.C.... Shows T.B. (1987)
    3. Association of AccI polymorphism in the follicle-stimulating hormone beta gene with polycystic ovary syndrome. (PubMed id 11119757)1, 4, 9 Tong Y....Ng S.C. (2000)
    4. Increased Prevalance of the -211 T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum F SH in infertile men. (PubMed id 19897680)1, 4, 9 Grigorova M....Laan M. (2010)
    5. Delayed puberty and hypogonadism caused by mutations in the follicle- stimulating hormone beta-subunit gene. (PubMed id 9271483)1, 2, 9 Layman L.C....Jameson J.L. (1997)
    6. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (2010)
    7. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolis m and breast cancer risk in the NCI breast and prostate cancer cohort consortiu m. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (2010)
    8. Quantitative trait loci predicting circulating sex st eroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3). (PubMed id 19574343)1, 4 Ahn J....Hayes R.B. (2009)
    9. Genes related to sex steroids, neural growth, and soc ial-emotional behavior are associated with autistic traits, empathy, and Asperg er syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (2009)
    10. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2488 HGNC: 3964 AceView: FSHB Ensembl:ENSG00000131808 euGenes: HUgn2488
    ECgene: FSHB Kegg: 2488 H-InvDB: FSHB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FSHB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FSHB
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=FSHB
    Wikipedia http://en.wikipedia.org/wiki/Follicle_stimulating_hormone

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FSHB gene:
    Search GeneIP for patents involving FSHB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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