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Aliases for PBX2 Gene

Aliases for PBX2 Gene

  • PBX Homeobox 2 2 3 5
  • Pre-B-Cell Leukemia Transcription Factor 2 2 3
  • Pre-B-Cell Leukemia Homeobox 2 2 3
  • Homeobox Protein PBX2 3 4
  • G17 3 4
  • XXbac-BPG300A18.13 3
  • Homeobox 12 3
  • Protein G17 4
  • PBX2MHC 3
  • HOX12 3

External Ids for PBX2 Gene

Previous GeneCards Identifiers for PBX2 Gene

  • GC06M032179
  • GC06M031923
  • GC06M032223
  • GC06M032260
  • GC06M031907
  • GC06M032151
  • GC06M032153
  • GC06M032158

Summaries for PBX2 Gene

Entrez Gene Summary for PBX2 Gene

  • 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]

GeneCards Summary for PBX2 Gene

PBX2 (PBX Homeobox 2) is a Protein Coding gene. Diseases associated with PBX2 include Duodenal Gastrinoma. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is PBX3.

UniProtKB/Swiss-Prot for PBX2 Gene

  • Transcriptional activator that binds the sequence 5-ATCAATCAA-3. Activates transcription of PF4 in complex with MEIS1.

Gene Wiki entry for PBX2 Gene

Additional gene information for PBX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PBX2 Gene

Genomics for PBX2 Gene

GeneHancer (GH) Regulatory Elements for PBX2 Gene

Promoters and enhancers for PBX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J032184 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 688 -1.1 -1094 13.4 CLOCK MLX YBX1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PBX2 NOTCH4 GPSM3 ATF6B BRD2 DDX39B LY6G5B LSM2 RPL3P2 SKIV2L
GH06J032965 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 91.4 -780.5 -780483 10.4 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ZNF263 BRD2 HLA-DMA ENSG00000223837 LEMD2 ATF6B VPS52 RXRB DAXX WDR46 HCG25
GH06J031538 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 79.1 +649.0 649047 4.9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 DDX39B GC06M031542 GC06M031543 GC06M031573 GC06M032007 GC06M032013 GC06M032015 PIR32498 SNORD84 PIR59933
GH06J031733 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 63.8 +452.7 452731 8.5 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 MSH5 CLIC1 MSH5-SAPCD1 DDX39B LY6G5B ATF6B LSM2 SKIV2L CSNK2B GPANK1
GH06J031813 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 57 +364.3 364310 25.6 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 C6orf48 HSPA1B HSPA1A HSPA1L GC06P032216 ATF6B DDX39B LY6G5B BAG6 LSM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PBX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PBX2 gene promoter:
  • STAT3
  • Tal-1beta
  • HEN1
  • ITF-2
  • CREB
  • deltaCREB
  • Pax-5

Genomic Locations for PBX2 Gene

Genomic Locations for PBX2 Gene
chr6:32,184,733-32,190,186
(GRCh38/hg38)
Size:
5,454 bases
Orientation:
Minus strand
chr6:32,152,510-32,157,963
(GRCh37/hg19)
Size:
5,454 bases
Orientation:
Minus strand

Genomic View for PBX2 Gene

Genes around PBX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PBX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PBX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PBX2 Gene

  • Protein details for PBX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40425-PBX2_HUMAN
    Recommended name:
    Pre-B-cell leukemia transcription factor 2
    Protein Accession:
    P40425
    Secondary Accessions:
    • A2BFJ2

    Protein attributes for PBX2 Gene

    Size:
    430 amino acids
    Molecular mass:
    45881 Da
    Quaternary structure:
    • Forms heterodimers with MEIS1 and heterotrimers with MEIS1 and HOXA9. Interacts with PBXIP1.

neXtProt entry for PBX2 Gene

Post-translational modifications for PBX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PBX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PBX2 Gene

Domains & Families for PBX2 Gene

Gene Families for PBX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for PBX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P40425

UniProtKB/Swiss-Prot:

PBX2_HUMAN :
  • Belongs to the TALE/PBX homeobox family.
Family:
  • Belongs to the TALE/PBX homeobox family.
genes like me logo Genes that share domains with PBX2: view

Function for PBX2 Gene

Molecular function for PBX2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator that binds the sequence 5-ATCAATCAA-3. Activates transcription of PF4 in complex with MEIS1.
GENATLAS Biochemistry:
transcription factor,with a homeo domain,homologous to PBX1,expressed in most tissues,fetal and adult,binding DNA cooperatively with the heterodimer E2A/myogenic transcription factors

Phenotypes From GWAS Catalog for PBX2 Gene

Gene Ontology (GO) - Molecular Function for PBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 12054735
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IC --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with PBX2: view
genes like me logo Genes that share phenotypes with PBX2: view

Animal Models for PBX2 Gene

MGI Knock Outs for PBX2:

Animal Model Products

Clone Products

  • Addgene plasmids for PBX2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PBX2 Gene

Localization for PBX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PBX2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PBX2 gene
Compartment Confidence
nucleus 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 18973687
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with PBX2: view

Pathways & Interactions for PBX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0009954 proximal/distal pattern formation IEA --
GO:0030326 embryonic limb morphogenesis IEA --
genes like me logo Genes that share ontologies with PBX2: view

No data available for Pathways by source and SIGNOR curated interactions for PBX2 Gene

Drugs & Compounds for PBX2 Gene

No Compound Related Data Available

Transcripts for PBX2 Gene

mRNA/cDNA for PBX2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(307) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PBX2 Gene

Pre-B-cell leukemia homeobox 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for PBX2

Alternative Splicing Database (ASD) splice patterns (SP) for PBX2 Gene

No ASD Table

Relevant External Links for PBX2 Gene

GeneLoc Exon Structure for
PBX2
ECgene alternative splicing isoforms for
PBX2

Expression for PBX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PBX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PBX2 Gene

This gene is overexpressed in Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for PBX2 Gene

This gene is overexpressed in Blymphocyte (40.7) and CD8 Tcells (18.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PBX2 Gene



Protein tissue co-expression partners for PBX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PBX2 Gene:

PBX2

SOURCE GeneReport for Unigene cluster for PBX2 Gene:

Hs.509545

mRNA Expression by UniProt/SwissProt for PBX2 Gene:

P40425-PBX2_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for PBX2 Gene

  • Liver(4.3)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with PBX2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PBX2 Gene

Orthologs for PBX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PBX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PBX2 34 33
  • 99.84 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PBX2 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PBX2 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PBX2 34 33
  • 93.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PBX2 34 33
  • 92.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pbx2 33
  • 91.47 (n)
mouse
(Mus musculus)
Mammalia Pbx2 16 34 33
  • 90.93 (n)
lizard
(Anolis carolinensis)
Reptilia PBX2 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pbx2 33
  • 78.28 (n)
Str.6454 33
zebrafish
(Danio rerio)
Actinopterygii pbx2 34
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta exd 34 35
  • 68 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-20 34 35
  • 58 (a)
ManyToMany
ceh-40 34 35
  • 35 (a)
ManyToMany
ceh-60 34
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8721 34
  • 60 (a)
OneToMany
Species where no ortholog for PBX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PBX2 Gene

ENSEMBL:
Gene Tree for PBX2 (if available)
TreeFam:
Gene Tree for PBX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PBX2: view image

Paralogs for PBX2 Gene

Paralogs for PBX2 Gene

(4) SIMAP similar genes for PBX2 Gene using alignment to 1 proteins:

  • PBX2_HUMAN

Pseudogenes.org Pseudogenes for PBX2 Gene

genes like me logo Genes that share paralogs with PBX2: view

Variants for PBX2 Gene

Sequence variations from dbSNP and Humsavar for PBX2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000 -- 32,186,118(-) T/C 3_prime_UTR_variant
rs1000286697 -- 32,184,644(-) C/A downstream_transcript_variant
rs1000337149 -- 32,184,909(-) C/T 3_prime_UTR_variant
rs1001 -- 32,186,196(-) A/C/G/T 3_prime_UTR_variant
rs1001508058 -- 32,184,697(-) G/A downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PBX2 Gene

Variant ID Type Subtype PubMed ID
nsv830629 CNV loss 17160897
nsv602105 CNV loss 21841781
nsv602104 CNV loss 21841781
nsv462877 CNV loss 19166990
nsv1126749 CNV deletion 24896259
nsv1112900 CNV deletion 24896259
nsv1073969 CNV deletion 25765185
esv2759415 CNV gain+loss 17122850
dgv10486n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781

Variation tolerance for PBX2 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PBX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PBX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PBX2 Gene

Disorders for PBX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PBX2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
duodenal gastrinoma
  • duodenal g-cell gastrin producing tumor
- elite association - COSMIC cancer census association via MalaCards
Search PBX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PBX2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PBX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PBX2 Gene

Publications for PBX2 Gene

  1. Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3. (PMID: 7835890) Sugaya K … Ikemura T (Genomics 1994) 2 3 4 22 58
  2. Homeodomain proteins MEIS1 and PBXs regulate the lineage-specific transcription of the platelet factor 4 gene. (PMID: 12609849) Okada Y … Doi T (Blood 2003) 3 4 22 58
  3. The novel gene G17, located in the human major histocompatibility complex, encodes PBX2, a homeodomain-containing protein. (PMID: 7759099) Aguado B … Campbell RD (Genomics 1995) 3 4 22 58
  4. Fusion with E2A converts the Pbx1 homeodomain protein into a constitutive transcriptional activator in human leukemias carrying the t(1;19) translocation. (PMID: 7910944) Lu Q … Kamps MP (Molecular and cellular biology 1994) 3 4 22 58
  5. PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1. (PMID: 1682799) Monica K … Cleary ML (Molecular and cellular biology 1991) 3 4 22 58

Products for PBX2 Gene

  • Addgene plasmids for PBX2