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. [pr... See more...

Aliases for PBX2 Gene

Aliases for PBX2 Gene

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

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 Chromosome 10Q23 Deletion Syndrome. 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 Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PBX2 Gene

Genomics for PBX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PBX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PBX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PBX2

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

Genomic Locations for PBX2 Gene

Genomic Locations for PBX2 Gene
chr6:32,184,733-32,190,202
(GRCh38/hg38)
Size:
5,470 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

Protein Domains for PBX2 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
  • PBX domain
ProtoNet:

Suggested Antigen Peptide Sequences for PBX2 Gene

GenScript: Design optimal peptide antigens:
  • Protein G17 (PBX2_HUMAN)

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 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 19356220
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

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:0000790 nuclear chromatin ISA --
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

PathCards logo

SuperPathways for PBX2 Gene

No Data Available

SIGNOR curated interactions for PBX2 Gene

Activates:

Gene Ontology (GO) - Biological Process for PBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development IBA 21873635
GO:0009887 animal organ morphogenesis IBA 21873635
GO:0009954 proximal/distal pattern formation IEA --
genes like me logo Genes that share ontologies with PBX2: view

No data available for Pathways by source 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 :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for PBX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Lung(4.4)
  • Nervous system(2.5)
  • Blood(2.3)
  • Muscle(2.2)
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 30 31
  • 99.84 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PBX2 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PBX2 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PBX2 30 31
  • 93.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PBX2 30 31
  • 92.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pbx2 30
  • 91.47 (n)
Mouse
(Mus musculus)
Mammalia Pbx2 30 17 31
  • 90.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PBX2 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pbx2 30
  • 78.28 (n)
Str.6454 30
Zebrafish
(Danio rerio)
Actinopterygii pbx2 31
  • 68 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta exd 31 32
  • 68 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ceh-20 31 32
  • 58 (a)
ManyToMany
ceh-40 31 32
  • 35 (a)
ManyToMany
ceh-60 31
  • 26 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8721 31
  • 60 (a)
OneToMany
Species where no ortholog for PBX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

(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

Additional dbSNP identifiers (rs#s) for PBX2 Gene

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

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

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PBX2 Gene

Disorders for PBX2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
chromosome 10q23 deletion syndrome
- 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
Open Targets Platform
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 23
  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 23
  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 23
  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 23
  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 23

Products for PBX2 Gene

Sources for PBX2 Gene