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

BARX2 Gene

protein-coding   GIFtS: 48
GCID: GC11P129279

BARX homeobox 2

(Previous name: BarH-like homeobox 2 )
  Search for BARX2
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Biological research products
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Aliases
for BARX2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
BARX Homeobox 21 2
BarH-Like Homeobox 21 2
Homeobox Protein BarH-Like 22

External Ids:    HGNC: 9561   Entrez Gene: 85382   Ensembl: ENSG000000430397   OMIM: 6048235   UniProtKB: Q9UMQ33   

Export aliases for BARX2 gene to outside databases

Previous GC identifers: GC11P131246 GC11P130758 GC11P128783 GC11P128751 GC11P125197


Summaries
for BARX2 gene

(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 BARX2:
This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been
shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast
fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. (provided by RefSeq, Jul
2008)

UniProtKB/Swiss-Prot: BARX2_HUMAN, Q9UMQ3
Function: Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the
expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and
peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By
similarity)




Genomic Views
for BARX2 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 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 BARX2 gene promoter:
         SRF   SRF (504 AA)   SEF-1 (1)   MyoD   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BARX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for BARX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BARX2


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

Entrez Gene cytogenetic band: 11q25   Ensembl cytogenetic band:  11q24.3   HGNC cytogenetic band: 11q24.3

BARX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BARX2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P129279:  view genomic region     (about GC identifiers)

Start:
 129,245,835 bp from pter      End:
 129,322,174 bp from pter
Size:
 76,340 bases      Orientation:
 plus strand

Proteins
for BARX2 gene

(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: BARX2_HUMAN, Q9UMQ3 (See protein sequence)
Recommended Name: Homeobox protein BarH-like 2  
Size: 279 amino acids; 31188 Da
Subcellular location: Nucleus
Sequence caution: Sequence=AAC04705.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAC04705.1; Type=Frameshift; Positions=11; Sequence=AAF09453.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=AAF09453.1; Type=Frameshift; Positions=11;
Secondary accessions: O43518 Q6NT51

Explore the universe of human proteins at neXtProt for BARX2: NX_Q9UMQ3

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UMQ3

    • BARX2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003649.2  
    ENSEMBL proteins: 
     ENSP00000281437   ENSP00000451113   ENSP00000450418  

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    Uscn Proteins for BARX2

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

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


    BARX2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for BARX2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BARX2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000047 HTH_motif
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR020479 Homeobox_metazoa
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9UMQ3

    ProtoNet protein and cluster: Q9UMQ3

    1 Blocks protein family: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: BARX2_HUMAN, Q9UMQ3
    Similarity: Belongs to the BAR homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for BARX2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: BARX2_HUMAN, Q9UMQ3
    Function: Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the
    expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and
    peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By
    similarity)

         Genatlas biochemistry entry for BARX2:
    Bar H-like homeobox 2,expressed in craniofacial structures during development

    miRNA
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003677DNA binding IDA10854790
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----


    BARX2 for ontologies           About GeneDecksing


    Animal Models:
         9 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Barx2):
     behavior/neurological  endocrine/exocrine gland  growth/size  integument  mortality/aging 
     muscle  pigmentation  skeleton  vision/eye 

    BARX2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BARX2 gene

    (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 BARX2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for BARX2 (Q9UMQ33 ENSP000002814374) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRFP118313, ENSP000002653544I2D: score=2 STRING: ENSP00000265354
    CREB1P162203, ENSP000003876994I2D: score=3 STRING: ENSP00000387699
    ATF2P153363I2D: score=2 
    FOSP011003I2D: score=2 
    JUNP054123I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001502cartilage condensation IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0014902myotube differentiation IEA--
    GO:0042637catagen IEA--


    BARX2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BARX2 gene

    (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 BARX2
    Search CenterWatch for drugs/clinical trials and news about BARX2 

    Transcripts
    for BARX2 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 BARX2 gene: 
    NM_003658.4  

    Unigene Cluster for BARX2:

    BARX homeobox 2
    Hs.591944  [show with all ESTs]
    Unigene Representative Sequence: NM_003658
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000281437(uc001qfc.4) ENST00000526127 ENST00000531946

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    hsa-miR-302d hsa-miR-520e hsa-miR-1321 hsa-miR-519a hsa-miR-105 hsa-miR-124 hsa-miR-372 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmid: BARX2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF031924.1 AJ243512.1 BC069378.1 BC111432.1 BC111572.1 

    2 DOTS entries:

    DT.40127734  DT.91818059 

    21 AceView cDNA sequences:

    AI823489 AI696665 AI370544 BC069378 NM_003658 AI675861 AI733496 AI792204 
    BG679733 BX096859 AF031924 AK022187 AI915798 AU121450 CD722863 AJ243512 
    BF476388 AA991537 BF511228 BF510404 AU147258 

    GeneLoc Exon Structure


    Expression
    for BARX2 gene

    (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

    BARX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTAGGGTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BARX2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbAutopodLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BARX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BARX2

    SOURCE GeneReport for Unigene cluster: Hs.591944

    UniProtKB/Swiss-Prot: BARX2_HUMAN, Q9UMQ3
    Tissue specificity: Highly expressed in adult salivary gland and at much lower levels in mammary gland, kidney and
    placenta

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    In Situ
    Assay Products:     
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    Orthologs
    for BARX2 gene

    (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 chordates.

    Orthologs for BARX2 gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves BARX21 BARX homeobox 2 75.48(n)
    80.08(a)    		   395714  NM_204896.1  NP_990227.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BARX26
    		 --
    		 68(a)
    		 1 ↔ 1
    		 GL343197.1(3835999-3845485)
    zebrafish
    (Danio rerio)    		 Actinopterygii barx21 BarH-like homeobox 2 68.61(n)
    70.82(a)    		   100002200  XM_001342008.3  XP_001342044.1 


    ENSEMBL Gene Tree for BARX2 (if available)
    TreeFam Gene Tree for BARX2 (if available) 

    Paralogs
    for BARX2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BARX2 gene
    DLX22  BARX12  BSX2  DLX52  DLX62  BARHL22  BARHL12  DLX42  
    DLX12  MSX22  MSX12  DLX32  
    10 SIMAP similar genes for BARX2 using alignment to 3 protein entries:     BARX2_HUMAN (see all proteins):
    NKX2-5    HOXA4    BARX1    HMX2    MNX1    HOXB1
    MEOX1    HLX    DLX1    DLX6

    BARX2 for paralogs           About GeneDecksing



    Genomic Variants
    for BARX2 gene

    (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

    10/1382 NCBI SNPs in BARX2 are shown (see all 1382)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs730249111,2
    		C,--129243975(+) GGCGTA/GTCCCT 1 -- us2k10--------
    rs1814864261,2
    		--129244032(+) CCGCGC/GCCACC 1 -- us2k10--------
    rs1162307841,2
    		--129244287(+) GCTGCC/TGGAGG 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1381292961,2
    		--129244606(+) GTTTTC/TATAAA 1 -- us2k10--------
    rs2001814491,2
    		--129244616(+) CAATG-/TTTTTA 1 -- us2k10--------
    rs1411483541,2
    		--129244620(+) GTTTT-/AAAAAA 1 -- us2k10--------
    rs1860263191,2
    		--129244621(+) GTTTTA/TAAAAA 1 -- us2k10--------
    rs1495642551,2
    		--129244629(+) AAAAAC/TCGCAC 1 -- us2k10--------
    rs1442658251,2
    		--129245031(+) TGAGGA/GTAACG 1 -- us2k10--------
    rs346140151,2
    		C--129245062(+) TGATTG/TGGGAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BARX2 (129245835 - 129322174 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BARX2: --

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    Disorders / Diseases
    for BARX2 gene

    (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
    BARX2 for disorders           About MalaCards

    BARX2 for disorders           About GeneDecksing

    OMIM gene information: 604823    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: BARX2 (1 document)

    Export disorders for BARX2 gene to outside databases

    Publications
    for BARX2 gene

    (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 BARX2 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with BARX2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms. (PubMed id 10644443)1, 2, 3 Hjalt T.A. and Murray J.C. (1999)
    2. Cloning and chromosomal localization of the human BARX2 homeobox protein gene. (PubMed id 10854790)1, 2 Krasner A.... Nelkin B.D. (2000)
    3. A genome-wide association search for type 2 diabetes g enes in African Americans. (PubMed id 22238593)1 Palmer N.D....Sladek R. (2012)
    4. Genome-wide association study in east Asians identifie s novel susceptibility loci for breast cancer. (PubMed id 22383897)1 Long J....Zheng W. (2012)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1 Jugessur A....Murray J.C. (2010)
    7. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Identification of novel binding elements and gene targets for the homeodomain protein BARX2. (PubMed id 14744868)1 Stevens T.A....Meech R. (2004)

    External Searches for BARX2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing BARX2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8538 HGNC: 956 AceView: BARX2 Ensembl:ENSG00000043039 euGenes: HUgn8538
    ECgene: BARX2 H-InvDB: BARX2

    Other Databases showing BARX2 gene

    (According to HUGE)
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    Specialized Databases showing BARX2 gene

    (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 BARX2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for BARX2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for BARX2 gene:
    Search GeneIP for patents involving BARX2

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