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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 Box Protein 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 Leukemia, Acute Lymphoblastic. Among its related pathways are ID signaling pathway and C-MYB transcription factor network. 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 PAX2.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX5 Gene

Genomics for PAX5 Gene

Regulatory Elements for PAX5 Gene

Enhancers for PAX5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G037323 2.4 FANTOM5 ENCODE dbSUPER 36.7 -289.3 -289271 3.1 PKNOX1 WRNIP1 BMI1 FEZF1 RAD21 ZBTB40 ZSCAN5C IKZF2 CREM JUNB PAX5 ZBTB5 ZCCHC7 FBXO10 GC09P037324 RNU6-677P
GH09G037369 1.5 FANTOM5 ENCODE dbSUPER 34.6 -335.6 -335596 3.6 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 ZNF207 RELB ETV6 IKZF2 CREM PAX5 ZCCHC7 ZBTB5 FBXO10 LOC105376035 LINC01627
GH09G037026 2 FANTOM5 Ensembl ENCODE dbSUPER 23.6 +3.1 3126 12.4 HDGF PKNOX1 ARNT MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YBX1 PAX5 TRMT10B EXOSC3 ZCCHC7 LOC105376032 ZBTB5 LOC105376031
GH09G037402 1.4 FANTOM5 ENCODE dbSUPER 25.9 -368.4 -368422 2.3 PKNOX1 FOS RELB RCOR1 ETV6 IKZF2 CREM SMAD5 CBFB JUNB PAX5 ZCCHC7 ZBTB5 LOC105376032 LOC105376034 GRHPR LINC01627
GH09G037374 1.4 FANTOM5 ENCODE dbSUPER 18.5 -341.4 -341437 4.7 HDGF TBP ATF1 PKNOX1 ZBTB40 RELB ETV6 IKZF2 CREM SMAD5 PAX5 ZCCHC7 ZBTB5 FBXO10 LOC105376035 LINC01627
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for PAX5 Gene

No data available for DME Specific Peptides for PAX5 Gene

Domains & Families for PAX5 Gene

No data available for UniProtKB/Swiss-Prot for PAX5 Gene

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 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
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

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
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 PAX5 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PAX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with PAX5: view

Pathways & Interactions 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

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:0006355 regulation of transcription, DNA-templated IEA --
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

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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for PAX5 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAX5 Gene:

PAX5

SOURCE GeneReport for Unigene cluster for PAX5 Gene:

Hs.654464

Evidence on tissue expression from TISSUES for PAX5 Gene

  • Bone marrow(3.2)
  • Lymph node(3.1)
  • Blood(3)
  • Spleen(2.6)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with PAX5: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAX5 35
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAX5 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAX5 34 35
  • 94.37 (n)
cow
(Bos Taurus)
Mammalia PAX5 34 35
  • 94.29 (n)
mouse
(Mus musculus)
Mammalia Pax5 34 16 35
  • 92.5 (n)
rat
(Rattus norvegicus)
Mammalia Pax5 34
  • 92.41 (n)
chicken
(Gallus gallus)
Aves PAX5 34 35
  • 82.01 (n)
lizard
(Anolis carolinensis)
Reptilia PAX5 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pax5 34
  • 78.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia pax5-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii pax5 34 35
  • 73.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta Poxn 36
  • 73 (a)
sv 36 35
  • 71 (a)
Poxm 36
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-38 36 35
  • 72 (a)
K06B9.5 36
  • 71 (a)
K07C11.1 36
  • 63 (a)
pax-2 35
  • 34 (a)
ManyToMany
npax-2 35
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
ManyToMany
-- 35
  • 15 (a)
ManyToMany
Species where no ortholog for PAX5 was found in the sources mined by GeneCards:
  • 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

Variants for PAX5 Gene

Sequence variations from dbSNP and Humsavar for PAX5 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs398123063 other, Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065] 37,002,705(-) TCAGC(A/G)GCATC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs115889954 untested 37,006,497(+) TGGGA(C/G/T)TGGTT intron-variant, nc-transcript-variant, reference, missense
rs137870876 untested 36,966,691(+) GAAGC(A/C/G)AGTGG nc-transcript-variant, reference, missense
rs139701864 untested 37,034,026(+) TCTAA(A/T)TCCAT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs34810717 untested 36,882,052(-) CCCCC(A/G)CTGGA intron-variant, nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv1261217 CNV insertion 17803354
esv22138 CNV loss 19812545
esv2738430 CNV deletion 23290073
esv2738431 CNV deletion 23290073
esv3573227 CNV loss 25503493
esv5936 CNV gain 19470904
nsv1125318 OTHER inversion 24896259
nsv1140972 CNV deletion 24896259
nsv438102 CNV loss 16468122
nsv466387 CNV loss 19166990
nsv466388 CNV loss 19166990
nsv466389 CNV loss 19166990
nsv471306 CNV loss 18288195
nsv516601 CNV loss 19592680
nsv522345 CNV loss 19592680
nsv614212 CNV loss 21841781
nsv614213 CNV loss 21841781
nsv614214 CNV loss 21841781
nsv6531 CNV deletion 18451855
nsv824918 CNV gain 20364138
nsv824921 CNV gain 20364138
nsv824922 CNV gain 20364138

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

Human Gene Mutation Database (HGMD)
PAX5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX5

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

Disorders for PAX5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
leukemia, acute lymphoblastic 3
  • leukemia, acute lymphoblastic, susceptibility to, 3
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
gray zone lymphoma
  • b-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical hodgkin lymphoma
lymphoplasmacytic lymphoma
  • waldenstrom macroglobulinemia
mediastinal gray zone lymphoma
  • mediastinal b-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical hodgkin lymphoma
- 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
  • 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 lymphnodes. {ECO:0000269 PubMed:24013638}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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}.

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 22 64
  2. 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 22 64
  3. 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 22 46 64
  4. 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 22 64
  5. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. (PMID: 24013638) Shah S. … Offit K. (Nat. Genet. 2013) 3 4 64

Products for PAX5 Gene

Sources for PAX5 Gene

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