PAX5 (paired box gene 5)

2005-08-01 Sabine Strehl Affiliation

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

Identity

HGNC

PAX5

LOCATION

9p13.2

LOCUSID

5079

ALIAS

ALL3,BSAP

FUSION GENES

Show Gene Fusions

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

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

Gene ID	Transcript ID	Uniprot
ENSG00000196092	ENST00000358127	Q02548
ENSG00000196092	ENST00000377840	Q02548
ENSG00000196092	ENST00000377847	Q02548
ENSG00000196092	ENST00000377852	Q02548
ENSG00000196092	ENST00000377853	Q02548
ENSG00000196092	ENST00000414447	Q02548
ENSG00000196092	ENST00000446742	Q02548
ENSG00000196092	ENST00000520154	E7ERW5
ENSG00000196092	ENST00000520281	Q02548
ENSG00000196092	ENST00000522003	E7ERK2
ENSG00000196092	ENST00000522932	H0YB47
ENSG00000196092	ENST00000523145	E7ES87
ENSG00000196092	ENST00000523241	E7EQT0
ENSG00000196092	ENST00000523493	Q02548
ENSG00000196092	ENST00000524340	C0KTE2
ENSG00000196092	ENST00000651550	E7ERK2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Transcriptional misregulation in cancer	KEGG	ko05202
Transcriptional misregulation in cancer	KEGG	hsa05202

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/favicon/css/case-report-explorer/hgnc

Historical Card

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

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