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

PAX2 Gene

protein-coding   GIFtS: 66
GCID: GC10P102495

Paired Box 2

(Previous name: paired box gene 2)
Microbiology & Infectious Diseases Congress
  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 21 2
Paired Box Gene 21
PAPRS2
Paired Box Homeotic Gene 22
Paired Box Protein Pax-22

External Ids:    HGNC: 86161   Entrez Gene: 50762   Ensembl: ENSG000000758917   OMIM: 1674095   UniProtKB: Q029623   

Export aliases for PAX2 gene to outside databases

Previous GC identifers: GC10P101398 GC10P101739 GC10P102636 GC10P102170 GC10P102169 GC10P096133


(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 PAX2 Gene:
PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central
feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed
to be a target of transcriptional supression by the tumor supressor gene WT1. Mutations within PAX2 have been
shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in
multiple transcript variants. (provided by RefSeq, Jul 2008)

GeneCards Summary for PAX2 Gene: 
PAX2 (paired box 2) is a protein-coding gene. Diseases associated with PAX2 include renal coloboma syndrome, and renal hypoplasia, and among its related super-pathways are Wnt signaling pathway. GO annotations related to this gene include C2H2 zinc finger domain binding and transcription regulatory region DNA binding. An important paralog of this gene is PAX1.

UniProtKB/Swiss-Prot: PAX2_HUMAN, Q02962
Function: Probable transcription factor that may have a role in kidney cell differentiation. Has a critical role
in the development of the urogenital tract, the eyes, and the CNS

Gene Wiki entry for PAX2 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_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PAX2 gene promoter:
         AP-1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PAX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PAX2


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

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.31   HGNC cytogenetic band: 10q24.31

PAX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P102495:  view genomic region     (about GC identifiers)

Start:
102,495,360 bp from pter      End:
102,589,698 bp from pter
Size:
94,339 bases      Orientation:
plus strand

(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: PAX2_HUMAN, Q02962 (See protein sequence)
Recommended Name: Paired box protein Pax-2  
Size: 417 amino acids; 44706 Da
Subunit: Interacts with ELGN3; the interaction targets PAX2 for destruction
Subcellular location: Nucleus
Developmental stage: Mainly in fetal kidney and juvenile nephrogenic rests
Secondary accessions: Q15105 Q15110 Q15837 Q5SZP2 Q5SZP3
Alternative splicing: 4 isoforms:  Q02962-1   Q02962-2   Q02962-3   Q02962-4   

Explore the universe of human proteins at neXtProt for PAX2: NX_Q02962

Explore proteomics data for PAX2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02962

  • PAX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PAX2 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000269.2  NP_003978.2  NP_003979.2  NP_003980.2  NP_003981.2  

    ENSEMBL proteins: 
     ENSP00000355069   ENSP00000347385   ENSP00000452429   ENSP00000452527   ENSP00000398652  
     ENSP00000452489   ENSP00000396259   ENSP00000359319  

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    Cloud-Clone Corp. Proteins for PAX2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19048125
    GO:0005764lysosome IEA--
    GO:0005815microtubule organizing center IDA18000879
    GO:0032993protein-DNA complex ISS--
    GO:0034451centriolar satellite IDA18000879

    PAX2 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

    4 InterPro protein domains:
     IPR001523 Paired_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR022130 Pax2_C
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q02962

    ProtoNet protein and cluster: Q02962

    1 Blocks protein domain: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX2_HUMAN, Q02962
    Similarity: Contains 1 paired domain


    PAX2 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: PAX2_HUMAN, Q02962
    Function: Probable transcription factor that may have a role in kidney cell differentiation. Has a critical role
    in the development of the urogenital tract, the eyes, and the CNS

         Genatlas biochemistry entry for PAX2:
    paired box (DNA binding) containing protein 2,with a truncated homeo domain and an alternatively spliced form
    PAX2D,leading to a shift in the reading frame and an extended conserved coding region at the C terminus,expressed
    in fetal kidney,throughout the branching ureteric bud Wolffian and Mullerian ducts,eye,CNS,ear,repressed by WT1
    in podocyte during early stages of nephrogenesis,playing an essential role for the branching ureteric the
    development of renal epithelium,dysregulated and leading to diseases in cases of haploinsufficiency(see ONCRV) or
    persistent expression (see DDS)

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000987core promoter proximal region sequence-specific DNA binding IDA19118900
    GO:0003677DNA binding ISS--
    GO:0005515protein binding IPI--
    GO:0016175superoxide-generating NADPH oxidase activity ISS--
    GO:0044212transcription regulatory region DNA binding IDA16368682
         
    PAX2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PAX2:
     Decreased Salmonella enterica   Increased gamma-H2AX phosphory 

         11 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Pax2):
     cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland  hearing/vestibular/ear 
     mortality/aging  nervous system  pigmentation  renal/urinary system  reproductive system 
     vision/eye 

    PAX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PAX2: Pax2tm1Pgr Pax2tm1Cjt

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PAX2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAX2 
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    Inhib. RNA
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    (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 PAX2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway
    Wnt Signaling Pathway NetPath0.37
    2Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    3TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling
    4Id Signaling Pathway
    Id Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PAX2
        Transcription factors in neurogenesis


    1 Cell Signaling Technology (CST) Pathway for PAX2
        TGF-beta/Smad Signaling

    2 BioSystems Pathways for PAX2
        Wnt Signaling Pathway NetPath
    Id Signaling Pathway



    PAX2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/13 Interacting proteins for PAX2 (Q029623 ENSP000003550694) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK8IP1Q9UQF23, ENSP000002410144I2D: score=2 STRING: ENSP00000241014
    WT1P195443, ENSP000003313274I2D: score=2 STRING: ENSP00000331327
    BBS2Q9BXC93, ENSP000002451574I2D: score=1 STRING: ENSP00000245157
    PAXIP1Q6ZW493, ENSP000003840484I2D: score=2 STRING: ENSP00000384048
    ID2Q023633, ENSP000002340914I2D: score=1 STRING: ENSP00000234091
    About this table

    Gene Ontology (GO): 5/84 biological process terms (GO ID links to tree view) (see all 84):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001655urogenital system development ISS--
    GO:0001656metanephros development ----
    GO:0001657ureteric bud development ----
    GO:0001658branching involved in ureteric bud morphogenesis ISS--

    PAX2 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

    PAX2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PAX2

    4 Novoseek inferred chemical compound relationships for PAX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 14.8 4 11700324 (2), 20221250 (1)
    glyceraldehyde 3-phosphate 5.48 2 16885413 (1), 11262416 (1)
    tyrosine 0 1 11700324 (1)
    serine 0 3 11700324 (2)

    Search CenterWatch for drugs/clinical trials and news about PAX2

    (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 PAX2 gene (5 alternative transcripts): 
    NM_000278.3  NM_003987.3  NM_003988.3  NM_003989.3  NM_003990.3  

    Unigene Cluster for PAX2:

    Paired box 2
    Hs.155644  [show with all ESTs]
    Unigene Representative Sequence: NM_003988
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553492 ENST00000361791 ENST00000355243(uc001krn.4 uc001kro.4 uc010qps.2)
    ENST00000554363 ENST00000556085 ENST00000427256 ENST00000483202 ENST00000554172(uc001krp.1)
    ENST00000428433(uc001krk.4 uc001krm.4) ENST00000370296(uc001krl.4)

    Congresses - knowledge worth sharing:  
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    hsa-miR-2052 hsa-miR-19b-2* hsa-miR-15a hsa-miR-139-5p hsa-miR-219-5p hsa-miR-218 hsa-miR-507 hsa-miR-508-3p
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    Additional mRNA sequence: 

    AY153483.1 AY153484.1 L25597.1 M89470.1 

    8 DOTS entries:

    DT.95367772  DT.100748589  DT.86838952  DT.92418076  DT.95367771  DT.92418075  DT.121217784  DT.40211164 

    24/46 AceView cDNA sequences (see all 46):

    AI300766 NM_003990 NM_003987 NM_003989 NM_000278 BP873303 BF195953 NM_003988 
    BX283390 AW771797 AA780986 BF592009 AW614371 AI762336 AI917268 AY153484 
    BP871564 AY153483 BM671839 BM672641 AI927917 BF056071 AI770177 AI765627 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PAX2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                                                                                
    SP2:                                                                                -               
    SP3:                                                  -                                             
    SP4:              -     -     -     -                                                               
    SP5:                                                                                                


    ECgene alternative splicing isoforms for PAX2

    (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

    PAX2 expression in normal human tissues (normalized intensities)      PAX2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCCTCACC
    PAX2 Expression
    About this image


    PAX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Kidney (Urinary System)    fully expand to see all 23 entries
             Presumptive Podocytes Podocyte Layer
             Metanephric Mesenchyme
             mK3
             Podocalyxin+, CD24+, GCTM2- ( Derivation and sorting of renal cells from human embryonic...
             visceral organ/metanephros/renal medulla   
     
     Neural Tube (Nervous System)    fully expand to see all 16 entries
             dI6 Interneurons dP6 Neural Domain
             Telencephalon
     
     Neural Ectoderm (Nervous System)    fully expand to see all 7 entries
             Isthmus Cells Neural Plate
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Epithalamus
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             brain/hindbrain   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
             Optic Cup
             sensory organ/eye/retina   

    See PAX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAX2

    SOURCE GeneReport for Unigene cluster: Hs.155644

    UniProtKB/Swiss-Prot: PAX2_HUMAN, Q02962
    Tissue specificity: Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system

        SABiosciences Expression via Pathway-Focused PCR Arrays including PAX2: 
              Neurogenesis in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Osmotic Stress in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX2

    (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 PAX2 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax21 , 5 paired box gene 21, 5 94.91(n)1
    99.24(a)1
      19 (38.09 cM)5
    185041  NM_011037.41  NP_035167.41 
     447560495 
    chicken
    (Gallus gallus)
    Aves PAX21 paired box 2 86.01(n)
    96.18(a)
      395574  NM_204793.1  NP_990124.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAX26
    --
    Uncharacterized protein
    94(a)
    100(a)
    1 ↔ 1
    possible ortholog
    GL343196.1(580-77779)
    GL343388.1(918083-926352)
    African clawed frog
    (Xenopus laevis)
    Amphibia pax2-A2 paired box protein 79.28(n)    Y10121.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pax2a2 paired box gene 2a 81.29(n)   30425  NM_131184.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sv1 , 3 cone cell fate commitment (sensu
    Drosophila) transcription more3
    shaven1
    86(a)
    (best of 3)3
    48.7(n)1
    49.44(a)1
      102D43
    438251  NM_001169363.11  NP_001162834.11 
    worm
    (Caenorhabditis elegans)
    Secernentea egl-383 Human paired box protein like 75(a)
    (best of 3)
      IV(10106948-10109578)   --


    ENSEMBL Gene Tree for PAX2 (if available)
    TreeFam Gene Tree for PAX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PAX2 gene
    PAX12  PAX72  PAX32  PAX52  PAX82  PAX62  PAX92  PAX42  
    9 SIMAP similar genes for PAX2 using alignment to 8 protein entries:     PAX2_HUMAN (see all proteins):
    PAX6    PAX8    PAX5    PAX9    Pax9    PAX4
    PAX1    PAX3    PAX7

    PAX2 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

    10/1668 SNPs in PAX2 are shown (see all 1668)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0680864
    Renal-coloboma syndrome (RCS)4--see VAR_0680862 R T mis40--------
    VAR_0680904
    Renal-coloboma syndrome (RCS)4--see VAR_0680902 R P mis40--------
    VAR_0680894
    Renal-coloboma syndrome (RCS)4--see VAR_0680892 G S mis40--------
    VAR_0680804
    Renal-coloboma syndrome (RCS)4--see VAR_0680802 G V mis40--------
    VAR_0680814
    Renal-coloboma syndrome (RCS)4--see VAR_0680812 L R mis40--------
    VAR_0680914
    Renal-coloboma syndrome (RCS)4--see VAR_0680912 P H mis40--------
    VAR_0037894
    Renal-coloboma syndrome (RCS)4--see VAR_0037892 G S mis40--------
    VAR_0680924
    Renal-coloboma syndrome (RCS)4--see VAR_0680922 P S mis40--------
    VAR_0680834
    Renal-coloboma syndrome (RCS)4--see VAR_0680832 S N mis40--------
    VAR_0680824
    Renal-coloboma syndrome (RCS)4--see VAR_0680822 S I mis40--------

    HapMap Linkage Disequilibrium report for PAX2 (102495360 - 102589698 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PAX2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669276CNV Deletion23128226
    esv2740140CNV Deletion23290073
    esv2740128CNV Deletion23290073
    nsv7524CNV Insertion18451855
    dgv812n71CNV Loss21882294
    nsv831964CNV Loss17160897
    nsv825545CNV Gain20364138
    essv14536CNV CNV17122850


    Human Gene Mutation Database (HGMD): PAX2

    Locus Specific Mutation Databases (LSDB): PAX2
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing PAX2:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing PAX2
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX2

    (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: 167409   
    OMIM disorders: 120330  
    UniProtKB/Swiss-Prot: PAX2_HUMAN, Q02962
  • Renal-coloboma syndrome (RCS) [MIM:120330]: An autosomal dominant disorder characterized by both ocular
    and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous
    system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes
    excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk,
    designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal
    diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular
    dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal
    number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in
    decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency
    that frequently progresses to end-stage renal disease. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Note=Defects in PAX2 can be responsible for isolated renal hypodysplasia and oligomeganephronia (OMN).
    This is a rare congenital and usually sporadic anomaly characterized by bilateral renal hypoplasia, with a
    reduced number of enlarged nephrons and without urinary tract abnormalities

  • 20/54 diseases for PAX2 (see all 54):    About MalaCards
    renal coloboma syndrome    renal hypoplasia    scleral staphyloma    bilateral renal hypoplasia
    coloboma    denys-drash syndrome    nephrogenic adenoma    acro-renal-ocular syndrome
    nail-patella syndrome    diffuse mesangial sclerosis    charge syndrome    vesicoureteral reflux
    renal agenesis    anophthalmia/microphthalmia    focal segmental glomerulosclerosis    developmental disabilities
    autosomal dominant disease    endocervicitis    microphthalmia    aniridia

    8 diseases from the University of Copenhagen DISEASES database for PAX2:
    Coloboma     Lymphoma     Nephrogenic adenoma     Nephroblastoma
    Vesicoureteral reflux     Renal cell carcinoma     Leukemia     Kidney disease

    PAX2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/47 Novoseek inferred disease relationships for PAX2 gene (see all 47)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    renal-coloboma syndrome 98.5 50 10466411 (4), 14566649 (4), 9106533 (4), 9783702 (3) (see all 29)
    coloboma 89.4 22 7795640 (2), 16049068 (2), 12503095 (2), 17269592 (1) (see all 16)
    wilms tumor 75.8 26 1378753 (6), 1311084 (3), 7856737 (1), 8760285 (1) (see all 17)
    renal anomaly 75.1 6 7795640 (1), 10466411 (1), 12410411 (1), 12503095 (1) (see all 6)
    hypoplasia 70.9 20 11461952 (4), 17513325 (3), 16273412 (2), 14569086 (1) (see all 12)
    hearing loss high-frequency 66.6 2 10466411 (1), 14566649 (1)
    vesicoureteral reflux 64.9 6 7795640 (2), 10533062 (1), 10466411 (1), 14566649 (1) (see all 5)
    multicystic dysplastic kidney 64.3 4 16049068 (2), 11390716 (1), 9874314 (1)
    kidney tumor 61.7 2 17210525 (2)
    mesangial sclerosis, diffuse 61 4 9916932 (2), 12488983 (1)

    GeneTests: PAX2
    GeneReviews: PAX2
    Genetic Association Database (GAD): PAX2
    Human Genome Epidemiology (HuGE) Navigator: PAX2 (6 documents)

    Export disorders for PAX2 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 PAX2 gene, integrated from 9 sources (see all 239):
    (articles sorted by number of sources associating them with PAX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. (PubMed id 7981748)1, 2, 3 Stapleton P.... Busslinger M. (1993)
    2. Expression of the PAX2 gene in human fetal kidney and Wilms' tumor. (PubMed id 1378753)1, 2, 9 Eccles M.R....Reeve A.E. (1992)
    3. PAX2 mutations in oligomeganephronia. (PubMed id 11168927)1, 2, 9 Salomon R.... Broyer M. (2001)
    4. Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). (PubMed id 9760197)1, 2, 9 Devriendt K.... Leys A. (1998)
    5. Genomic structure of the human PAX2 gene. (PubMed id 8661132)1, 2, 9 Sanyanusin P....Eccles M.R. (1996)
    6. A common variant of the PAX2 gene is associated with reduced newborn kidney size. (PubMed id 17513325)1, 4, 9 Quinlan J....Goodyer P. (2007)
    7. Role of PAX2 gene polymorphisms in Henoch-Schonlein purpura nephritis. (PubMed id 16509931)1, 4, 9 Yi Z.W....Mo S.H. (2006)
    8. Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. (PubMed id 15652857)1, 2, 9 Higashide T....Sugiyama K. (2005)
    9. Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. (PubMed id 19959718)1, 4, 9 Cordell H.J....Goodship J.A. (2010)
    10. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. (PubMed id 22213154)1, 2 Bower M.... Heidet L. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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: 5076 HGNC: 8616 AceView: PAX2 Ensembl:ENSG00000075891 euGenes: HUgn5076
    ECgene: PAX2 H-InvDB: PAX2

    (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 PAX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAX2 Genetics and Cytogenetics in Oncology and Haematology
    PAX2 mutation dbhttp://www.hgu.mrc.ac.uk/Softdata/PAX2/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAX2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PAX2 gene:
    Search GeneIP for patents involving PAX2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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