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    PBX2 pre-B-cell leukemia homeobox 2 [ Homo sapiens ]

    Gene ID: 5089, updated on 11-May-2012
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    Summary

    Official Symbol
    PBX2provided by HGNC
    Official Full Name
    pre-B-cell leukemia homeobox 2provided by HGNC
    Primary source
    HGNC:8633
    Locus tag
    DAAP-218M18.5
    See related
    Ensembl:ENSG00000204304; HPRD:08890; MIM:176311; Vega:OTTHUMG00000031116
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G17; HOX12; PBX2MHC
    Summary
    This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    6p21.3
    Sequence :
    Chromosome: 6; NC_000006.11 (32152510..32157963, complement)
    See PBX2 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 5, E3 ubiquitin protein ligase Neighboring gene advanced glycosylation end product-specific receptor Neighboring gene G-protein signaling modulator 3 Neighboring gene notch 4 Neighboring gene chromosome 6 open reading frame 10 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    2. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. Ucisik-Akkaya E, et al. Mol Hum Reprod, 2010 Oct. PMID 20587610.
    3. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. Ban HJ, et al. BMC Genet, 2010 Apr 23. PMID 20416077.
    4. Expression level of Pre B cell leukemia homeobox 2 correlates with poor prognosis of gastric adenocarcinoma and esophageal squamous cell carcinoma. Qiu Y, et al. Int J Oncol, 2010 Mar. PMID 20126986.
    5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121.

    See all (27) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Pre B cell leukemia homeobox 2 has a role in poor prognosis of gastric adenocarcinoma and esophageal squamous cell carcinoma
      Title: Expression level of Pre B cell leukemia homeobox 2 correlates with poor prognosis of gastric adenocarcinoma and esophageal squamous cell carcinoma.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
    5. Expression levels of PBX2 and VCP were immunohistochemically examined and compared with each other in 206 non-small cell lung cancer cases
      Title: Prognostic significance of pre B cell leukemia transcription factor 2 (PBX2) expression in non-small cell lung carcinoma.
    6. PBX2 expression pattern is similar to HOXA7 expression in ovarian follicular development
      Title: HOX cofactors expression and regulation in the human ovary.
    7. a PBX2 Regulatory Element PRE-1048 has been identified which contains a novel DNA-binding sequence and mediates significant activation of the HOX11 gene in K562 cells.
      Title: A complex containing PBX2 contributes to activation of the proto-oncogene HOX11.
    8. these studies demonstrate that the homeodomain proteins, MEIS1, PBX1B, and PBX2, play an important role in megakaryocytic gene expression.
      Title: Homeodomain proteins MEIS1 and PBXs regulate the lineage-specific transcription of the platelet factor 4 gene.
    9. PBX2 increases in F9 teratocarcinoma cells because PREP-1 prevents its degradation
      Title: Overexpression of PREP-1 in F9 teratocarcinoma cells leads to a functionally relevant increase of PBX-2 by preventing its degradation.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P40425 Q9UQB8 BAIAP2    HPRD  PubMed  
    P40425 P78537 BLOC1S1    HPRD  PubMed  
    P40425 Coiled-coil domain containing 88B CCDC88B    HPRD  PubMed  
    P40425 Hypothetical protein MGC16385 CENPBD1    HPRD  PubMed  
    P40425 Q7L5N1 COPS6    HPRD  PubMed  
    P40425 O75935 DCTN3    HPRD  PubMed  
    P40425 P31269 HOXA9    HPRD  PubMed  
    P40425 P17481 HOXB8    HPRD  PubMed  
    P40425 O95163 IKBKAP    HPRD  PubMed  
    P40425 Q96EZ8 MCRS1    HPRD  PubMed  
    P40425 P37198 NUP62    HPRD  PubMed  
    P40425 P40424 PBX1    HPRD  PubMed  
    P40425 P40425 PBX2    HPRD  PubMed  
    P40425 P55347 PKNOX1    HPRD  PubMed  
    P40425 P36578 RPL4    HPRD  PubMed  
    P40425 Q96S38 RPS6KC1    HPRD  PubMed  
    P40425 P42285 SKIV2L2    HPRD  PubMed  
    P40425 Q9H7B4 SMYD3    HPRD  PubMed  
    P40425 P51965 UBE2E1    HPRD  PubMed  
    P40425 Q9NXF8 ZDHHC7    HPRD  PubMed  
    BioGRID:111122 BioGRID:109445 HOXA9    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
    		  
    proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    pre-B-cell leukemia transcription factor 2
    Names
    pre-B-cell leukemia transcription factor 2
    homeobox 12
    homeobox protein PBX2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002586.4 → NP_002577.2  pre-B-cell leukemia transcription factor 2

      Status: REVIEWED

      Source sequence(s)
      BC082261, BQ182713, DB162975, X59842
      Consensus CDS
      CCDS4748.1
      UniProtKB/Swiss-Prot
      P40425
      Related
      ENSP00000364190, OTTHUMP00000029151, ENST00000375050, OTTHUMT00000076194
      Conserved Domains (2) summary
      cd00086
      Location:245 – 305
      Blast Score: 160
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:50 – 243
      Blast Score: 818
      PBC; PBC domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      32152510..32157963, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.1 Reference GRCh37.p5 ALT_REF_LOCI_1

      Range
      3467251..3472701, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p5 ALT_REF_LOCI_2

      Range
      3623191..3628641, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.1 Reference GRCh37.p5 ALT_REF_LOCI_4

      Range
      3495334..3500784, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.1 Reference GRCh37.p5 ALT_REF_LOCI_5

      Range
      3532337..3537787, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p5 ALT_REF_LOCI_6

      Range
      3413530..3418981, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.1 Reference GRCh37.p5 ALT_REF_LOCI_7

      Range
      3500238..3505689, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      31906708..31912158, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL662830.14 (8372..13822) None
    genomic AL662884.11 (97558..103011) None
    genomic AL845464.5 CAI41814.1
    genomic BX284686.9 CAM26228.1
    genomic BX927239.5 CAQ06600.1
    genomic CH471081.1 EAX03613.1
      EAX03622.1
    genomic CR812478.6 CAQ10704.1
    genomic CR933878.7 CAQ09629.1
    genomic D28769.1 BAA05957.1
    genomic U89336.1 AAB47490.1
    genomic X80700.1 CAA56717.1
    mRNA BC003111.1 None
    mRNA BC082261.1 AAH82261.1
    mRNA BQ182713.1 None
    mRNA BT009823.1 AAP88825.1
    mRNA DB162975.1 None
    mRNA X59842.1 CAA42503.1
    other-genetic HQ447575.1 ADQ32061.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P40425.2 GenPept UniProtKB/Swiss-Prot:P40425
    Q6NW39 GenPept UniProtKB/TrEMBL:Q6NW39
    Q7KZE5 GenPept UniProtKB/TrEMBL:Q7KZE5
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Molecular Biology Databases
    Research Materials
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