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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PAX4 Gene

protein-coding   GIFtS: 63
GCID: GC07M127250

Paired Box 4

(Previous name: paired box gene 4)
  See 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)
About This Section

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

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 maturity-onset diabetes of the young, type 9, and glucose intolerance, and among its related super-pathways are Regulation of beta-cell development and Axon guidance. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  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 plasmidPAX4 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for PAX4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43316

  • PAX4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PAX4 Protein Expression
    REFSEQ proteins: NP_006184.2  
    ENSEMBL proteins: 
     ENSP00000339906   ENSP00000368014   ENSP00000473846   ENSP00000451923   ENSP00000344297  
    Reactome Protein details: O43316
    Human Recombinant Protein Products for PAX4: 
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    Novus Biologicals PAX4 Protein
    Novus Biologicals PAX4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAX4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--

    PAX4 for ontologies           About GeneDecksing



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


    PAX4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    PAX4 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PAX4 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAX4 
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    miRNA
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    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 plasmidPAX4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX4


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PAX4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Regulation of beta-cell development0.56
    Maturity onset diabetes of the young0.56
    2Axon guidance
    Developmental Biology0.69
    3Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
    Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for PAX4
        Developmental Biology
    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 CentralTM 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
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEUROG3ENSP000002424624STRING: 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 IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007275multicellular organismal development ----
    GO:0007623circadian rhythm IEA--

    PAX4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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  

    Search CenterWatch for drugs/clinical trials and news about PAX4

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
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    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 plasmidPAX4 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAX4

    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 BC074761 AF043978 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)      PAX4 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 28 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Beta-like cells ( Derivation of beta cells including an expansion step )

    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

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PAX4 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax41 , 5 paired box gene 41, 5 82.03(n)1
    79.31(a)1
      6 (11.99 cM)5
    185061  NM_011038.21  NP_035168.11 
     284423345 
    zebrafish
    (Danio rerio)
    Actinopterygii pax46
    paired box 4
    33(a)
    1 ↔ 1
    4(18634726-18639046)
    fruit fly
    (Drosophila melanogaster)
    Insecta toe6
    eyg6
    eyegone
    16(a)
    14(a)
    possible ortholog
    possible ortholog
    3L(12415610-12425768)
    3L(12456132-12461121)
    worm
    (Caenorhabditis elegans)
    Secernentea eyg-16
    Protein EYG-1
    22(a)
    possible ortholog
    II(9826513-9827926)


    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
    PAX12  PAX72  PAX32  PAX52  PAX22  PAX82  PAX62  PAX92  
    14 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

    PAX4 for paralogs           About GeneDecksing



    (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) 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

    10/261 SNPs in PAX4 are shown (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
    VAR_0548804
    ----see VAR_0548802 R W mis40--------
    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

    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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/21 diseases for PAX4 (see all 21):    About MalaCards
    maturity-onset diabetes of the young, type 9    glucose intolerance    type 1 diabetes mellitus    monogenic diabetes
    hyperglycemia    type 1 diabetes    insulinoma    aniridia
    maturity-onset diabetes of the young    insulin resistance    diabetes mellitus    pancreatitis
    duodenitis    acute lymphoblastic leukemia    kidney disease    lymphoblastic leukemia
    obesity    melanoma    leukemia    hepatitis

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

    PAX4 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for PAX4 gene, integrated from 9 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. (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. (2005)
    3. PAX4 gene variations predispose to ketosis-prone diabetes. (PubMed id 15509590)1, 2, 4, 9 Mauvais-Jarvis F....Vaisse C. (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. (2001)
    5. Expression of dominant negative form of PAX4 in human insulinoma. (PubMed id 11263967)1, 2, 9 Miyamoto T....Hashizume K. (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. (2005)
    7. PAX4 mutation (R121W) as a prodiabetic variant in Okinawans. (PubMed id 12604352)1, 4, 9 Shimajiri Y....Takasu N. (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. (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. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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
    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.)
    About This Section
    Patent Information for PAX4 gene:
    Search GeneIP for patents involving PAX4

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



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