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PAX4 Gene

protein-coding   GIFtS: 61
GCID: GC07M127250

Paired Box 4

(Previous name: paired box gene 4)
  See PAX4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Paired Box 41 2
Paired Box Gene 41 2
KPD2 5
MODY92 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PAX4 Gene:
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)

GeneCards Summary for PAX4 Gene:
PAX4 (paired box 4) is a protein-coding gene. Diseases associated with PAX4 include diabetic ketoacidosis, and maturity-onset diabetes of the young, type 9. GO annotations related to this gene include double-stranded DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PAX1.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 plasmidPAX4 promoter sequence
   Search Chromatin IP Primers for PAX4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316 (See protein sequence)
Recommended Name: Paired box protein Pax-4  
Size: 350 amino acids; 37833 Da
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

Explore proteomics data for PAX4 at MOPED


See PAX4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006184.2  
ENSEMBL proteins: 
 ENSP00000339906   ENSP00000368014   ENSP00000473846   ENSP00000451923   ENSP00000344297  
Reactome Protein details: O43316

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antibodies-online proteins for PAX4 (6 products) 

 
antibodies-online peptides for PAX4

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
PAX: Paired boxes
PRD: Homeoboxes / PRD class

5 InterPro protein domains:
 IPR001523 Paired_dom
 IPR011991 WHTH_DNA-bd_dom
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O43316

ProtoNet protein and cluster: O43316

1 Blocks protein domain: 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


Find genes that share domains with PAX4           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding TAS9480859
GO:0003690double-stranded DNA binding IEA--
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding IEA--
     
Find genes that share ontologies with PAX4           About GenesLikeMe


Phenotypes:
     4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pax4):
 endocrine/exocrine gland  growth/size/body  mortality/aging  normal 

Find genes that share phenotypes with PAX4           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for PAX4

miRNA
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5 qRT-PCR Assays for microRNAs that regulate PAX4:
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SwitchGear 3'UTR luciferase reporter plasmidPAX4 3' UTR sequence
Inhib. RNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
PAX4_HUMAN, O43316: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol3
extracellular1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus ----
GO:0005654nucleoplasm TAS--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for PAX4 About    
See pathways by source

SuperPathContained pathways About
1Regulation of beta-cell development
Regulation of beta-cell development0.64
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells0.00
Maturity onset diabetes of the young0.61
2L1CAM interactions
Developmental Biology0.63


Find genes that share SuperPaths with PAX4           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Reactome Pathway for PAX4
    Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells


1 Kegg Pathway  (Kegg details for PAX4):
    Maturity onset diabetes of the young

    Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX4: 
          Circadian Rhythms in human mouse rat
          Embryonic Stem Cells in human mouse rat
          Diabetes in human mouse rat

Interactions:

    GeneGlobe Interaction Network for PAX4

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for PAX4 (ENSP000003399064) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
NEUROG3ENSP000002424624STRING: ENSP00000242462
TCF7ENSP000003403474STRING: ENSP00000340347
TCF7L2ENSP000003584044STRING: ENSP00000358404
About this table

Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated ----
GO:0007275multicellular organismal development ----
GO:0007623circadian rhythm IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for PAX4

1 Novoseek inferred 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)

1 PharmGKB related drug/compound annotation for PAX4 gene    About this table
Drug/compound PharmGKB Annotation
repaglinideCA  



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
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5 qRT-PCR 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 plasmidPAX4 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat PAX4
Clone
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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
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OriGene qPCR primer pairs and template standards for PAX4
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  QuantiFast Probe-based Assays in human, mouse, rat PAX4
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Additional mRNA sequence: 

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

1 DOTS entry:

DT.91748890 

5 AceView cDNA sequences:

AB008913 NM_006193 AF043978 BC074761 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PAX4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CATCCCCAAA
PAX4 Expression
About this image


PAX4 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 8) fully expand
 
 Pancreas (Endocrine System)    fully expand to see all 29 entries
         Endocrine Progenitor Cells Ventral Pancreatic Bud
         Beta-like cells
         pancreas ; exocrine glandular cells   
 
 Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
         Pre-Pancreatic Foregut Endoderm Cells Prepancreatic Ventral Foregut Endoderm
 
 Brain (Nervous System)    fully expand to see all 4 entries
         Lateral Ventricle
 
 Ovary (Reproductive System)    fully expand to see all 2 entries
         Ovarian Mesenchymal Stroma Cells Ovary Interstitium
         Oviduct
 
 Trophoblast (Extraembryonic Tissues)
         Trophoblast Cells Trophoblast
PAX4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PAX4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.129706
    Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX4: 
          Circadian Rhythms in human mouse rat
          Embryonic Stem Cells in human mouse rat
          Diabetes in human mouse rat

Primer
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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)
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This gene was present in the common ancestor of animals.

Orthologs for PAX4 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pax41 , 5 paired box gene 45
paired box 41
84.91(n)1
83.78(a)1
  6 (11.99 cM)5
185061  NM_011038.21  NP_035168.11 
 284423345 
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1017332041 paired box protein Pax-6-like 61.95(n)
61.8(a)
  101733204  XM_004913193.1  XP_004913250.1 
zebrafish
(Danio rerio)
Actinopterygii pax46
paired box 4
36(a)
1 ↔ 1
4(18634726-18639046) ENSDARG00000021336
fruit fly
(Drosophila melanogaster)
Insecta toy6
ey6
(see all 4)
eyeless
(see all 4)
26(a)
17(a)
(see all 4)
many ↔ many
many ↔ many
(see all 4)
4(1010351-1028548)
4(718315-741787)
worm
(Caenorhabditis elegans)
Secernentea vab-36
Protein VAB-3, isoform a
31(a)
1 → many
X(10505988-10519563) WBGene00006870


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)
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Paralogs for PAX4 gene
PAX12  PAX72  PAX32  PAX52  PAX22  PAX82  PAX62  PAX92  
13 SIMAP similar genes for PAX4 using alignment to 6 protein entries:     PAX4_HUMAN (see all proteins):
PAX6    PITX2    HOPX    PAX9    PAX2    DUX2
PAX1    RAX2    PAX5    NKX2-5    MNX1    HOXA4
POU6F1

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PAX4 (see all 261)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0548834
Maturity-onset diabetes of the young 9 (MODY9)4--see VAR_0548832 R W mis40--------
rs1142025951,2,,4
Cpathogenic1130598679(+) TGCCCG/ACAGGA 2 /R /W mis12Minor allele frequency- A:0.00EA NA 4614
rs22335781,2,,4
C,F,Hother1130598643(-) GCACAC/TGGCTC 2 R W mis1 ese326Minor allele frequency- T:0.04NA NS EA CSA WA 7308
rs351555751,2
C,Fother1130599558(+) GATCCG/ATGAGA 2 /R /W mis15Minor allele frequency- A:0.00NA WA 4834
rs102611851,2
C,F--121611519(+) GTGTGT/CGCGCG 1 -- ut312Minor allele frequency- C:0.14WA EA 238
rs2007570521,2
C--126634081(+) TGCAC-/ACAT  
        
GCATA
1 -- ut310--------
rs3275201,2
C--126634082(+) TGCACA/GCATAC 1 -- ut31 ese33Minor allele frequency- G:0.29MN NA 188
rs1398775191,2
C--126635963(+) ATGAA-/TGGG  
        
TGGAT
1 -- int10--------
rs680123211,2
C--126635967(+) ATGGGTGGA/-  
        
TGGAT
1 -- int11Minor allele frequency- -:0.50CSA 2
rs343933431,2
C--126637161(+) CACAC-/GCTGCA 1 -- int10--------

HapMap Linkage Disequilibrium report for PAX4 (127250346 - 127255982 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for PAX4:    About this table    
Variant IDTypeSubtypePubMed ID
nsv831122CNV Gain17160897

Human Gene Mutation Database (HGMD): PAX4
Site Specific Mutation Identification with PCR Assays
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(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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OMIM gene information: 167413   
OMIM disorders: 612225  125853  612227  
UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose
    homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese
    body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance,
    hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes,
    kidneys, nerves, and blood vessels. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry
  • Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose
    homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical
    features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and
    secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and
    blood vessels. Note=Disease susceptibility is associated with variations affecting the gene represented in this
    entry
  • Diabetes mellitus, ketosis-prone (KPD) [MIM:612227]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • Maturity-onset diabetes of the young 9 (MODY9) [MIM:612225]: 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for PAX4:    
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    diabetic ketoacidosis    maturity-onset diabetes of the young, type 9    glucose intolerance    type 2 diabetes mellitus
    pancreatic endocrine tumors    maturity-onset diabetes of the young, type 1    monogenic diabetes    type 1 diabetes mellitus
    insulinoma

    2 diseases from the University of Copenhagen DISEASES database for PAX4:
    Diabetes mellitus     maturity-onset diabetes of the young

    Find genes that share disorders with PAX4           About GenesLikeMe

    8 Novoseek inferred 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)
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    PubMed articles for PAX4 gene, integrated from 10 sources (see all 93):
    (articles sorted by number of sources associating them with PAX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PAX4 mutations in Thais with maturity onset diabetes of the young. (PubMed id 17426099)1, 2, 4, 9 Plengvidhya N.... Banchuin N. (J. Clin. Endocrinol. Metab. 2007)
    2. 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. (Diabetologia 2005)
    3. PAX4 gene variations predispose to ketosis-prone diabetes. (PubMed id 15509590)1, 2, 4, 9 Mauvais-Jarvis F.... Vaisse C. (Hum. Mol. Genet. 2004)
    4. 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. (Diabetes 2001)
    5. Expression of dominant negative form of PAX4 in human insulinoma. (PubMed id 11263967)1, 2, 9 Miyamoto T....Hashizume K. (Biochem. Biophys. Res. Commun. 2001)
    6. 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. (Diabetes 2005)
    7. PAX4 mutation (R121W) as a prodiabetic variant in Okinawans. (PubMed id 12604352)1, 4, 9 Shimajiri Y....Takasu N. (Biochem. Biophys. Res. Commun. 2003)
    8. The association of the PAX4 gene with type 1 diabetes in Han Chinese. (PubMed id 18617287)1, 4, 9 Zhang Y....Wang H. (Diabetes Res. Clin. Pract. 2008)
    9. The Arg121Trp variant in PAX4 gene is associated with beta-cell dysfunction in Japanese subjects with type 2 diabetes mellitus. (PubMed id 16423628)1, 4, 9 Tokuyama Y....Kanatsuka A. (Metab. Clin. Exp. 2006)
    10. A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. (PubMed id 19228875)1, 4, 9 Haaland W.C....Metzker M.L. (Diabetes Care 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5078 HGNC: 8618 AceView: PAX4 Ensembl:ENSG00000106331 euGenes: HUgn5078
    ECgene: PAX4 Kegg: 5078 H-InvDB: PAX4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PAX4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX4 Genetics and Cytogenetics in Oncology and Haematology

    (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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