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FLASH GENE

Symbol

PAX5

contributors: mct - updated : 27-08-2015

HGNC name	paired box 5
HGNC id	8619

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       with IGH in t(9;14)(p13;q32) with diffuse large-cell lymphoma expressing Ki-1 (CD30) antigen, in the related splenic marginal zone lymphoma and in lymphoplasmacytic lymphoma tumoral somatic mutation       in acute lymphoblastic leukaemia tumoral   deletion     in acute lymphoblastic leukaemia tumoral fusion       with ETV6 in t(9;12) (q11;p13) in acute lymphoblastic leukemia tumoral fusion       fused with the elastin (ELN) by t(7;9)(q11;p13) translocation in B-cell acute lymphoblastic leukemia (B-ALL) tumoral   translocation     recurrent t(9;15)(p13;q24) in two cases of childhood ALL, with fusion of PAX5 to PML (putative PAX5-PML fusion gene encodes a chimaeric protein that retains the paired domain) tumoral fusion       with ASXL, in t(9;20)(p11-13;q11) in patients with acute lymphoblastic leukemia tumoral fusion       with FOXP1 in t(3;9)(p13;p13) recurrent in both childhood and in adult B-ALL tumoral fusion       PAX5-AUTS2 is a recurrent fusion gene (t(7;9)(q11.2;p13.2)) in pediatric B-cell precursor acute lymphoblastic leukemia

Susceptibility

to B cell leukemia

Variant & Polymorphism other	p.Gly183Ser retains sufficient transcriptional regulatory activity for grossly normal B cell development in the presence of one wild-type copy of PAX5, but it does not have sufficient activity to prevent leukemogenesis after loss of the wild-type PAX5 allele

Candidate gene
Marker	most sensitive and reliable immunohistochemical marker for B-cell malignancies
Therapy target
	System Type Disorder Pubmed cancer hemopathy   possibility that acute lymphoblastic leukemia with PAX5-PML can be treated with arsenic trioxide

ANIMAL & CELL MODELS