Expression of PAX5 in cancer - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	PAX5
Gene description	Paired box 5
Protein class	Cancer-related genes Disease related genes Predicted intracellular proteins Transcription factors
Predicted localization	Intracellular
Number of transcripts	13
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Mixed
HPA (cell line):	Group enriched (Daudi, REH, U-698)
HPA (normal tissue):	Tissue enhanced (lymph node, spleen, tonsil)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Highly specific nuclear expression in immune cells accumulated in germinal reaction centers.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data.
Reliability score	Supported based on 3 antibodies. HPA056394 , CAB026269 , CAB026869
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Mixed

PROTEIN EXPRESSION

STAINING SUMMARY

HPA056394	CAB026269	CAB026869

GENE INFORMATION
Gene name	PAX5 (HGNC Symbol)
Synonyms	BSAP
Description	Paired box 5 (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Chromosome	9
Cytoband	p13.2
Chromosome location (bp)	36833275 - 37034185
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000196092 (version 83.38)
Entrez gene	5079
UniProt	Q02548 (UniProt - Evidence at protein level)
neXtProt	NX_Q02548
Antibodypedia	PAX5 antibodies

PROTEIN BROWSER

PAX5-001	PAX5-003	PAX5-004	PAX5-005	PAX5-006	PAX5-007	PAX5-008	PAX5-009	PAX5-010	PAX5-012	PAX5-013	PAX5-014	PAX5-015

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PAX5-001 ENSP00000350844 ENST00000358127	Q02548 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006959 [humoral immune response] GO:0007275 [multicellular organismal development] GO:0007283 [spermatogenesis] GO:0007568 [aging] GO:0009887 [organ morphogenesis] GO:0021670 [lateral ventricle development] GO:0021987 [cerebral cortex development] GO:0030534 [adult behavior] GO:0035914 [skeletal muscle cell differentiation] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0051573 [negative regulation of histone H3-K9 methylation] Show all	391 aa 42.1 kDa	No	0
PAX5-003 ENSP00000367083 ENST00000377852	Q02548 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006959 [humoral immune response] GO:0007275 [multicellular organismal development] GO:0007283 [spermatogenesis] GO:0009887 [organ morphogenesis] Show all	357 aa 38.8 kDa	No	0
PAX5-004 ENSP00000367084 ENST00000377853	Q02548 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006959 [humoral immune response] GO:0007275 [multicellular organismal development] GO:0007283 [spermatogenesis] GO:0009887 [organ morphogenesis] Show all	362 aa 38.9 kDa	No	0
PAX5-005 ENSP00000430773 ENST00000520281	Q02548 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006959 [humoral immune response] GO:0007275 [multicellular organismal development] GO:0007283 [spermatogenesis] GO:0009887 [organ morphogenesis] Show all	319 aa 34.6 kDa	No	0
PAX5-006 ENSP00000429637 ENST00000523241	E7EQT0 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007275 [multicellular organismal development] Show all	324 aa 35.3 kDa	No	0
PAX5-007 ENSP00000429291 ENST00000520154	E7ERW5 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007275 [multicellular organismal development] Show all	295 aa 32.5 kDa	No	0
PAX5-008 ENSP00000404687 ENST00000446742	Q02548 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006959 [humoral immune response] GO:0007275 [multicellular organismal development] GO:0007283 [spermatogenesis] GO:0009887 [organ morphogenesis] Show all	291 aa 31.4 kDa	No	0
PAX5-009 ENSP00000429359 ENST00000522003	E7ERK2 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0006355 [regulation of transcription, DNA-templated] Show all	283 aa 30.3 kDa	No	0
PAX5-010 ENSP00000429197 ENST00000523145	E7ES87 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0006355 [regulation of transcription, DNA-templated] Show all	220 aa 23.7 kDa	No	0
PAX5-012 ENSP00000367078 ENST00000377847	Q02548 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006959 [humoral immune response] GO:0007275 [multicellular organismal development] GO:0007283 [spermatogenesis] GO:0009887 [organ morphogenesis] Show all	328 aa 35.5 kDa	No	0
PAX5-013 ENSP00000412188 ENST00000414447	Q02548 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006959 [humoral immune response] GO:0007275 [multicellular organismal development] GO:0007283 [spermatogenesis] GO:0009887 [organ morphogenesis] Show all	348 aa 37.8 kDa	No	0
PAX5-014 ENSP00000429404 ENST00000524340	C0KTE2 [Direct mapping] B cell specific activator protein variant insert 6/7; Paired box protein Pax-5 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		218 aa 23.8 kDa	No	0
PAX5-015 ENSP00000428670 ENST00000522932	H0YB47 [Direct mapping] Paired box protein Pax-5 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		60 aa 6 kDa	No	0