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Aliases for PAX5 Gene

Aliases for PAX5 Gene

  • Paired Box 5 2 3 5
  • B-Cell Lineage Specific Activator 2 3
  • BSAP 3 4
  • 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 Domain Gene 5 3
  • ALL3 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 precursor b-cell acute lymphoblastic leukemia. Among its related pathways are IgA-Producing B Cells in the Intestine and Id Signaling Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. 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

Promoters for PAX5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PAX5 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAX5 Gene

Chromosome:
9
Start:
36,833,275 bp from pter
End:
37,035,319 bp from pter
Size:
202,045 bases
Orientation:
Minus strand

Genomic View for PAX5 Gene

Genes around PAX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q02548-PAX5_HUMAN
    Recommended name:
    Paired box protein Pax-5
    Protein Accession:
    Q02548
    Secondary Accessions:
    • A3QVP6
    • A3QVP7
    • A3QVP8
    • C0KTF6
    • C0KTF7
    • C0KTF8
    • C0KTF9
    • C0KTG0
    • O75933
    • Q5SFM2
    • Q6S728
    • Q6S729
    • Q6S730
    • Q6S731
    • Q6S732

    Protein attributes for PAX5 Gene

    Size:
    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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PAX5 (PAX5)

No data available for DME Specific Peptides for PAX5 Gene

Domains & Families for PAX5 Gene

Protein Domains for PAX5 Gene

Graphical View of Domain Structure for InterPro Entry

Q02548

UniProtKB/Swiss-Prot:

PAX5_HUMAN :
  • Contains 1 paired domain.
Domain:
  • 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: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:

Animal Model Products

Targeted motifs for PAX5 Gene
HOMER Transcription Factor Regulatory Elements motif PAX5
  • Consensus sequence: GCAGCCAAGCGTGACC Submotif: canonical Cell Type: GM12878 GEO ID: GSE32465

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for PAX5 Gene

Localization for PAX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX5 Gene

Subcellular locations from

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

No data available for Gene Ontology (GO) - Cellular Components for PAX5 Gene

Pathways & Interactions for PAX5 Gene

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

Pathways by source for PAX5 Gene

2 BioSystems pathways for PAX5 Gene
1 KEGG pathway for PAX5 Gene

SIGNOR curated interactions for PAX5 Gene

Is activated by:
Is inactivated by:

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 IEA --
GO:0007275 multicellular organism development TAS 10524629
GO:0007283 spermatogenesis IEA --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with PAX5: view

Drugs & Compounds for PAX5 Gene

(22) Drugs for PAX5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for PAX5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
SP1:
SP2: -
SP3: -
SP4: - -
SP5: - - -

Relevant External Links for PAX5 Gene

GeneLoc Exon Structure for
PAX5
ECgene alternative splicing isoforms for
PAX5

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 (x7.5).

Protein differential expression in normal tissues from HIPED for PAX5 Gene

This gene is overexpressed in Blymphocyte (48.3), Peripheral blood mononuclear cells (9.9), and Heart (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PAX5: view

Protein tissue co-expression partners for PAX5 Gene

Primer Products

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia PAX5 35
  • 99.57 (n)
  • 100 (a)
PAX5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAX5 36
  • 97 (a)
OneToOne
PAX5 35
  • 94.29 (n)
  • 97.55 (a)
dog
(Canis familiaris)
Mammalia PAX5 35
  • 94.37 (n)
  • 98.98 (a)
PAX5 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pax5 16
Pax5 36
  • 99 (a)
OneToOne
Pax5 35
  • 92.5 (n)
  • 99.23 (a)
oppossum
(Monodelphis domestica)
Mammalia PAX5 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAX5 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pax5 35
  • 92.41 (n)
  • 99.23 (a)
chicken
(Gallus gallus)
Aves PAX5 36
  • 92 (a)
OneToOne
PAX5 35
  • 82.01 (n)
  • 93.86 (a)
lizard
(Anolis carolinensis)
Reptilia PAX5 36
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pax5-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pax5 35
  • 78.06 (n)
  • 92.8 (a)
zebrafish
(Danio rerio)
Actinopterygii pax5 35
  • 73.79 (n)
  • 80.55 (a)
pax5 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sv 36
  • 21 (a)
OneToMany
Poxm 37
  • 68 (a)
Poxn 37
  • 73 (a)
sv 37
  • 71 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-38 37
  • 72 (a)
K06B9.5 37
  • 71 (a)
K07C11.1 37
  • 63 (a)
egl-38 36
  • 42 (a)
ManyToMany
npax-2 36
  • 24 (a)
ManyToMany
pax-2 36
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
ManyToMany
-- 36
  • 15 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for PAX5 (if available)
TreeFam:
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
rs34810717 - 36,882,052(-) CCCCC(A/G)CTGGA intron-variant, nc-transcript-variant, reference, missense
VAR_070672 -
VAR_070673 -
VAR_070674 -
VAR_070675 -

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

Variation tolerance for PAX5 Gene

Residual Variation Intolerance Score: 60.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAX5 Gene

HapMap Linkage Disequilibrium report
PAX5
Human Gene Mutation Database (HGMD)
PAX5

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

Disorders for PAX5 Gene

MalaCards: The human disease database

(27) MalaCards diseases for PAX5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute lymphoblastic 3
  • acute lymphoblastic leukemia, susceptibility to 3
precursor b-cell acute lymphoblastic leukemia
  • b-all
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
lymphoplasmacytic lymphoma
  • waldenström's macroglobulinemia
hematologic cancer
  • blood cancer
- elite association - COSMIC cancer census association via MalaCards
Search PAX5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAX5_HUMAN
  • 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. {ECO:0000269 PubMed:17344859}.
  • 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.

Relevant External Links for PAX5

Genetic Association Database (GAD)
PAX5
Human Genome Epidemiology (HuGE) Navigator
PAX5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAX5
genes like me logo Genes that share disorders with PAX5: view

No data available for Genatlas for PAX5 Gene

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 67
  2. Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study. (PMID: 20160164) Coyaud E. … Broccardo C. (Blood 2010) 3 23
  3. Expression profiling of transcription factors in B- or T-acute lymphoblastic leukemia/lymphoma and burkitt lymphoma: usefulness of PAX5 immunostaining as pan-Pre-B-cell marker. (PMID: 20023257) Nasr M.R. … Syrbu S. (Am. J. Clin. Pathol. 2010) 3 23
  4. PAX5-positive T-cell anaplastic large cell lymphomas associated with extra copies of the PAX5 gene locus. (PMID: 20118907) Feldman A.L. … Macon W.R. (Mod. Pathol. 2010) 3 23
  5. PAX5 is expressed in small-cell lung cancer and positively regulates c-Met transcription. (PMID: 19139719) Kanteti R. … Salgia R. (Lab. Invest. 2009) 3 23

Products for PAX5 Gene

Sources for PAX5 Gene

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