PAX5 (paired box gene 5)
2005-08-01 Sabine Strehl AffiliationChildrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
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
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 2116362 | 1990 | A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation. | Barberis A et al |
| 15032574 | 2004 | Transcriptional control of early B cell development. | Busslinger M et al |
| 11406533 | 2001 | The paired box domain gene PAX5 is fused to ETV6/TEL in an acute lymphoblastic leukemia case. | Cazzaniga G et al |
| 15004008 | 2004 | Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene. | Fuxa M et al |
| 9722295 | 1998 | 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 et al |
| 12514097 | 2003 | Pax5 is required for recombination of transcribed, acetylated, 5' IgH V gene segments. | Hesslein DG et al |
| 8943844 | 1996 | The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene. | Iida S et al |
| 12098702 | 2002 | Reversion of B cell commitment upon loss of Pax5 expression. | Mikkola I et al |
| 10524622 | 1999 | Commitment to the B-lymphoid lineage depends on the transcription factor Pax5. | Nutt SL et al |
| 9042861 | 1997 | 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 et al |
| 1384792 | 1992 | t(9;14)(p13;q32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation. | Offit K et al |
| 10784387 | 2000 | The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma. | Ohno H et al |
| 15942942 | 2005 | PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements. | Poppe B et al |
| 11869895 | 2002 | Transcriptional control of B-cell development. | Schebesta M et al |
| 12479824 | 2002 | Pax5 promotes B lymphopoiesis and blocks T cell development by repressing Notch1. | Souabni A et al |
| 12764378 | 2003 | PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13). | Strehl S et al |
| 15492262 | 2004 | PAX5 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
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transcriptional misregulation in cancer | KEGG | ko05202 |
| Transcriptional misregulation in cancer | KEGG | hsa05202 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38318177 | 2024 | EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms. | 0 |
| 38318177 | 2024 | EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms. | 0 |
| 36484735 | 2023 | FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients. | 0 |
| 36656641 | 2023 | Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets. | 10 |
| 36730754 | 2023 | PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-α Signaling Pathway. | 1 |
| 36764385 | 2023 | Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia. | 3 |
| 37126184 | 2023 | PAX5 aberrant expression incorporated in MIPI-SP risk scoring system exhibits additive value in mantle cell lymphoma. | 0 |
| 37335685 | 2023 | PAX5 fusion genes in acute lymphoblastic leukemia: A literature review. | 0 |
| 36484735 | 2023 | FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients. | 0 |
| 36656641 | 2023 | Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets. | 10 |
| 36730754 | 2023 | PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-α Signaling Pathway. | 1 |
| 36764385 | 2023 | Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia. | 3 |
| 37126184 | 2023 | PAX5 aberrant expression incorporated in MIPI-SP risk scoring system exhibits additive value in mantle cell lymphoma. | 0 |
| 37335685 | 2023 | PAX5 fusion genes in acute lymphoblastic leukemia: A literature review. | 0 |
| 34872475 | 2022 | PAX5 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
Historical Card
2004-01-01 PAX5 (paired box gene 5) by Sabine Strehl Affiliation
Childrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
