This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determine... See more...

Aliases for PBX4 Gene

Aliases for PBX4 Gene

  • PBX Homeobox 4 2 3 5
  • Pre-B-Cell Leukemia Transcription Factor 4 2 3 4
  • Pre-B-Cell Leukemia Homeobox 4 2 3
  • Homeobox Protein PBX4 3 4

External Ids for PBX4 Gene

Previous GeneCards Identifiers for PBX4 Gene

  • GC19M020166
  • GC19M020063
  • GC19M019517
  • GC19M019533
  • GC19M019672
  • GC19M019234

Summaries for PBX4 Gene

Entrez Gene Summary for PBX4 Gene

  • This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]

GeneCards Summary for PBX4 Gene

PBX4 (PBX Homeobox 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PBX1.

Additional gene information for PBX4 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PBX4 Gene

Genomics for PBX4 Gene

GeneHancer (GH) Regulatory Elements for PBX4 Gene

Promoters and enhancers for PBX4 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
GH19J019617 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.6 621 2.6 SP1 POLR2A MYC L3MBTL2 MAX MNT NKRF ZFX MLLT1 NCOA6 PBX4 lnc-ZNF101-1 NCAN YJEFN3 CRTC1 CERS1 GDF1 UPF1 ENSG00000274800 MAU2
GH19J019589 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 17.4 +27.6 27624 3.2 SP1 RELA HLF MAX MNT MLLT1 POLR2A ZNF687 CREM FOSL2 GATAD2A PBX4 GMIP LPAR2 ATP13A1 RFXANK ZNF14 MAU2 ZNF506 PHF5CP
GH19J019865 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 9.4 -248.0 -247985 3.8 SP1 ZBTB6 POLR2A FOS NFYC L3MBTL2 MAX MNT ZNF652 RERE ZNF253 ATP13A1 ZNF93 ZNF506 MAU2 ZNF90 NR2C2AP MEF2B ZNF14 ZNF66
GH19J019529 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12 +89.0 89016 3.4 ZBTB6 POLR2A SP1 RFX1 EGR1 ZNF623 BCOR ZFHX2 SUPT5H CEBPB YJEFN3 NDUFA13 GATAD2A PBX4 LPAR2 GMIP ATP13A1 lnc-TSSK6-3 ENSG00000258674
GH19J019594 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 5.4 +19.9 19924 8.9 SP1 TCF7L2 NR2F6 ZNF217 ETV6 RELA HLF MAX TEAD4 ELF3 LPAR2 GATAD2A ATP13A1 GMIP PBX4 NDUFA13 RFXANK ZNF14 MAU2 ZNF506
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PBX4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PBX4 gene promoter:
  • E47
  • IRF-7A
  • Max1
  • Olf-1
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)
  • Tal-1

Genomic Locations for PBX4 Gene

Genomic Locations for PBX4 Gene
chr19:19,561,707-19,618,916
(GRCh38/hg38)
Size:
57,210 bases
Orientation:
Minus strand
chr19:19,672,516-19,729,725
(GRCh37/hg19)
Size:
57,210 bases
Orientation:
Minus strand

Genomic View for PBX4 Gene

Genes around PBX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PBX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PBX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PBX4 Gene

Proteins for PBX4 Gene

  • Protein details for PBX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYU1-PBX4_HUMAN
    Recommended name:
    Pre-B-cell leukemia transcription factor 4
    Protein Accession:
    Q9BYU1
    Secondary Accessions:
    • A5D8Y0
    • B3KUK9

    Protein attributes for PBX4 Gene

    Size:
    374 amino acids
    Molecular mass:
    40854 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BC033067; Type=Frameshift; Positions=137; Evidence={ECO:0000305};

neXtProt entry for PBX4 Gene

Post-translational modifications for PBX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PBX4 Gene

Domains & Families for PBX4 Gene

Gene Families for PBX4 Gene

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

Protein Domains for PBX4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PBX4 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein PBX4 (PBX4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYU1

UniProtKB/Swiss-Prot:

PBX4_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 PBX4: view

Function for PBX4 Gene

Phenotypes From GWAS Catalog for PBX4 Gene

Gene Ontology (GO) - Molecular Function for PBX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding ISS,IEA 11335119
genes like me logo Genes that share ontologies with PBX4: view
genes like me logo Genes that share phenotypes with PBX4: view

Animal Model Products

CRISPR Products

miRNA for PBX4 Gene

miRTarBase miRNAs that target PBX4

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PBX4 Gene

Localization for PBX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PBX4 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 PBX4 gene
Compartment Confidence
nucleus 4
extracellular 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PBX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001741 XY body IEA --
GO:0005634 nucleus IEA,IC 11335119
genes like me logo Genes that share ontologies with PBX4: view

Pathways & Interactions for PBX4 Gene

PathCards logo

SuperPathways for PBX4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PBX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II IC 11335119
GO:0045893 positive regulation of transcription, DNA-templated IC 11335119
genes like me logo Genes that share ontologies with PBX4: view

No data available for Pathways by source and SIGNOR curated interactions for PBX4 Gene

Drugs & Compounds for PBX4 Gene

No Compound Related Data Available

Transcripts for PBX4 Gene

mRNA/cDNA for PBX4 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PBX4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for PBX4 Gene

GeneLoc Exon Structure for
PBX4
ECgene alternative splicing isoforms for
PBX4

Expression for PBX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PBX4 Gene

mRNA differential expression in normal tissues according to GTEx for PBX4 Gene

This gene is overexpressed in Thyroid (x10.5).

Protein differential expression in normal tissues from HIPED for PBX4 Gene

This gene is overexpressed in Salivary gland (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PBX4 Gene



Protein tissue co-expression partners for PBX4 Gene

NURSA nuclear receptor signaling pathways regulating expression of PBX4 Gene:

PBX4

SOURCE GeneReport for Unigene cluster for PBX4 Gene:

Hs.466257
genes like me logo Genes that share expression patterns with PBX4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PBX4 Gene

Orthologs for PBX4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PBX4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PBX4 33 32
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PBX4 33 32
  • 87.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pbx4 32
  • 83.62 (n)
mouse
(Mus musculus)
Mammalia Pbx4 17 33 32
  • 83.19 (n)
cow
(Bos Taurus)
Mammalia PBX4 33 32
  • 82.77 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PBX4 33
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 45 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PBX4 33 32
  • 79.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PBX4 33
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PBX4 (2 of 2) 33
  • 81 (a)
OneToMany
pbx4 33
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta exd 33 34
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-20 33 34
  • 52 (a)
ManyToMany
ceh-40 33 34
  • 32 (a)
ManyToMany
ceh-60 33
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8721 33
  • 50 (a)
OneToMany
Species where no ortholog for PBX4 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PBX4 Gene

ENSEMBL:
Gene Tree for PBX4 (if available)
TreeFam:
Gene Tree for PBX4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PBX4: view image

Paralogs for PBX4 Gene

(3) SIMAP similar genes for PBX4 Gene using alignment to 2 proteins:

  • PBX4_HUMAN
  • H0YL59_HUMAN
genes like me logo Genes that share paralogs with PBX4: view

Variants for PBX4 Gene

Sequence variations from dbSNP and Humsavar for PBX4 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs376647012 A colorectal cancer sample 19,565,010(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000021089 -- 19,607,306(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000048719 -- 19,568,208(-) C/A/T genic_downstream_transcript_variant, intron_variant
rs1000065171 -- 19,563,993(-) T/A/C genic_downstream_transcript_variant, intron_variant
rs1000146440 -- 19,589,452(-) C/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PBX4 Gene

Variant ID Type Subtype PubMed ID
esv3410221 CNV duplication 20981092
nsv1113987 CNV deletion 24896259
nsv1127663 CNV deletion 24896259
nsv509723 CNV insertion 20534489
nsv509725 CNV insertion 20534489
nsv518076 CNV loss 19592680
nsv952426 CNV deletion 24416366
nsv952427 CNV deletion 24416366
nsv978785 CNV duplication 23825009

Variation tolerance for PBX4 Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.59; 30.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PBX4 Gene

Human Gene Mutation Database (HGMD)
PBX4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PBX4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PBX4 Gene

Disorders for PBX4 Gene

Additional Disease Information for PBX4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PBX4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PBX4 Gene

Publications for PBX4 Gene

  1. Common variants at 30 loci contribute to polygenic dyslipidemia. (PMID: 19060906) Kathiresan S … Cupples LA (Nature genetics 2009) 3 43 56
  2. Polymorphisms at newly identified lipid-associated loci are associated with blood lipids and cardiovascular disease in an Asian Malay population. (PMID: 18987386) Tai ES … Seielstad M (Journal of lipid research 2009) 3 43 56
  3. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. (PMID: 18193044) Kathiresan S … Orho-Melander M (Nature genetics 2008) 3 43 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for PBX4 Gene

Sources for PBX4 Gene