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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PAX5 Gene

protein-coding GIFtS: 64
GCID: GC09M036828

paired box 5

(Previous names: paired box gene 5 (B-cell lineage specific activator protein),...)

Explore 75 diseases affiliated with
PAX5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Paired Box 5¹ ²		B Cell Specific Activator Protein²
BSAP¹ ² ³ ⁵		B-Cell Lineage Specific Activator²
B-Cell-Specific Transcription Factor² ³		Paired Box Homeotic Gene 5²
Paired Box Gene 5 (B-Cell Lineage Specific Activator Protein)¹		Paired Box Protein Pax-5²
Paired Box Gene 5 (B-Cell Lineage Specific Activator)¹		Transcription Factor PAX 5²

External Ids:	HGNC: 8619¹	Entrez Gene: 5079²	Ensembl: ENSG00000196092⁷	OMIM: 167414⁵	UniProtKB: Q02548³

Export aliases for PAX5 gene to outside databases

Previous GC identifers: GC09M037150 GC09M037007

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PAX5:

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. PAX proteins 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. Alternatively spliced transcript variants encoding different isoforms have been

described but their biological validity has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548

Function: May play an important role in B-cell differentiation as well as neural development and spermatogenesis.

Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene

Gene Wiki entry for PAX5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PAX5 gene promoter:
AML1a NRSF form 1 NRSF form 2 C/EBPalpha HNF-4alpha1 SRY FOXO4 COMP1 HOXA5 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PAX5 promoter sequence

Search SABiosciences Chromatin IP Primers for PAX5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PAX5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13 Ensembl cytogenetic band: 9p13.2 HGNC cytogenetic band: 9p13.2

PAX5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX5 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M036828: view genomic region (about GC identifiers)

Start:	36,833,272 bp from pter	End:	37,034,476 bp from pter
Size:	201,205 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548 (See protein sequence)

Recommended Name: Paired box protein Pax-5

Size: 391 amino acids; 42149 Da

Subunit: Interacts with DAXX (By similarity). Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its

DNA-binding properties

Subcellular location: Nucleus

Developmental stage: Expressed at early B-cell differentiation, in the developing CNS and in adult testis

2 PDB 3D structures from and Proteopedia for PAX5:

1K78 (3D)

1MDM (3D)

Secondary accessions: A3QVP6 A3QVP7 A3QVP8 O75933 Q5SFM2 Q6S728 Q6S729 Q6S730 Q6S731 Q6S732

Alternative splicing: 6 isoforms: Q02548-1 Q02548-2 Q02548-3 Q02548-4 Q02548-5 Q02548-6

Explore the universe of human proteins at neXtProt for PAX5: NX_Q02548

Post-translational modifications:

O-glycosylated (Probable)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q02548

PAX5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_057953.1

ENSEMBL proteins:

ENSP00000350844 ENSP00000367084 ENSP00000367071 ENSP00000367083 ENSP00000429637

ENSP00000429291 ENSP00000430773 ENSP00000404687 ENSP00000429359 ENSP00000429197

ENSP00000431038 ENSP00000412188 ENSP00000367078 ENSP00000429404 ENSP00000428670

Human Recombinant Protein Products:

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	Novus Biologicals PAX5 Proteins Novus Biologicals PAX5 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PAX5

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

PAX5 for ontologies About GeneDecksing

PAX5 Antibody Products:

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	Abcam antibodies for PAX5
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	ThermoFisher Antibodies for PAX5

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	GenScript Custom Assay Services for PAX5
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PAX5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PAX5 for domains About GeneDecksing

4 InterPro domains/families:

IPR001523 Paired_dom

IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom

IPR022130 Pax2_C

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q02548

ProtoNet protein and cluster: Q02548

1 Blocks protein family: IPB001523 Paired box protein

UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548

Similarity: Contains 1 paired domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548

Function: May play an important role in B-cell differentiation as well as neural development and spermatogenesis.

Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene

Genatlas biochemistry entry for PAX5:

paired box (DNA binding) containing protein 5,with a truncated homeo domain,expressed in developing central nervous

system,B cells and testis,subject to allele specific regulation during B-lymphopoiesis,involved in translocation

t(9;14)(p13;q32) with diffuse large-cell lymphoma expressing Ki-1 (CD30) antigen (see KIS1) in the related splenic

marginal zone lymphoma and in lymphoplasmacytic lymphoma

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX5
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		hsa-miR-485-5p hsa-miR-3678-3p hsa-miR-3130-5p hsa-miR-615-5p hsa-miR-4254 hsa-miR-875-3p hsa-miR-1324 hsa-miR-519e*

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Gene Editing
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PAX5
		Search LifeMap BioReagents cell lines for PAX5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX5

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	--	--

PAX5 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PAX5:

Decreased viability

Animal Models:
9 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Pax5):

behavior/neurological	cellular	growth/size	hearing/vestibular/ear	hematopoietic system
immune system	mortality/aging	nervous system	normal

PAX5 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Wnt / Hedgehog / Notch

Wnt / Hedgehog / Notch

1.00

Lymphocyte Signaling

Lymphocyte Signaling

1.00

Transcription factors in neurogenesis

Transcription factors in neurogenesis

1.00

C-MYB transcription factor network

C-MYB transcription factor network

1.00

Id Signaling Pathway

Id Signaling Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PAX5

Transcription factors in neurogenesis

2 Cell Signaling Technology (CST) Pathways for PAX5

	Wnt / Hedgehog / Notch
	Lymphocyte Signaling

2 BioSystems Pathways for PAX5

	Id Signaling Pathway
	C-MYB transcription factor network

PAX5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PAX5

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/23 Interacting proteins for PAX5 (Q02548³ ENSP00000350844⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DAXX	Q9UER7³, ENSP00000396876⁴	I2D: score=4 STRING: ENSP00000396876 STRING: ENSP00000266000
CREBBP	Q92793³, ENSP00000262367⁴	I2D: score=4 STRING: ENSP00000262367
ID3	Q02535³, ENSP00000363689⁴	I2D: score=3 STRING: ENSP00000363689
MYB	P10242³, ENSP00000339992⁴	I2D: score=3 STRING: ENSP00000339992
RUNX1	Q01196³, ENSP00000300305⁴	I2D: score=3 STRING: ENSP00000300305

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0006351	transcription, DNA-dependent	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	10524622
GO:0006959	humoral immune response	TAS	10524629

PAX5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PAX5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PAX5
10/33 Novoseek chemical compound relationships for PAX5 gene (see all 33) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
deoxypyridinoline	73.4	24	16027954 (3), 11451617 (2), 17007022 (2), 10652955 (1) (see all 13)
alendronate	66.2	12	14671165 (2), 11354395 (1), 15240609 (1), 18982918 (1) (see all 9)
risedronate	59.5	5	16696745 (2), 11354395 (1), 16781904 (1), 13678475 (1)
cytidine	55.8	1	16541139 (1)
teriparatide	52.6	1	16709314 (1)
[alcl]	52.3	1	15116326 (1)
2-methoxyestradiol	51	4	18192112 (2), 17257674 (1)
vitamin d	48.9	3	18826856 (2), 11731182 (1)
pyridinoline	48.3	5	12510820 (1), 16652430 (1), 9626638 (1)
25-hydroxyvitamin d	45.4	4	15479594 (1), 11420782 (1), 16696745 (1), 19841860 (1)

Search CenterWatch for drugs/clinical trials and news about PAX5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PAX5 gene:

NM_016734.1

Unigene Cluster for PAX5:

Paired box 5

Hs.654464 [show with all ESTs]

Unigene Representative Sequence: NM_016734

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000358127(uc011lpt.1 uc011lpu.1 uc011lpv.1 uc003zzo.1 uc011lpw.1 uc011lpx.1 uc011lpy.1 uc010mls.1 uc011lpz.1 uc011lqa.1 uc010mlq.1 uc011lqb.1 uc010mlo.1 uc010mlp.1 uc011lqc.1 uc010mlr.1)

ENST00000377853 ENST00000377840 ENST00000377852 ENST00000523241 ENST00000520154

ENST00000520281 ENST00000446742(uc011lqd.1) ENST00000522003 ENST00000523145(uc011lqe.1 uc011lqf.1 uc011lqg.1)

ENST00000523493 ENST00000414447 ENST00000377847 ENST00000524340 ENST00000522932

ENST00000520083

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX5
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate PAX5 (see all 12):
		hsa-miR-485-5p hsa-miR-3678-3p hsa-miR-3130-5p hsa-miR-615-5p hsa-miR-4254 hsa-miR-875-3p hsa-miR-1324 hsa-miR-519e*

		SwitchGear 3'UTR luciferase reporter plasmid: PAX5 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAX5

Additional cDNA sequence:

AF080573.1 AY463952.1 AY463953.1 AY463954.1 AY463955.1 AY463956.1 AY463957.1 FJ626406.1

FJ626407.1 FJ626408.1 FJ626409.1 FJ626410.1 FJ626411.1 FJ626412.1 FJ626413.1 FJ626414.1

FJ626415.1 FJ626416.1 FJ626417.1 FJ626418.1 FJ626419.1 FJ626420.1 FJ626421.1 FJ626422.1

FJ626423.1 FJ626424.1 FJ626425.1 M96944.1 U62539.1

4 DOTS entries:

DT.100739385 DT.101981988 DT.95158876 DT.99999378

24/184 AceView cDNA sequences (see all 184):

AA995042 AI223402 AW575694 BE676010 AA737457 BM802854 NM_016734 AY463955

BU431136 AW502050 AA283934 AW502443 AY463953 BM466208 AA761870 CF143256

AI248183 M96944 AW502288 BQ213182 AA736581 BU180940 AW502330 AA811569

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for PAX5 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9
SP1:
SP2:													-
SP3:											-
SP4:											-		-
SP5:											-		-		-

ECgene alternative splicing isoforms for PAX5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PAX5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGGAGAAA

About this image

PAX5 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Blood

Peripheral Blood

B-cell Progenitor Cells

Blood

Peripheral Blood

Common Lymphoid Progenitor Cells

Blood

Blood

Blood

Blood

Neural Ectoderm

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PAX5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PAX5

SOURCE GeneReport for Unigene cluster: Hs.654464

SABiosciences Expression via Pathway-Focused PCR Arrays including PAX5:

Neurogenesis in human mouse rat

Lung Cancer in human mouse rat

Stem Cell Transcription Factors in human mouse rat

Notch Signaling Pathway in human mouse rat

Hematopoiesis in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX5

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PAX5 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PAX5¹	paired box 5	82.01(n) 93.86(a)		387330 NM_204424.1 NP_989755.1
lizard (Anolis carolinensis)	Reptilia	PAX5⁶	--	96(a)	1 ↔ 1	GL343201.1(3094781-3339110)
African clawed frog (Xenopus laevis)	Amphibia	pax5-A-prov²	paired box protein	77.88(n)		AJ010503.1
zebrafish (Danio rerio)	Actinopterygii	pax5²	paired box gene 5	76.52(n)		60636 AF072548.1
fruit fly (Drosophila melanogaster)	Insecta	Poxn³	antennal morphogenesis specific RNA polymerase more	73(a) (best of 3)		52C7 --
worm (Caenorhabditis elegans)	Secernentea	egl-38³	Human paired box protein like	72(a) (best of 3)		IV(10106948-10109578) --

ENSEMBL Gene Tree for PAX5 (if available)
TreeFam Gene Tree for PAX5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PAX5 gene

PAX2² PAX8² PAX9² PAX1² PAX7² PAX3² PAX6² PAX4²

10 SIMAP similar genes for PAX5 using alignment to 27 protein entries: PAX5_HUMAN (see all proteins):

PAX6 PAX2 PAX8 PAX9 PAX1 PAX4

PAX3 Pax9 PAX7 PAX7B

PAX5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73451129^1,2	C,	--	36838063(+)	`AGAGAT/GGCCAG`	1	--	ds500¹		2		WA	120
rs148419114^1,2		--	36838254(+)	`GGCTTC/TCTTGG`	1	--	ds500¹		0	--	--	--	--
rs41311422^1,2	F,	--	36838301(+)	`CAGAAC/ACATCT`	1	--	ds500¹		1		NA	120
rs142513379^1,2		--	36838329(+)	`CAACTA/CTCCTC`	1	--	ds500¹		0	--	--	--	--
rs73451131^1,2	C,	--	36838370(+)	`ACAGGG/AAACAC`	1	--	ds500¹		2		WA	120
rs150924726^1,2		--	36838511(+)	`CTTAGC/TGGTGG`	1	--	ds500¹		0	--	--	--	--
rs74501955^1,2		--	36838541(+)	`TCTCCC/ATGCAT`	1	--	ut3¹		1		WA	118
rs142653114^1,2		--	36838668(+)	`AAATAC/TTATTG`	1	--	ut3¹		0	--	--	--	--
rs112741299^1,2		--	36838681(+)	`CCTCAG/AGTGCC`	1	--	ut3¹		1		CSA	2
rs192418438^1,2		--	36838787(+)	`TGGGGG/TGGCCC`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PAX5 (36833272 - 37034476 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for PAX5
2 CNVs: 52812 1823
2 Indels: 70548 60745
Human Gene Mutation Database (HGMD): PAX5

3 SABiosciences Cancer Mutation PCR Assays for PAX5:

Cosmic Id	AA Change
85953	p.P80R
85951	p.V26G
85890	p.A322fs*19

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PAX5

DNA2.0 Custom Variant and Variant Library Synthesis for PAX5

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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PAX5 for disorders About GeneDecksing

OMIM gene information: 167414 OMIM disorders: --

UniProtKB/Swiss-Prot: PAX5_HUMAN, Q02548

Note=A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation

t(9;18)(p13;q11.2) with ZNF521. Translocation t(9;3)(p13;p14.1) with FOXP1. Translocation t(9;12)(p13;p13) with ETV6

20/75 diseases for PAX5 (see all 75): About MalaCards

marginal zone b-cell lymphoma central nervous system lymphoma splenic marginal zone lymphoma b-cell non-hodgkin lymphoma

anaplastic large cell lymphoma diffuse large b-cell lymphoma non-hodgkin lymphoma b-cell lymphomas

lymphoplasmacytoid lymphoma lymphoplasmacytic lymphoma osteoporosis, postmenopausal pediatric crohns disease

primary effusion lymphoma hodgkin's lymphoma lymphocytic leukemia burkitt's lymphoma

juvenile rheumatoid arthritis alveolar rhabdomyosarcoma paget's disease of bone secondary hyperparathyroidism

3 diseases from the University of Copenhagen DISEASES database for PAX5:

Lymphoma Leukemia Macroglobulinemia

10/50 Novoseek disease relationships for PAX5 gene (see all 50) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lymphoma b-cell	74.5	30	19725825 (3), 16049306 (3), 9694719 (2), 15832095 (2) (see all 15)
waldenstrom macroglobulinemia	73.6	12	10350329 (2), 15116325 (2), 8943844 (1), 9570138 (1) (see all 7)
hodgkin disease	67.4	19	12609061 (2), 16648862 (2), 20118907 (2), 12360049 (2) (see all 11)
lymphoma	64.5	56	9694719 (3), 9808580 (3), 9850179 (3), 19100628 (3) (see all 24)
lymphoma small lymphocytic	60.6	2	9808580 (1), 8650231 (1)
lymphoma non-hodgkins	60.4	18	16648862 (3), 19100628 (2), 9694719 (1), 17016584 (1) (see all 13)
anaplastic large cell lymphoma	60.4	14	20118907 (6), 10556196 (2), 12609061 (1), 16185503 (1) (see all 5)
osteoporosis	59.6	5	14671165 (2), 20493428 (1), 14962813 (1), 17007022 (1)
b-all	57.7	16	16584581 (7), 20160164 (5), 16938666 (2), 20023257 (2)
lymphoma follicular	56.5	8	9694719 (1), 16799206 (1), 18945749 (1), 16185503 (1)

Human Genome Epidemiology (HuGE) Navigator: PAX5 (4 documents)

Export disorders for PAX5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PAX5 gene, integrated from 9 sources (see all 368):
(articles sorted by number of sources associating them with PAX5)

Utopia: connect your pdf to the dynamic
world of online information

Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis. (PubMed id 1516825)^{1, 2, 3, 9} Adams B.... Busslinger M. (1992)
Human Pax-5 C-terminal isoforms possess distinct transactivation properties and are differentially modulated in normal and malignant B cells. (PubMed id 15385562)^{1, 2, 9} Robichaud G.A....Ouellette R.J. (2004)
Structural studies of Ets-1/Pax5 complex formation on DNA. (PubMed id 11779502)^{1, 2, 9} Garvie C.W....Wolberger C. (2001)
Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family. (PubMed id 10811620)^{1, 2} Eberhard D.... Busslinger M. (2000)
Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR). (PubMed id 9742255)^{1, 2} Verkoczy L.K. and Berinstein N.L. (1998)
Mapping of the human homologs of the murine paired-box-containing genes. (PubMed id 8431641)^{1, 3} Pilz A.J....Abbott C.M. (1993)
Highly cooperative recruitment of Ets-1 and release o f autoinhibition by Pax5. (PubMed id 19616560)^{1, 9} Fitzsimmons D....Hagman J. (2009)
PAX5-positive T-cell anaplastic large cell lymphomas associated with extra copies of the PAX5 gene locus. (PubMed id 20118907)^{1, 9} Feldman A.L....Macon W.R. (2010)
PAX5 is expressed in small-cell lung cancer and positively regulates c-Met transcription. (PubMed id 19139719)^{1, 9} Kanteti R....Salgia R. (2009)
Pax-5 protein expression in bladder cancer: a preliminary study that shows no correlation to grade, stage or clinical outcome. (PubMed id 18604731)^{1, 9} Denzinger S....Stoehr R. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5079	HGNC: 8619	AceView: PAX5	Ensembl:ENSG00000196092	euGenes: HUgn5079
ECgene: PAX5	H-InvDB: PAX5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PAX5	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PAX5	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for PAX5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PAX5 gene:
Search GeneIP for patents involving PAX5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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