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

BSX Gene

protein-coding   GIFtS: 37
GCID: GC11M122848

brain-specific homeobox

 Explore 3 diseases affiliated with
BSX via our new
 Human Malady Compendium 
Biological research products
for BSX
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Brain-Specific Homeobox1 2
BSX11 2 3 5
Brain Specific Homeobox2
Brain-Specific Homeobox Protein Homolog2

External Ids:    HGNC: 204501   Entrez Gene: 3902592   Ensembl: ENSG000001889097   OMIM: 6110745   UniProtKB: Q3C1V83   

Export aliases for BSX gene to outside databases

Previous GC identifers: GC11M122354 GC11M118791


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

UniProtKB/Swiss-Prot: BSH_HUMAN, Q3C1V8
Function: DNA binding protein that function as transcriptional activator. Is essentiel for normal postnatal growth and
nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory
behavior in the control of energy balance (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BSX gene promoter:
         E2F-4   E2F-3a   E2F-5   Sp1   NRSF form 1   E2F-2   NRSF form 2   HEN1   E2F   E2F-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for BSX

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


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

Entrez Gene cytogenetic band: 11q24.1   Ensembl cytogenetic band:  11q24.1   HGNC cytogenetic band: 11q24.1

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M122848:  view genomic region     (about GC identifiers)

Start:
122,848,278 bp from pter      End:
122,852,428 bp from pter
Size:
4,151 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BSH_HUMAN, Q3C1V8 (See protein sequence)
Recommended Name: Brain-specific homeobox protein homolog  
Size: 233 amino acids; 25933 Da
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for BSX: NX_Q3C1V8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q3C1V8

  • BSX Protein expression data from MOPED and PaxDb:    About this image 
    BSX Protein Expression
    REFSEQ proteins: NP_001091639.1  
    ENSEMBL proteins: 
     ENSP00000344285  

    Human Recombinant Protein Products for BSX: 
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    Uscn Proteins for BSX

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IEA--

    BSX for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BSX for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR020479 Homeobox_metazoa
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q3C1V8

    ProtoNet protein and cluster: Q3C1V8

    UniProtKB/Swiss-Prot: BSH_HUMAN, Q3C1V8
    Similarity: Belongs to the distal-less homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BSH_HUMAN, Q3C1V8
    Function: DNA binding protein that function as transcriptional activator. Is essentiel for normal postnatal growth and
    nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory
    behavior in the control of energy balance (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
         
    BSX for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bsx):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  integument  normal  other  reproductive system 

    BSX for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Bsxtm1Aoh for BSX
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BSX 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BSX

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007626locomotory behavior IEA--
    GO:0042755eating behavior IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--
    GO:0060056mammary gland involution IEA--

    BSX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BSX
    Search CenterWatch for drugs/clinical trials and news about BSX / BSH 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BSX gene: 
    NM_001098169.1  

    Unigene Cluster for BSX:

    Brain-specific homeobox
    Hs.449687  [show with all ESTs]
    Unigene Representative Sequence: NM_001098169
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000343035(uc010rzs.2)

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    Inhib. RNA
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    OriGene shRNA RFP: BSX
    OriGene siRNA: BSX
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    Clone
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    Additional cDNA sequence: AB231738.1 

    1 DOTS entry:

    DT.120713688 

    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

    BSX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCACACCCA
    BSX Expression
    About this image
    See BSX Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.449687
        SABiosciences Custom PCR Arrays for BSX

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    In Situ
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    (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 BSX gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves BSX1 brain-specific homeobox 76.33(n)
    78.79(a)
      395183  NM_204512.1  NP_989843.1 
    lizard
    (Anolis carolinensis)
    Reptilia BSX6
    --
    79(a)
    1 ↔ 1
    LGa(2979353-2985980)
    zebrafish
    (Danio rerio)
    Actinopterygii bsx1 brain specific homeobox 66.21(n)
    71.1(a)
      573364  NM_214727.1  NP_999892.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bsh6
    brain-specific homeobox
    19(a)
    1 ↔ 1
    2L(19765776-19769067)
    worm
    (Caenorhabditis elegans)
    Secernentea tab-16
    Touch ABnormal family member (tab-1)
    34(a)
    1 ↔ 1
    II(6803715-6804820)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BSX gene
    DLX22  BARX12  DLX52  DLX62  BARHL22  BARHL12  DLX42  BARX22  
    DLX12  MSX22  MSX12  DLX32  
    1 SIMAP similar gene for BSX using alignment to 1 protein entry:     BSH_HUMAN:
    MNX1

    BSX for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/109 NCBI SNPs in BSX are shown (see all 109    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79309741,2
    C,F,H--122847880(+) GATCTC/TGGCGG 1 -- ds500114Minor allele frequency- T:0.11NS EA NA WA 1814
    rs1467426671,2
    --122848072(+) TACTTC/GGGCTG 1 -- ds50010--------
    rs1815998531,2
    --122848097(+) GGACGA/GCGGAC 1 -- ds50010--------
    rs2011654841,2
    --122848339(+) ACTACC/TCTCCC 1 -- ds50010--------
    rs617372771,2
    C,F--122848366(+) AGCACG/TTGCGG 2 Q H mis12Minor allele frequency- T:0.00NS EU 1297
    rs617372761,2
    C--122848369(+) ACGTGC/AGGCCC 2 /P syn11Minor allele frequency- A:0.01NS 78
    rs1999529531,2
    --122848451(+) GCAGGA/CTCAGC 2 S I mis10--------
    rs116011891,2
    H--122848473(+) GGCGGG/TGGCGG 2 T P mis1 ese30--------
    rs1380249061,2
    C--122848519(+) GGCCCA/GTCTGG 2 D syn10--------
    rs2018026741,2
    C--122848541(+) CGTCTT/GGGCTT 2 /Q /P mis11Minor allele frequency- G:0.00EU 1323

    HapMap Linkage Disequilibrium report for BSX (122848278 - 122852428 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BSX
         1 CNV: 2959

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BSX for disorders           About GeneDecksing

    OMIM gene information: 611074    OMIM disorders: --

    3 diseases for BSX:    About MalaCards
    jacobsen syndrome    glomerulonephritis    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: BSX (1 document)

    Export disorders for BSX 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 BSX gene integrated from 9 sources:
    (articles sorted by number of sources associating them with BSX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Thirty new loci for age at menarche identified by a m eta-analysis of genome-wide association studies. (PubMed id 21102462)1 Elks C.E....Murray A. (2010)
    2. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). (PubMed id 18855024)1 Coldren C.D....Grossfeld P.D. (2009)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    4. Cloning and functional analysis of hypothalamic homeobox gene Bsx1a and its isoform, Bsx1b. (PubMed id 17353277)1 Chu H.Y. and Ohtoshi A. (2007)
    5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    6. Bsx, an evolutionary conserved Brain Specific homeoboX gene expressed in the septum, epiphysis, mammillary bodies and arcuate nucleus. (PubMed id 14678827)1 Cremona M....Broccoli V. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 390259 HGNC: 20450 Ensembl:ENSG00000188909 euGenes: HUgn390259 ECgene: BSX
    H-InvDB: BSX

    (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 BSX Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt085.shtml

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

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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     Regulatory tfbs in BSX promoter
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     BSX Proteins, Antibodies, CLIAs, and ELISAs
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    Sirion Biotech Customized:
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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