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PAX5 (paired box gene 5)

Written2005-08Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
This article is an update of :
2004-01Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)BSAP (B-cell lineage specific activator protein)
HGNC (Hugo) PAX5
HGNC Alias symbBSAP
HGNC Alias nameB-cell lineage specific activator
HGNC Previous namepaired box gene 5 (B-cell lineage specific activator protein)
 paired box gene 5 (B-cell lineage specific activator)
LocusID (NCBI) 5079
Atlas_Id 62
Location 9p13.2  [Link to chromosome band 9p13]
Location_base_pair Starts at 36833271 and ends at 37034268 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping PAX5.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DBX1 (11p15.1)::PAX5 (9p13.2)ELN (7q11.23)::PAX5 (9p13.2)EMILIN2 (18p11.32)::PAX5 (9p13.2)
ETV6 (12p13.2)::PAX5 (9p13.2)FBRSL1 (12q24.33)::PAX5 (9p13.2)FOXP1 (3p13)::PAX5 (9p13.2)
JAK2 (9p24.1)::PAX5 (9p13.2)MBNL1 (3q25.1)::PAX5 (9p13.2)P2RY8 (Xp22.33)::PAX5 (9p13.2)
PAX5 (9p13.2)::ASXL1 (20q11.21)PAX5 (9p13.2)::AUTS2 (7q11.22)PAX5 (9p13.2)::BCOR (Xp11.4)
PAX5 (9p13.2)::BRD1 (22q13.33)PAX5 (9p13.2)::CBFA2T3 (16q24.3)PAX5 (9p13.2)::DACH1 (13q21.33)
PAX5 (9p13.2)::DACH2 (Xq21.2)PAX5 (9p13.2)::DMRTA2 (1p32.3)PAX5 (9p13.2)::ELN (7q11.23)
PAX5 (9p13.2)::ESRRB (14q24.3)PAX5 (9p13.2)::ETV6 (12p13.2)PAX5 (9p13.2)::FBRSL1 (12q24.33)
PAX5 (9p13.2)::FKBP15 (9q32)PAX5 (9p13.2)::FOXP1 (3p13)PAX5 (9p13.2)::GOLGA6A (15q24.1)
PAX5 (9p13.2)::GRM3 (7q21.11)PAX5 (9p13.2)::HIPK1 (1p13.2)PAX5 (9p13.2)::JAK2 (9p24.1)
PAX5 (9p13.2)::KANK1 (9p24.3)PAX5 (9p13.2)::KIF3B (20q11.21)PAX5 (9p13.2)::MBNL1 (3q25.1)
PAX5 (9p13.2)::MLLT3 (9p21.3)PAX5 (9p13.2)::NCOA5 (20q13.12)PAX5 (9p13.2)::NCOR1 (17p12)
PAX5 (9p13.2)::NOL4L (20q11.21)PAX5 (9p13.2)::P2RY8 (Xp22.33)PAX5 (9p13.2)::PAX5 (9p13.2)
PAX5 (9p13.2)::PML (15q24.1)PAX5 (9p13.2)::POM121 (7q11.23)PAX5 (9p13.2)::RHOXF2 (Xq24)
PAX5 (9p13.2)::RNF38 (9p13.2)PAX5 (9p13.2)::SLCO1B3 (12p12.2)PAX5 (9p13.2)::SP2 (17q21.32)
PAX5 (9p13.2)::TAF3 (10p14)PAX5 (9p13.2)::TAOK1 (17q11.2)PAX5 (9p13.2)::TMEM14B (6p24.2)
PAX5 (9p13.2)::TMEM9B (11p15.4)PAX5 (9p13.2)::ZCCHC7 (9p13.2)PAX5 (9p13.2)::ZNF276 (16q24.3)
PAX5 (9p13.2)::ZNF521 (18q11.2)PLAC1 (Xq26.3)::PAX5 (9p13.2)PML (15q24.1)::PAX5 (9p13.2)
SPATA48 (7p12.2)::PAX5 (9p13.2)STPG1 (1p36.11)::PAX5 (9p13.2)TMPRSS9 (19p13.3)::PAX5 (9p13.2)
ZCCHC7 (9p13.2)::PAX5 (9p13.2)ZNF521 (18q11.2)::PAX5 (9p13.2)

DNA/RNA

Description The PAX5 coding region extends over a genomic interval of approximately 200 kb and comprises 10 exons.
Transcription Two alternative transcripts have been identified, originating from alternative promotor usage, containing exon 1A or 1B; full length mRNA is 3650 bp; transcription is from centromere to telomere.

Protein

 
Description 391 amino acids, 42 kDa, PAX5 belongs to the paired box family of transcription factors, contains a paired box (DNA binding) domain, a truncated homeo domain homology region, and a transactivation domain.
Expression B lymphocytes, the developing CNS, and adult testis.
Localisation Nuclear.
Function Involved in a multitude of developmental processes, PAX5 expression is not only continuously required for B cell lineage commitment during early B cell development but also for B lineage maintenance, involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.

Implicated in

Note
  
Entity lymphoproliferative disorders
Hybrid/Mutated Gene PAX5 - IGH juxtaposition
  
  
Entity acute lymphoblastic leukemia
Hybrid/Mutated Gene PAX5 - ETV6
  

Breakpoints

 

Bibliography

A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation.
Barberis A, Widenhorn K, Vitelli L, Busslinger M
Genes & development. 1990 ; 4 (5) : 849-859.
PMID 2116362
 
Transcriptional control of early B cell development.
Busslinger M
Annual review of immunology. 2004 ; 22 : 55-79.
PMID 15032574
 
The paired box domain gene PAX5 is fused to ETV6/TEL in an acute lymphoblastic leukemia case.
Cazzaniga G, Daniotti M, Tosi S, Giudici G, Aloisi A, Pogliani E, Kearney L, Biondi A
Cancer research. 2001 ; 61 (12) : 4666-4670.
PMID 11406533
 
Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.
Fuxa M, Skok J, Souabni A, Salvagiotto G, Roldan E, Busslinger M
Genes & development. 2004 ; 18 (4) : 411-422.
PMID 15004008
 
Expression of the PAX5/BSAP transcription factor in haematological tumour cells and further molecular characterization of the t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
Hamada T, Yonetani N, Ueda C, Maesako Y, Akasaka H, Akasaka T, Ohno H, Kawakami K, Amakawa R, Okuma M
British journal of haematology. 1998 ; 102 (3) : 691-700.
PMID 9722295
 
Pax5 is required for recombination of transcribed, acetylated, 5' IgH V gene segments.
Hesslein DG, Pflugh DL, Chowdhury D, Bothwell AL, Sen R, Schatz DG
Genes & development. 2003 ; 17 (1) : 37-42.
PMID 12514097
 
The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.
Iida S, Rao PH, Nallasivam P, Hibshoosh H, Butler M, Louie DC, Dyomin V, Ohno H, Chaganti RS, Dalla-Favera R
Blood. 1996 ; 88 (11) : 4110-4117.
PMID 8943844
 
Reversion of B cell commitment upon loss of Pax5 expression.
Mikkola I, Heavey B, Horcher M, Busslinger M
Science (New York, N.Y.). 2002 ; 297 (5578) : 110-113.
PMID 12098702
 
Commitment to the B-lymphoid lineage depends on the transcription factor Pax5.
Nutt SL, Heavey B, Rolink AG, Busslinger M
Nature. 1999 ; 401 (6753) : 556-562.
PMID 10524622
 
Essential functions of Pax5 (BSAP) in pro-B cell development: difference between fetal and adult B lymphopoiesis and reduced V-to-DJ recombination at the IgH locus.
Nutt SL, Urbanek P, Rolink A, Busslinger M
Genes & development. 1997 ; 11 (4) : 476-491.
PMID 9042861
 
t(9;14)(p13;q32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation.
Offit K, Parsa NZ, Filippa D, Jhanwar SC, Chaganti RS
Blood. 1992 ; 80 (10) : 2594-2599.
PMID 1384792
 
The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
Ohno H, Ueda C, Akasaka T
Leukemia & lymphoma. 2000 ; 36 (5-6) : 435-445.
PMID 10784387
 
PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements.
Poppe B, De Paepe P, Michaux L, Dastugue N, Bastard C, Herens C, Moreau E, Cavazzini F, Yigit N, Van Limbergen H, De Paepe A, Praet M, De Wolf-Peeters C, Wlodarska I, Speleman F
Genes, chromosomes & cancer. 2005 ; 44 (2) : 218-223.
PMID 15942942
 
Transcriptional control of B-cell development.
Schebesta M, Heavey B, Busslinger M
Current opinion in immunology. 2002 ; 14 (2) : 216-223.
PMID 11869895
 
Pax5 promotes B lymphopoiesis and blocks T cell development by repressing Notch1.
Souabni A, Cobaleda C, Schebesta M, Busslinger M
Immunity. 2002 ; 17 (6) : 781-793.
PMID 12479824
 
PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).
Strehl S, Konig M, Dworzak MN, Kalwak K, Haas OA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2003 ; 17 (6) : 1121-1123.
PMID 12764378
 
PAX5 expression in acute leukemias: higher B-lineage specificity than CD79a and selective association with t(8;21)-acute myelogenous leukemia.
Tiacci E, Pileri S, Orleth A, Pacini R, Tabarrini A, Frenguelli F, Liso A, Diverio D, Lo-Coco F, Falini B
Cancer research. 2004 ; 64 (20) : 7399-7404.
PMID 15492262
 

Citation

This paper should be referenced as such :
Strehl, S
PAX5 (paired box gene 5)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):313-314.
Free journal version : [ pdf ]   [ DOI ]
History of this paper:
Strehl, S. PAX5 (paired box gene 5). Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):61-62.
http://documents.irevues.inist.fr/bitstream/handle/2042/38062/01-2004-PAX5ID62.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 68 ]
  Classification of B-cell non-Hodgkin lymphomas (NHL)
Classical Hodgkin lymphoma
del(5)(q32q33) EBF1::PDGFRB
del(6q)
del(9p) in Acute Lymphoblastic Leukemia
dic(3;9)(p14;p13) PAX5::FOXP1
dic(7;9)(p11-13;p11)
dic(7;9)(p11-12;p12-13) PAX5::LOC392027
dic(9;12)(p13;p13) PAX5::ETV6
dic(9;12)(p13;p12) PAX5::SLCO1B3
dic(9;16)(p13;q11) PAX5::?
dic(9;17)(p13;q11) PAX5::TAOK1
dic(9;18)(p13;q11) PAX5::ZNF521
dic(9;20)(p11-13;q11) PAX5::Various
EBV positive DLBCL, NOS
Hodgkin lymphoma
Lymphoplasmacytic lymphoma
Acute lymphoblastic leukemia in Down syndrome
Nodular lymphocyte-predominant Hodgkin lymphoma
Plasmablastic lymphoma (PBL)
t(1;9)(p13;p12) PAX5::HIPK1
t(2;9)(p24;p13) PAX5::KIDINS220
t(5;9)(q14.1;p24) SSBP2::JAK2
t(6;14)(p22;q32) IGH::ID4
t(7;9)(q11;p12) PAX5::POM121
t(7;9)(q11;p13) PAX5::ELN
t(7;9)(q11.2;p13.2) PAX5::AUTS2
t(8;9)(q24;p13) ?::MYC
t(9;9)(p13;p24) PAX5::JAK2::del(9)(p13p24) PAX5::JAK2::inv(9)(p13p24) PAX5::JAK2
t(9;13)(p12;q21) PAX5::DACH1
t(9;14)(p13;q32) PAX5::IGH
t(9;15)(p13;q24) PAX5::PML
t(9;15)(p13;q24) PAX5::GOLGA6A
t(9;17)(p13;p12) PAX5::NCOR1
t(9;22)(p13;q13) PAX5::BRD1
dic(9;20)(p13;q11) PAX5::ASXL1
dic(9;20)(p13;q11) PAX5::NOL4L
dic(9;20)(p13;q11) PAX5::KIF3B
t(1;9)(p32;p13) PAX5::DMRTA2
t(3;9)(q25;p13) MBNL1::PAX5
t(3;9)(q25;p13) PAX5::MBNL1
t(6;9)(p24;p13) PAX5::TMEM14B
t(7;9)(q21;p13) PAX5::GRM3
t(9;9)(p13;p13) PAX5::RNF38
t(9;9)(p13;p13) PAX5::ZCCHC7
t(9;9)(p13;p13) ZCCHC7::PAX5
t(9;9)(p13;p21) PAX5::MLLT3
t(9;9)(p13;p24) PAX5::KANK1
t(9;9)(p13;q32) PAX5::FKBP15
t(9;10)(p13;p14) PAX5::TAF3
t(9;11)(p13;p14) PAX5::KIAA1549L
t(9;11)(p13;p15) DBX1::PAX5
t(9;12)(p13;q24) FBRSL1::PAX5
t(9;12)(p13;q24) PAX5::FBRSL1
t(9;14)(p13;q24) PAX5::ESRRB
t(9;16)(p13;q24) PAX5::CBFA2T3
t(9;16)(p13;q24) PAX5::ZNF276
t(9;17)(p13;q21) PAX5::SP2
t(9;18)(p13;p11) EMILIN2::PAX5
t(9;19)(p13;p13) TMPRSS9::PAX5
t(9;20)(p13;q13) PAX5::NCOA5
t(X;9)(p11;p13) PAX5::BCOR
t(X;9)(p22;p13) P2RY8::PAX5
t(X;9)(p22;p13) PAX5::P2RY8
t(X;9)(q24;p13) PAX5::RHOXF2
Histiocyte-rich B-cell lymphoma
t(X;9)(q21;p13) PAX5::DACH2
Waldenstrom's macroglobulinemia (published in 2002)


External links

Nomenclature
HGNC (Hugo)PAX5   8619
Cards
AtlasPAX5ID62
Entrez_Gene (NCBI)PAX5    paired box 5
AliasesALL3; BSAP
GeneCards (Weizmann)PAX5
Ensembl hg19 (Hinxton)ENSG00000196092 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196092 [Gene_View]  ENSG00000196092 [Sequence]  chr9:36833271-37034268 [Contig_View]  PAX5 [Vega]
ICGC DataPortalENSG00000196092
TCGA cBioPortalPAX5
AceView (NCBI)PAX5
Genatlas (Paris)PAX5
SOURCE (Princeton)PAX5
Genetics Home Reference (NIH)PAX5
Genomic and cartography
GoldenPath hg38 (UCSC)PAX5  -     chr9:36833271-37034268 -  9p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX5  -     9p13.2   [Description]    (hg19-Feb_2009)
GoldenPathPAX5 - 9p13.2 [CytoView hg19]  PAX5 - 9p13.2 [CytoView hg38]
ImmunoBaseENSG00000196092
Genome Data Viewer NCBIPAX5 [Mapview hg19]  
OMIM167414   615545   
Gene and transcription
Genbank (Entrez)AF080573 AY463952 AY463953 AY463954 AY463955
RefSeq transcript (Entrez)NM_001280547 NM_001280548 NM_001280549 NM_001280550 NM_001280551 NM_001280552 NM_001280553 NM_001280554 NM_001280555 NM_001280556 NM_016734
Consensus coding sequences : CCDS (NCBI)PAX5
Gene ExpressionPAX5 [ NCBI-GEO ]   PAX5 [ EBI - ARRAY_EXPRESS ]   PAX5 [ SEEK ]   PAX5 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX5 [ Firebrowse - Broad ]
GenevisibleExpression of PAX5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5079
GTEX Portal (Tissue expression)PAX5
Human Protein AtlasENSG00000196092-PAX5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PAX5
Human Protein Atlas [tissue]ENSG00000196092-PAX5 [tissue]
HPRD01334
Protein Interaction databases
BioGRIDPAX5
STRING (EMBL)PAX5
ZODIACPAX5
Ontologies - Pathways
Litterature
PubMed175 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPAX5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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