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PAX2 Gene

protein-coding   GIFtS: 67
GCID: GC10P102495

Paired Box 2

(Previous name: paired box gene 2)
  See PAX2-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Paired Box 21 2
PAPRS2 5
Paired Box Gene 21
Paired Box Homeotic Gene 22
Paired Box Protein Pax-22

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

Export aliases for PAX2 gene to outside databases

Previous GC identifers: GC10P101398 GC10P101739 GC10P102636 GC10P102170 GC10P102169 GC10P096133


(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 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 hypoplasia, and multicystic dysplastic kidney. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   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 Chromatin IP Primers for PAX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PAX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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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    Novus Biologicals PAX2 Proteins
    Novus Biologicals PAX2 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for PAX2

     
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    antibodies-online proteins for PAX2 (14 products) 

     
    antibodies-online peptides for PAX2

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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

    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


    Find genes that share domains with PAX2           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: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with PAX2           About GenesLikeMe


    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 

    Find genes that share phenotypes with PAX2           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for PAX2

    miRNA
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    miRTarBase miRNAs that target PAX2:
    hsa-mir-423-5p (MIRT038163)

    Block miRNA regulation of human, mouse, rat PAX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAX2 (see all 42):
    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
    SwitchGear 3'UTR luciferase reporter plasmidPAX2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PAX2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 5): PAX2 (NM_003990)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX2

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    PureStem ES-209, Meso-prx/latp Progenitor
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX2


    (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
    PAX2_HUMAN, Q02962: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    lysosome2
    vacuole2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (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

    Find genes that share ontologies with PAX2           About GenesLikeMe


    (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 PAX2 About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    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


    Find genes that share SuperPaths with PAX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

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


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX2: 
              Neurogenesis in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PAX2 (Q029623 ENSP000003550694) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK8IP1Q9UQF23, ENSP000002410144I2D: score=2 STRING: ENSP00000241014
    WT1P195443, ENSP000003313274I2D: score=2 STRING: ENSP00000331327
    BBS2Q9BXC93, ENSP000002451574I2D: score=1 STRING: ENSP00000245157
    ID2Q023633, ENSP000002340914I2D: score=1 STRING: ENSP00000234091
    MAPK8P459833, ENSP000003534834I2D: score=2 STRING: ENSP00000353483
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 85):    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--

    Find genes that share ontologies with PAX2           About GenesLikeMe



    (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 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)



    Find genes that share compounds with PAX2           About GenesLikeMe



    (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 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)

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    Selected qRT-PCR Assays for microRNAs that regulate PAX2 (see all 42):
    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 

    Selected AceView cDNA sequences (see all 46):

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

    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™, 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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    PAX2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 16) fully expand
     
     Kidney (Urinary System)    fully expand to see all 24 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephric Mesenchyme
             mK4
             Podocalyxin+, CD24+, GCTM2-
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 7 entries
             Intermediate Mesoderm Cells Intermediate Mesoderm
             Mesonephros
             Intermediate mesoderm cells
     
     Neural Tube (Nervous System)    fully expand to see all 12 entries
             Neural Fold Cells Mesencephalon
             Telencephalon
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
             Optic Cup
             Mature retinal pigmented epithelium cells
     
     Neural Ectoderm (Nervous System)    fully expand to see all 6 entries
             Neural Fold Cells Mesencephalon
    PAX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAX2 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PAX2: 
              Neurogenesis in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Osmotic Stress in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PAX2
    OriGene qSTAR qPCR primer pairs in human, mouse for PAX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX2
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    QuantiFast Probe-based Assays in human, mouse, rat PAX2
    In Situ
    Assay Products:
     

     
    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

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    This gene was present in the common ancestor of animals.

    Orthologs for PAX2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax21 , 5 paired box gene 25
    paired box 21
    94.57(n)1
    98.73(a)1
      19 (38.09 cM)5
    185041  NM_011037.41  NP_035167.41 
     447560495 
    chicken
    (Gallus gallus)
    Aves PAX21 paired box 2 85.67(n)
    95.42(a)
      395574  NM_204793.1  NP_990124.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    94(a)
    100(a)
    many → 1
    many → 1
    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 sv3 cone cell fate commitment (sensu
    Drosophila) transcription more
    86(a)
    (best of 3)
      102D4   --
    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)
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    Paralogs for PAX2 gene
    PAX12  PAX72  PAX32  PAX52  PAX82  PAX62  PAX92  PAX42  
    9 SIMAP similar genes for PAX2 using alignment to 7 protein entries:     PAX2_HUMAN (see all proteins):
    PAX6    PAX8    PAX5    PAX9    Pax9    PAX4
    PAX1    PAX3    PAX7

    Find genes that share paralogs with PAX2           About GenesLikeMe



    (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 PAX2 (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

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 167409   
    OMIM disorders: 120330  191830  
    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

  • 17 diseases for PAX2:    
    About MalaCards
    renal hypoplasia    multicystic dysplastic kidney    bilateral renal hypoplasia    renal hypoplasia, isolated
    renal coloboma syndrome    denys-drash syndrome    acro-renal-ocular syndrome    bothnia retinal dystrophy
    adenocarcinoma in situ    nail-patella syndrome    diffuse mesangial sclerosis    coloboma
    nephrogenic adenoma    charge syndrome    vesicoureteral reflux    renal agenesis
    anophthalmia/microphthalmia

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

    Find genes that share disorders with PAX2           About GenesLikeMe

    Selected 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)
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    PubMed articles for PAX2 gene, integrated from 10 sources (see all 247):
    (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. (Nat. Genet. 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. (Cell Growth Differ. 1992)
    3. PAX2 mutations in oligomeganephronia. (PubMed id 11168927)1, 2, 9 Salomon R.... Broyer M. (Kidney Int. 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. (Hum. Genet. 1998)
    5. Genomic structure of the human PAX2 gene. (PubMed id 8661132)1, 2, 9 Sanyanusin P....Eccles M.R. (Genomics 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. (J. Am. Soc. Nephrol. 2007)
    7. Role of PAX2 gene polymorphisms in Henoch-Schonlein purpura nephritis. (PubMed id 16509931)1, 4, 9 Yi Z.W....Mo S.H. (Nephrology (Carlton) 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. (Am. J. Ophthalmol. 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. (J. Am. Soc. Nephrol. 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. (Hum. Mutat. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5076 HGNC: 8616 AceView: PAX2 Ensembl:ENSG00000075891 euGenes: HUgn5076
    ECgene: PAX2 H-InvDB: PAX2

    (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 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/books/NBK1116/?term=PAX2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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