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DBX2 Gene

protein-coding   GIFtS: 44
GCID: GC12M045408

Developing Brain Homeobox 2

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Developing Brain Homeobox 21 2
Developing Brain Homeobox Protein 22 3
Homeobox Protein DBX22

External Ids:    HGNC: 331861   Entrez Gene: 4400972   Ensembl: ENSG000001856107   UniProtKB: Q6ZNG23   

Export aliases for DBX2 gene to outside databases

Previous GC identifers: GC12M043697 GC12M042436


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DBX2 Gene:
DBX2 (developing brain homeobox 2) is a protein-coding gene. Diseases associated with DBX2 include endotheliitis. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HLX.

Gene Wiki entry for DBX2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the DBX2 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   YY1   PPAR-gamma1   POU2F1   POU2F1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDBX2 promoter sequence
   Search Chromatin IP Primers for DBX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DBX2


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

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12q12

DBX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DBX2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M045408:  view genomic region     (about GC identifiers)

Start:
45,408,455 bp from pter      End:
45,444,882 bp from pter
Size:
36,428 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DBX2_HUMAN, Q6ZNG2 (See protein sequence)
Recommended Name: Homeobox protein DBX2  
Size: 339 amino acids; 36555 Da

Explore the universe of human proteins at neXtProt for DBX2: NX_Q6ZNG2

Explore proteomics data for DBX2 at MOPED


See DBX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001004329.2  
ENSEMBL proteins: 
 ENSP00000331470  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
NKL: Homeoboxes / ANTP class : NKL subclass

5 InterPro protein domains:
 IPR020479 Homeobox_metazoa
 IPR000047 HTH_motif
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q6ZNG2

ProtoNet protein and cluster: Q6ZNG2

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

UniProtKB/Swiss-Prot: DBX2_HUMAN, Q6ZNG2
Similarity: Belongs to the H2.0 homeobox family
Similarity: Contains 1 homeobox DNA-binding domain


DBX2 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
GO:0003677DNA binding ----
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding ----
     
DBX2 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for DBX2:
 Decreased POU5F1-GFP protein e 

Animal Models:
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hsa-miR-1287 hsa-miR-494 hsa-miR-627 hsa-miR-520g hsa-miR-590-3p
SwitchGear 3'UTR luciferase reporter plasmidDBX2 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
DBX2_HUMAN, Q6ZNG2: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

DBX2 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DBX2
Interactions:

    Search GeneGlobe Interaction Network for DBX2

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006355regulation of transcription, DNA-templated ----

DBX2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for DBX2



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DBX2 gene: 
NM_001004329.2  

Unigene Cluster for DBX2:

Developing brain homeobox 2
Hs.302764  [show with all ESTs]
Unigene Representative Sequence: AK131230
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000332700(uc001rok.1)
miRNA
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5 qRT-PCR Assays for microRNAs that regulate DBX2:
hsa-miR-1287 hsa-miR-494 hsa-miR-627 hsa-miR-520g hsa-miR-590-3p
SwitchGear 3'UTR luciferase reporter plasmidDBX2 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat DBX2

Additional mRNA sequence: AK131230.1 

1 DOTS entry:

DT.40192261 

3 AceView cDNA sequences:

BF939451 AK131230 NM_001004329 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DBX2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATCTTTTACT
DBX2 Expression
About this image


DBX2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Endothelium (Cardiovascular System)    fully expand to see all 2 entries
         Adult Endothelial Cells Blood Brain Barrier
 
 Brain (Nervous System)    fully expand to see all 2 entries
         Adult Endothelial Cells Blood Brain Barrier
 
 Smooth Muscle (Muscoskeletal System)
         Juxtaglomerular Cells Afferent Arteriole
 
 Kidney (Urinary System)
         Juxtaglomerular Cells Afferent Arteriole
 
 Spinal Cord (Nervous System)
DBX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DBX2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.302764
    Custom PCR Arrays for DBX2
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DBX2

(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)
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This gene was present in the common ancestor of animals.

Orthologs for DBX2 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Dbx21 , 5 developing brain homeobox 21, 5 79.19(n)1
76.75(a)1
  15 (50.47 cM)5
2238431  NM_207533.21  NP_997416.21 
 956235635 
chicken
(Gallus gallus)
Aves DBX21 developing brain homeobox 2 77.74(n)
78.18(a)
  417801  NM_001276354.1  NP_001263283.1 
lizard
(Anolis carolinensis)
Reptilia DBX26
developing brain homeobox 2
84(a)
1 ↔ 1
5(53952563-53955723)
tropical clawed frog
(Xenopus tropicalis)
Amphibia dbx21 developing brain homeobox 2 63.73(n)
61.11(a)
  100489622  XM_002932821.1  XP_002932867.1 
zebrafish
(Danio rerio)
Actinopterygii dbx26
developing brain homeobox 2
43(a)
1 ↔ 1
Zv9_scaffold3556(4519-13947) ENSDARG00000039510
fruit fly
(Drosophila melanogaster)
Insecta Dbx6
Dbx
13(a)
1 ↔ 1
3L(1921307-1933603)


ENSEMBL Gene Tree for DBX2 (if available)
TreeFam Gene Tree for DBX2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DBX2 gene
HLX2  DBX12  HHEX2  
7 SIMAP similar genes for DBX2 using alignment to 1 protein entry:     DBX2_HUMAN:
HMX2    HOXB1    HOXC13    DLX3    HLX    HOXA4
DUX2

DBX2 for paralogs           About GeneDecksing



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for DBX2 (see all 866)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs720293131,2
C--42461435(+) GAAGG-/TATATATATA
TATATATATATA
TATAT
1 -- int10--------
rs12244461,2
C,F,O,A,H--45408068(-) AGAAGA/CTTTAC 1 -- ds500118Minor allele frequency- N:0.00MN EA NA WA CSA 779
rs714592921,2
C,F--45408187(+) AGATTC/ACAAGA 1 -- ds50014Minor allele frequency- A:0.12NA 126
rs1420629051,2
C--45408225(+) TCCCAC/TTTATT 1 -- ds50010--------
rs1501029571,2
--45408293(+) GGTAAA/CAGGAA 1 -- ds50010--------
rs582166941,2
C,F--45408316(+) TTACCG/ATCTAC 1 -- ds50011Minor allele frequency- A:0.50WA 2
rs743921131,2
F--45408365(+) CCACCC/GTAAAT 1 -- ds50011Minor allele frequency- G:0.07WA 118
rs1873116821,2
--45408396(+) CATAGA/GAAGTA 1 -- ds50010--------
rs1918453521,2
--45408482(+) TTTTAA/GCTTTT 1 -- ds50010--------
rs732755601,2
C,F--45408511(+) CCATTC/GCCCAC 1 -- ds50012Minor allele frequency- G:0.15WA 120

HapMap Linkage Disequilibrium report for DBX2 (45408455 - 45444882 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for DBX2:    About this table    
Variant IDTypeSubtypePubMed ID
esv2404363CNV Deletion18987734
esv2745836CNV Deletion23290073
esv2745840CNV Deletion23290073
esv2745839CNV Deletion23290073
esv2745838CNV Deletion23290073
esv2745837CNV Deletion23290073
esv270692CNV Insertion20981092
esv273643CNV Insertion20981092
esv1534356CNV Insertion17803354
esv1002864CNV Insertion20482838

Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for DBX2:    
About MalaCards
endotheliitis


DBX2 for disorders           About GeneDecksing

Genetic Association Database (GAD): DBX2
Human Genome Epidemiology (HuGE) Navigator: DBX2 (1 document)

Export disorders for DBX2 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)
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PubMed articles for DBX2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DBX2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. Control of interneuron fate in the developing spinal cord by the progenitor homeodomain protein Dbx1. (PubMed id 11239429)1, 3 Pierani A....Jessell T.M. (Neuron 2001)
  3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 440097 HGNC: 33186 AceView: FLJ16139 Ensembl:ENSG00000185610 euGenes: HUgn440097
ECgene: DBX2 H-InvDB: DBX2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for DBX2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for DBX2 gene:
Search GeneIP for patents involving DBX2

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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