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Aliases for PAX5 Gene

Aliases for PAX5 Gene

  • Paired Box 5 2 3
  • BSAP 3 4 6
  • B-Cell Lineage Specific Activator 2 3
  • ALL3 3 6
  • Paired Box Gene 5 (B-Cell Lineage Specific Activator Protein) 2
  • Paired Box Gene 5 (B-Cell Lineage Specific Activator) 2
  • B-Cell-Specific Transcription Factor 4
  • Paired Box Homeotic Gene 5 3
  • Transcription Factor PAX 5 3
  • Paired Box Protein Pax-5 3
  • Paired Domain Gene 5 3

External Ids for PAX5 Gene

Previous GeneCards Identifiers for PAX5 Gene

  • GC09M037150
  • GC09M037007

Summaries for PAX5 Gene

Entrez Gene Summary for PAX5 Gene

  • This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

GeneCards Summary for PAX5 Gene

PAX5 (Paired Box 5) is a Protein Coding gene. Diseases associated with PAX5 include leukemia, acute lymphoblastic 3 and lymphoplasmacytic lymphoma. Among its related pathways are Wnt / Hedgehog / Notch and Transcriptional misregulation in cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PAX4.

UniProtKB/Swiss-Prot for PAX5 Gene

  • May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene

Gene Wiki entry for PAX5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX5 Gene

Genomics for PAX5 Gene

Regulatory Elements for PAX5 Gene

Genomic Location for PAX5 Gene

36,833,275 bp from pter
37,034,479 bp from pter
201,205 bases
Minus strand

Genomic View for PAX5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PAX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX5 Gene

Proteins for PAX5 Gene

  • Protein details for PAX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Paired box protein Pax-5
    Protein Accession:
    Secondary Accessions:
    • A3QVP6
    • A3QVP7
    • A3QVP8
    • C0KTF6
    • C0KTF7
    • C0KTF8
    • C0KTF9
    • C0KTG0
    • O75933
    • Q5SFM2
    • Q6S728
    • Q6S729
    • Q6S730
    • Q6S731
    • Q6S732

    Protein attributes for PAX5 Gene

    391 amino acids
    Molecular mass:
    42149 Da
    Quaternary structure:
    • Interacts with DAXX (By similarity). Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding properties.

    Three dimensional structures from OCA and Proteopedia for PAX5 Gene

    Alternative splice isoforms for PAX5 Gene

neXtProt entry for PAX5 Gene

Proteomics data for PAX5 Gene at MOPED

Post-translational modifications for PAX5 Gene

No data available for DME Specific Peptides for PAX5 Gene

Domains for PAX5 Gene

Gene Families for PAX5 Gene

  • PAX :Paired boxes
  • PRD :Homeoboxes / PRD class

Protein Domains for PAX5 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q02548
  • Contains 1 paired domain.
genes like me logo Genes that share domains with PAX5: view

Function for PAX5 Gene

Molecular function for PAX5 Gene

GENATLAS Biochemistry: paired box (DNA binding) containing protein 5,with a truncated homeo domain,expressed in developing central nervous system,B cells and testis,subject to allele specific regulation during B-lymphopoiesis,involved in translocation t(9;14)(p13;q32) with diffuse large-cell lymphoma expressing Ki-1 (CD30) antigen (see KIS1) in the related splenic marginal zone lymphoma and in lymphoplasmacytic lymphoma
UniProtKB/Swiss-Prot Function: May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene

Gene Ontology (GO) - Molecular Function for PAX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0005515 protein binding IPI 24735925
genes like me logo Genes that share ontologies with PAX5: view
genes like me logo Genes that share phenotypes with PAX5: view

Animal Models for PAX5 Gene

MGI Knock Outs for PAX5:
Targeting motifs for PAX5 Gene
HOMER Transcription Factor Regulatory Elements motif PAX5
  • Consensus sequence: GCAGCCAAGCGTGACC Submotif: canonical Cell Type: GM12878 GeoId: GSE32465

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targeting for PAX5 Gene

Localization for PAX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX5 Gene

Subcellular locations from

Jensen Localization Image for PAX5 Gene COMPARTMENTS Subcellular localization image for PAX5 gene
Compartment Confidence
nucleus 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PAX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PAX5: view

Pathways for PAX5 Gene

genes like me logo Genes that share pathways with PAX5: view

Pathways by source for PAX5 Gene

2 Cell Signaling Technology pathways for PAX5 Gene
2 BioSystems pathways for PAX5 Gene
1 KEGG pathway for PAX5 Gene

Gene Ontology (GO) - Biological Process for PAX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter TAS 10524622
GO:0006959 humoral immune response TAS 10524629
genes like me logo Genes that share ontologies with PAX5: view

Compounds for PAX5 Gene

(33) Novoseek inferred chemical compound relationships for PAX5 Gene

Compound -log(P) Hits PubMed IDs
deoxypyridinoline 73.4 17
alendronate 66.2 10
risedronate 59.5 5
cytidine 55.8 1
teriparatide 52.6 1
genes like me logo Genes that share compounds with PAX5: view

Transcripts for PAX5 Gene

Unigene Clusters for PAX5 Gene

Paired box 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PAX5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP2: -
SP3: -
SP4: - -
SP5: - - -

Relevant External Links for PAX5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PAX5 Gene

mRNA expression in normal human tissues for PAX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAX5 Gene

This gene is overexpressed in Spleen (7.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PAX5 Gene

SOURCE GeneReport for Unigene cluster for PAX5 Gene Hs.654464

genes like me logo Genes that share expressions with PAX5: view

No data available for mRNA Expression by UniProt/SwissProt for PAX5 Gene

Orthologs for PAX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PAX5 35
  • 99.57 (n)
  • 100 (a)
PAX5 36
  • 100 (a)
(Bos Taurus)
Mammalia PAX5 35
  • 94.29 (n)
  • 97.55 (a)
PAX5 36
  • 97 (a)
(Canis familiaris)
Mammalia PAX5 35
  • 94.37 (n)
  • 98.98 (a)
PAX5 36
  • 91 (a)
(Mus musculus)
Mammalia Pax5 35
  • 92.5 (n)
  • 99.23 (a)
Pax5 16
Pax5 36
  • 99 (a)
(Monodelphis domestica)
Mammalia PAX5 36
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia PAX5 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Pax5 35
  • 92.41 (n)
  • 99.23 (a)
(Gallus gallus)
Aves PAX5 35
  • 82.01 (n)
  • 93.86 (a)
PAX5 36
  • 92 (a)
(Anolis carolinensis)
Reptilia PAX5 36
  • 94 (a)
African clawed frog
(Xenopus laevis)
Amphibia pax5-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pax5 35
  • 78.06 (n)
  • 92.8 (a)
(Danio rerio)
Actinopterygii pax5 35
  • 73.79 (n)
  • 80.55 (a)
pax5 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta sv 36
  • 21 (a)
sv 37
  • 71 (a)
Poxn 37
  • 73 (a)
Poxm 37
  • 68 (a)
(Caenorhabditis elegans)
Secernentea egl-38 36
  • 42 (a)
npax-2 36
  • 24 (a)
pax-2 36
  • 34 (a)
K07C11.1 37
  • 63 (a)
egl-38 37
  • 72 (a)
K06B9.5 37
  • 71 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
-- 36
  • 15 (a)
Species with no ortholog for PAX5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PAX5 Gene

Gene Tree for PAX5 (if available)
Gene Tree for PAX5 (if available)

Paralogs for PAX5 Gene

Paralogs for PAX5 Gene

genes like me logo Genes that share paralogs with PAX5: view

Variants for PAX5 Gene

Sequence variations from dbSNP and Humsavar for PAX5 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs733056 -- 36,834,923(-) CAGTC(A/G)TGCAT utr-variant-3-prime, nc-transcript-variant
rs870559 -- 36,910,795(-) CACAG(C/T)GCGGG intron-variant
rs874411 -- 37,022,960(+) AGAGG(C/G)TGGTG intron-variant
rs874412 -- 37,022,877(+) TGTTA(C/T)CTTCC intron-variant
rs883965 -- 36,993,975(-) GTTTG(C/T)GCACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PAX5 Gene

Variant ID Type Subtype PubMed ID
nsv471306 CNV Loss 18288195
nsv6531 CNV Loss 18451855
esv2738430 CNV Deletion 23290073
nsv466387 CNV Loss 19166990
nsv466388 CNV Loss 19166990
nsv516601 CNV Loss 19592680
nsv438102 CNV Loss 16468122
nsv466389 CNV Loss 19166990
esv1261217 CNV Insertion 17803354
esv2738431 CNV Deletion 23290073
nsv893056 CNV Gain 21882294
nsv522345 CNV Loss 19592680
nsv824918 CNV Gain 20364138
nsv824921 CNV Gain 20364138
nsv824922 CNV Gain 20364138
esv22138 CNV Loss 19812545
esv5936 CNV Gain 19470904

Relevant External Links for PAX5 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX5 Gene

Disorders for PAX5 Gene

(1) OMIM Diseases for PAX5 Gene (167414)


  • Note=A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation t(9;18)(p13;q11.2) with ZNF521. Translocation t(9;3)(p13;p14.1) with FOXP1. Translocation t(9;12)(p13;p13) with ETV6.
  • Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065]: A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphonodes. {ECO:0000269 PubMed:24013638}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PAX5 Gene

(50) Novoseek inferred disease relationships for PAX5 Gene

Disease -log(P) Hits PubMed IDs
lymphoma b-cell 74.5 26
waldenstrom macroglobulinemia 73.6 9
hodgkin disease 67.4 15
lymphoma 64.5 38
lymphoma small lymphocytic 60.6 2

Relevant External Links for PAX5

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PAX5: view

Publications for PAX5 Gene

  1. Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis. (PMID: 1516825) Adams B. … Busslinger M. (Genes Dev. 1992) 2 3 4 23
  2. Human Pax-5 C-terminal isoforms possess distinct transactivation properties and are differentially modulated in normal and malignant B cells. (PMID: 15385562) Robichaud G.A. … Ouellette R.J. (J. Biol. Chem. 2004) 3 4 23
  3. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. (PMID: 17344859) Mullighan C.G. … Downing J.R. (Nature 2007) 3 4 23
  4. PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study. (PMID: 19587702) Familiades J. … Delabesse E. (Leukemia 2009) 3 23 48
  5. Multiple isoforms of PAX5 are expressed in both lymphomas and normal B-cells. (PMID: 19725825) Arseneau J.R. … Ouellette R.J. (Br. J. Haematol. 2009) 3 4 23

Products for PAX5 Gene

Sources for PAX5 Gene

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