PAX5 (paired box gene 5)

2005-08-01   Sabine Strehl  

Childrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

Identity

HGNC
LOCATION
9p13.2
LOCUSID
ALIAS
ALL3,BSAP
FUSION GENES

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.

Proteins

Atlas Image

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

Entity name
t(9;14)(p13;q23) lymphoproliferative disorders
Hybrid gene
PAX5 - IGH juxtaposition
Entity name
dic(9;12)(p13;p13) acute lymphoblastic leukemia
Hybrid gene
PAX5 - ETV6

Breakpoints

Atlas Image

Article Bibliography

Pubmed IDLast YearTitleAuthors
21163621990A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation.Barberis A et al
150325742004Transcriptional control of early B cell development.Busslinger M et al
114065332001The paired box domain gene PAX5 is fused to ETV6/TEL in an acute lymphoblastic leukemia case.Cazzaniga G et al
150040082004Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.Fuxa M et al
97222951998Expression 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 et al
125140972003Pax5 is required for recombination of transcribed, acetylated, 5' IgH V gene segments.Hesslein DG et al
89438441996The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.Iida S et al
120987022002Reversion of B cell commitment upon loss of Pax5 expression.Mikkola I et al
105246221999Commitment to the B-lymphoid lineage depends on the transcription factor Pax5.Nutt SL et al
90428611997Essential 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 et al
13847921992t(9;14)(p13;q32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation.Offit K et al
107843872000The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.Ohno H et al
159429422005PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements.Poppe B et al
118698952002Transcriptional control of B-cell development.Schebesta M et al
124798242002Pax5 promotes B lymphopoiesis and blocks T cell development by repressing Notch1.Souabni A et al
127643782003PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).Strehl S et al
154922622004PAX5 expression in acute leukemias: higher B-lineage specificity than CD79a and selective association with t(8;21)-acute myelogenous leukemia.Tiacci E et al

Other Information

Locus ID:

NCBI: 5079
MIM: 167414
HGNC: 8619
Ensembl: ENSG00000196092

Variants:

dbSNP: 5079
ClinVar: 5079
TCGA: ENSG00000196092
COSMIC: PAX5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196092ENST00000358127Q02548
ENSG00000196092ENST00000377840Q02548
ENSG00000196092ENST00000377847Q02548
ENSG00000196092ENST00000377852Q02548
ENSG00000196092ENST00000377853Q02548
ENSG00000196092ENST00000414447Q02548
ENSG00000196092ENST00000446742Q02548
ENSG00000196092ENST00000520154E7ERW5
ENSG00000196092ENST00000520281Q02548
ENSG00000196092ENST00000522003E7ERK2
ENSG00000196092ENST00000522932H0YB47
ENSG00000196092ENST00000523145E7ES87
ENSG00000196092ENST00000523241E7EQT0
ENSG00000196092ENST00000523493Q02548
ENSG00000196092ENST00000524340C0KTE2
ENSG00000196092ENST00000651550E7ERK2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
383181772024EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms.0
383181772024EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms.0
364847352023FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients.0
366566412023Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets.10
367307542023PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-α Signaling Pathway.1
367643852023Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.3
371261842023PAX5 aberrant expression incorporated in MIPI-SP risk scoring system exhibits additive value in mantle cell lymphoma.0
373356852023PAX5 fusion genes in acute lymphoblastic leukemia: A literature review.0
364847352023FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients.0
366566412023Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets.10
367307542023PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-α Signaling Pathway.1
367643852023Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.3
371261842023PAX5 aberrant expression incorporated in MIPI-SP risk scoring system exhibits additive value in mantle cell lymphoma.0
373356852023PAX5 fusion genes in acute lymphoblastic leukemia: A literature review.0
348724752022PAX5 Haploinsufficiency Induces Low T Cell Infiltration in the Cancer Microenvironment via Reduced Chemokines.0

Citation

Sabine Strehl

PAX5 (paired box gene 5)

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/gene/62/pax5-(paired-box-gene-5)

Historical Card

2004-01-01 PAX5 (paired box gene 5) by  Sabine Strehl 

Childrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria