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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PAX4 Gene

protein-coding GIFtS: 62
GCID: GC07M127250

paired box 4

(Previous name: paired box gene 4 )

Explore 22 diseases affiliated with
PAX4 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 4¹ ²
MODY9¹ ² ⁵
Paired Box Gene 4¹ ²
KPD² ⁵
Paired Box Protein Pax-4²
Paired Domain Gene 4²

External Ids:	HGNC: 8618¹	Entrez Gene: 5078²	Ensembl: ENSG00000106331⁷	OMIM: 167413⁵	UniProtKB: O43316³

Export aliases for PAX4 gene to outside databases

Previous GC identifers: GC07M125728 GC07M126791 GC07M126804 GC07M126844 GC07M127037 GC07M121611

(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 PAX4:

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically

contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during

fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse

studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316

Function: Plays an important role in the differentiation and development of pancreatic islet beta cells.

Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes

with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4

transcriptional activity

Gene Wiki entry for PAX4

(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_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PAX4 gene promoter:
SRF Pax-5 AML1a Pbx1a SRF (504 AA) POU6F1 (c2) AP-2gamma LCR-F1 AREB6 Egr-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PAX4 promoter sequence

Search SABiosciences Chromatin IP Primers for PAX4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PAX4

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

Entrez Gene cytogenetic band: 7q32 Ensembl cytogenetic band: 7q32.1 HGNC cytogenetic band: 7q32.1

PAX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX4 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M127250: view genomic region (about GC identifiers)

Start:	127,250,346 bp from pter	End:	127,255,982 bp from pter
Size:	5,637 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 126,633,785-126,639,226

(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: PAX4_HUMAN, O43316 (See protein sequence)

Recommended Name: Paired box protein Pax-4

Size: 350 amino acids; 37833 Da

Subcellular location: Nucleus

Sequence caution: Sequence=AC073934; Type=Miscellaneous discrepancy; Note=According to the human genome assembly there

is a stop codon in position 349;

Secondary accessions: O95161 Q6B0H0

Alternative splicing: 3 isoforms: O43316-1 O43316-2 O43316-4 (Variant in position: 321:H->P (associated with susceptibility to IDDM, dbSNP:rs712701))

Explore the universe of human proteins at neXtProt for PAX4: NX_O43316

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O43316

PAX4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006184.2

ENSEMBL proteins:

ENSP00000339906 ENSP00000368014 ENSP00000451923 ENSP00000344297

Reactome Protein details: O43316
Human Recombinant Protein Products:

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	Novus Biologicals PAX4 Protein Novus Biologicals PAX4 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PAX4

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005730	NOT nucleolus	IDA	--

PAX4 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for PAX4

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

PAX4 for domains About GeneDecksing

5 InterPro domains/families:

IPR001523 Paired_dom

IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom

IPR017970 Homeobox_CS

IPR001356 Homeodomain

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O43316

ProtoNet protein and cluster: O43316

1 Blocks protein family: IPB001523 Paired box protein

UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316

Similarity: Belongs to the paired homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

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: PAX4_HUMAN, O43316

Function: Plays an important role in the differentiation and development of pancreatic islet beta cells.

Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes

with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4

transcriptional activity

Genatlas biochemistry entry for PAX4:

paired box (DNA binding) containing protein 4,with homeo domain,predominantly expressed in placenta and skeletal

muscle,also expressed in heart and pancreas,essential for differentiation of insulin-producing beta-cells

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX4
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate PAX4:
		hsa-miR-125a-3p hsa-miR-376c hsa-miR-556-3p hsa-miR-1207-5p hsa-miR-3918
		SwitchGear 3'UTR luciferase reporter plasmid: PAX4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAX4 (see all 7) OriGene shRNA RFP: PAX4 OriGene siRNA: PAX4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAX4

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PAX4

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: PAX4 (NM_006193)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX4

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PAX4
		Search LifeMap BioReagents cell lines for PAX4

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX4

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	TAS	9480859
GO:0003690	double-stranded DNA binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0016564	transcription repressor activity	--	--
GO:0043565	sequence-specific DNA binding	IEA	--

PAX4 for ontologies About GeneDecksing

Animal Models:
4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Pax4):

endocrine/exocrine gland

growth/size

mortality/aging

normal

PAX4 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

Regulation of beta-cell development

Regulation of beta-cell development

1.00

Maturity onset diabetes of the young

0.56

NEUROG3-dependent synthesis of PAX4 protein

NEUROG3-dependent synthesis of PAX4 protein

1.00

Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

1.00

Axon guidance

Developmental Biology

0.69

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Reactome Pathways for PAX4

	Developmental Biology
	NEUROG3-dependent synthesis of PAX4 protein
	Regulation of beta-cell development
	Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

1 Kegg Pathway (Kegg details for PAX4):

Maturity onset diabetes of the young

PAX4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PAX4

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for PAX4 (ENSP00000339906⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NEUROG3	ENSP00000242462⁴	STRING: ENSP00000242462

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): 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	IEA	--
GO:0007275	multicellular organismal development	--	--
GO:0007623	circadian rhythm	IEA	--
GO:0009887	organ morphogenesis	TAS	9480859

PAX4 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

PAX4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PAX4
1 Novoseek chemical compound relationship for PAX4 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose	36.3	8	17003335 (2), 17989064 (2), 12200761 (1), 11825903 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about PAX4

(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 PAX4 gene:

NM_006193.2

Unigene Cluster for PAX4:

Paired box 4

Hs.129706

Unigene Representative Sequence: AF043978

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

ENST00000341640(uc003vmf.2 uc010lld.1) ENST00000378740(uc003vmg.1)

ENST00000483494(uc003vmh.3) ENST00000463946 ENST00000477423 ENST00000338516

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAX4
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate PAX4:
		hsa-miR-125a-3p hsa-miR-376c hsa-miR-556-3p hsa-miR-1207-5p hsa-miR-3918
		SwitchGear 3'UTR luciferase reporter plasmid: PAX4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAX4 (see all 7) OriGene shRNA RFP: PAX4 OriGene siRNA: PAX4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAX4

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PAX4 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PAX4 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PAX4 (NM_006193)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX4

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PAX4 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PAX4
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PAX4
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAX4

Additional cDNA sequence:

AB008913.1 AF043978.1 BC074761.2 BC107149.2 BC107150.1 DQ442656.1

1 DOTS entry:

DT.91748890

5 AceView cDNA sequences:

AB008913 AF043978 BC074761 NM_006193 BV198517

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for PAX4 About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10
SP1:							-												-
SP2:							-												-				-
SP3:

ECgene alternative splicing isoforms for PAX4

(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

PAX4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATCCCCAAA

About this image

PAX4 expression in embryonic tissues and stem cells

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

10/23 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 23)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Pancreas

Dorsal Pancreatic Bud

Beta/Delta Progenitor Cells

Selective marker (cell-identifying gene)

Pancreas

Dorsal Pancreatic Bud

Endocrine Progenitor Cells

Pancreas

Pancreas

Pancreas

Ventral Pancreatic Bud

Beta/Delta Progenitor Cells

Pancreas

Ventral Pancreatic Bud

Endocrine Progenitor Cells

Pancreas

Dorsal Pancreatic Bud

Alpha Progenitor Cells

Pancreas

Dorsal Pancreatic Bud

Pancreatic Polypeptide Progenitor Cells

Pancreas

Pancreas

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

Pancreatic endoderm-like cells (Generation of beta c...)

Endocrine progenitors (Generation of pancre...)

Posterior foregut (Generation of pancre...)

Pancreatic progenitor-like cells (Derivation of beta c...)

beta-like cells (Derivation of beta c...)

See PAX4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PAX4

SOURCE GeneReport for Unigene cluster: Hs.129706

SABiosciences Expression via Pathway-Focused PCR Arrays including PAX4:

Circadian Rhythms in human mouse rat

Embryonic Stem Cells in human mouse rat

Diabetes in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PAX4 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAX4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX4

(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 PAX4 gene from 3/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	pax4⁶	paired box 4	34(a)	1 ↔ 1	4(18634726-18639046)
fruit fly (Drosophila melanogaster)	Insecta	toe⁶ eyg⁶	eyegone	15(a) 14(a)	possible ortholog possible ortholog	3L(12415610-12425768) 3L(12456132-12461121)
worm (Caenorhabditis elegans)	Secernentea	egl-38⁶ eyg-1⁶ (see all 3)	Protein EYG-1 (see all 3)	29(a) 24(a) (see all 3)	possible ortholog 1 ↔ 1 (see all 3)	IV(10107014-10110391) II(9826454-9827867)

ENSEMBL Gene Tree for PAX4 (if available)
TreeFam Gene Tree for PAX4 (if available)

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

Paralogs for PAX4 gene

PAX7² PAX1² PAX3² PAX5² PAX2² PAX8² PAX9² PAX6²

16 SIMAP similar genes for PAX4 using alignment to 6 protein entries: PAX4_HUMAN (see all proteins):

PAX6 PITX2 HOPX PAX9 PAX2 DUX2

PAX1 PAX5 RAX2 NKX2-5 MNX1 HOXA4

PRRX1 POU6F1 PAX7B HOXB1

PAX4 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 7 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs114202595^1,2	C,	pathogenic	126638033(+)	`TGCCCG/ACAGGA`	2	/R /W	mis¹		2	EA NA	4614
rs2233578^1,2	C,F,H,	other	126637997(-)	`GCACAC/TGGCTC`	2	R W	mis¹ ese³		26	NA NS EA CSA WA	7308
rs35155575^1,2	C,F,	other	126638912(+)	`GATCCG/ATGAGA`	2	/R /W	mis¹		5	NA WA	4834
rs2233585^1,2	C,H,	--	126634373(-)	`AGCAAC/TACCCA`	1	--	ut3¹		4	NS EA	414
rs76326274^1,2		--	126634893(+)	`GTAATT/ATTGTG`	1	--	int¹		1	NA	120
rs382443^1,2	C	--	126635966(+)	`AATGGG/ATGGAT`	1	--	int¹		1	WA	2
rs68012321^1,2	C,	--	126635967(+)	`ATGGGTGGA/- TGGAT`	1	--	int¹		1	CSA	2
rs78594665^1,2	C,F,	--	126636896(+)	`CTGGCC/TGGCCC`	1	--	int¹		3	WA CSA	122
rs2233577^1,2	F,H,	--	126638230(-)	`AAGTGG/ATGGTA`	1	--	int¹		5	NS EA WA	538
rs2233576^1,2	H	--	126638634(-)	`CTGCCC/AATCAT`	1	--	int¹		4	NS EA	414

HapMap Linkage Disequilibrium report for PAX4 (127250346 - 127255982 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PAX4: --
Human Gene Mutation Database (HGMD): PAX4

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PAX4

DNA2.0 Custom Variant and Variant Library Synthesis for PAX4

(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.)
About This Section

PAX4 for disorders           About GeneDecksing

OMIM gene information: 167413
OMIM disorders: 612225  125853  612227
UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316

Defects in PAX4 are a cause of susceptibility to noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853];

also known as diabetes mellitus type 2 or maturity-onset diabetes. NIDDM is characterized by an autosomal dominant

mode of inheritance, onset during adulthood and insulin resistance

Genetic variations in PAX4 are associated with susceptibility to insulin-dependent diabetes mellitus (IDDM)

[MIM:222100]. IDDM normally starts in childhood or adolescence and is caused by the body's own immune system which

destroys the insulin-producing beta cells in the pancreas. Classical features are polydipsia, polyphagia and polyuria,

due to hyperglycemia-induced osmotic diuresis

Defects in PAX4 are a cause of susceptibility to diabetes mellitus ketosis-prone (KPD) [MIM:612227]. KPD is an

atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and

ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often

possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a

markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose

control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell

autoimmunity is a rare finding

Defects in PAX4 are the cause of maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225]. MODY is a

form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early

adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at

the beginning of the disease

20/22 diseases for PAX4 (see all 22): About MalaCards

maturity-onset diabetes of the young wolcott-rallison syndrome maturity-onset diabetes of the young, type 9 glucose intolerance

diabetes mellitus pancreatitis type 2 diabetes mellitus type 1 diabetes mellitus

insulin resistance acute lymphoblastic leukemia aniridia lymphoblastic leukemia

insulinoma neuroectodermal tumors hyperglycemia kidney disease

duodenitis twinning leukemia melanoma

2 diseases from the University of Copenhagen DISEASES database for PAX4:

Diabetes mellitus maturity-onset diabetes of the young

8 Novoseek disease relationships for PAX4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
insulinoma	60.3	12	11263967 (5), 17260022 (4), 9480859 (1), 18234907 (1) (see all 5)
diabetes mellitus insulin-dependent	46.5	6	16132946 (1), 17633464 (1), 16132953 (1), 16132962 (1) (see all 6)
niddm	29	5	16423628 (3), 10967107 (1), 17426099 (1)
glucose intolerance	26.3	1	17003335 (1)
hyperglycemia	23.5	1	17989064 (1)
hyperinsulinemia	16.5	1	16988001 (1)
insulin resistance	0	3	12200761 (1), 12386964 (1)
tumors	0	2	18949370 (2)

Genetic Association Database (GAD): PAX4
Human Genome Epidemiology (HuGE) Navigator: PAX4 (15 documents)

Export disorders for PAX4 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 PAX4 gene, integrated from 9 sources (see all 91):
(articles sorted by number of sources associating them with PAX4)

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

Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. (PubMed id 15834548)^{1, 2, 4, 9} Biason-Lauber A....Schoenle E.J. (2005)
PAX4 gene variations predispose to ketosis-prone diabetes. (PubMed id 15509590)^{1, 2, 4, 9} Mauvais-Jarvis F....Vaisse C. (2004)
A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. (PubMed id 11723072)^{1, 2, 4, 9} Shimajiri Y.... Nanjo K. (2001)
Expression of dominant negative form of PAX4 in human insulinoma. (PubMed id 11263967)^{1, 2, 9} Miyamoto T....Hashizume K. (2001)
PAX4 mutations in Thais with maturity onset diabetes of the young. (PubMed id 17426099)^{1, 2, 9} Plengvidhya N.... Banchuin N. (2007)
Lack of association of PAX4 gene with type 1 diabetes in the Finnish and Hungarian populations. (PubMed id 16123375)^{1, 4, 9} Hermann R....Ilonen J. (2005)
PAX4 mutation (R121W) as a prodiabetic variant in Okinawans. (PubMed id 12604352)^{1, 4, 9} Shimajiri Y....Takasu N. (2003)
Molecular cloning of mouse paired-box-containing gene (Pax-4) from an islet beta cell line and deduced sequence of human Pax-4. (PubMed id 9439631)^{1, 2, 9} Matsushita T....Itakura M. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Isolation and characterization of the human PAX4 gene. (PubMed id 9753306)^{1, 2} Tao T.... Permutt M.A. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 5078	HGNC: 8618	AceView: PAX4	Ensembl:ENSG00000106331	euGenes: HUgn5078
ECgene: PAX4	Kegg: 5078	H-InvDB: PAX4

(According to HUGE)
About This Section

(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 PAX4	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PAX4	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for PAX4 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 PAX4 gene:
Search GeneIP for patents involving PAX4

GeneCards and IP:
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