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PAX6 Gene

protein-coding   GIFtS: 68

GC11M031501
paired box 6
(Previous names: paired box gene 6 (aniridia, keratitis) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AN2)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
paired box 61 2     OTTHUMP000000388372
AN22 3 5     OTTHUMP000000388342
WAGR1 2     paired box protein Pax-62
D11S812E1 2     oculorhombin2
AN1 2     MGC172092
Aniridia type II protein2 3     OTTHUMP000000388402
MGDA2 5     paired box homeotic gene-62
paired box gene 6 (aniridia, keratitis)1     OTTHUMP000000388362
OTTHUMP000000388392     Oculorhombin3
OTTHUMP000000388382     

External Ids:    HGNC: 86201   Entrez Gene: 50802   Ensembl: ENSG000000073727   UniProtKB: P263673   

Export aliases for PAX6 gene to outside databases

Previous GC identifers: GC11M033407 GC11M032586 GC11M031849 GC11M031775 GC11M031768


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

Entrez Gene summary for PAX6:
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to
the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box
domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed
in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders
such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding either the same or different
isoform have been found for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367
Function: Transcription factor with important functions in the development of the eye, nose, central nervous system and
pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in
binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the
ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function
as a molecular switch that specifies target genes

Gene Wiki entry for PAX6

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PAX6 gene promoter:
         Sox9   PPAR-gamma2   PPAR-gamma1   AREB6   Chx10   ATF   POU2F1   deltaCREB   CREB   Cdc5   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PAX6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PAX6 


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

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p13   HGNC cytogenetic band: 11p13

PAX6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX6 gene location

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M031501:  view genomic region     (about GC identifiers)

Start:
31,501,758 bp from pter
End:
31,535,259 bp from pter
Size:
33,502 bases
Orientation:
minus strand

1 alternative location:
Chr11- 31,806,340-31,839,509     
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367 (See protein sequence)
Recommended Name: Paired box protein Pax-6  
Size: 422 amino acids; 46683 Da
Subunit: Interacts with MAF and MAFB (By similarity). Interacts with TRIM11; this interaction leads to ubiquitination
and proteasomal degradation, as well as inhibition of transactivation, possibly in part by preventing PAX6 binding to
consensus DNA sequences (By similarity)
Subcellular location: Nucleus
Developmental stage: Expressed in the developing eye and brain
PDB structure from and Proteopedia :
2CUE (3D)    6PAX (3D)    
Secondary accessions: Q6N006 Q99413
Alternative splicing: 3 isoforms:  P26367-1   P26367-2   P26367-3   

Explore the universe of human proteins at neXtProt for PAX6: NX_P26367 

Post-translational modifications:

  • Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation (By similarity)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_000271.1  NP_001121084.1  NP_001595.2  


    ENSEMBL proteins: 
    ENSP00000405776 ENSP00000368410 ENSP00000368418 ENSP00000368403 ENSP00000368406 ENSP00000368427 
    ENSP00000368424 ENSP00000368401 ENSP00000397384 ENSP00000388132 ENSP00000404356 ENSP00000404100 
    ENSP00000407893 ENSP00000319499 ENSP00000241001 


    Human Recombinant Proteins 
    Millipore Purified and/or Recombinant PAX6 Protein
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: PAX6
    GenScript Custom Purified and Recombinant Proteins Services for PAX6 
    Novus Biologicals Proteins for PAX6
    Novus Biologicals Lysate for PAX6
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular ----
    GO:0005634 nucleus IDA17291498
    GO:0005730NOT nucleolus IDA18029348
    GO:0005737 cytoplasm IDA18029348
    GO:0044424 intracellular part ----
    About this table

    PAX6 for ontologies           About GeneDecksing



    Antibodies for PAX6: 
    Millipore Mono- and Polyclonal Antibodies for the study of PAX6
    Sigma-Aldrich Antibodies for PAX6
    R&D Systems Antibodies for PAX6
    OriGene Antibodies (see all 2): PAX6
    GenScript Custom Superior Antibodies Services for PAX6 
    Novus Biologicals Antibodies for PAX6
    Epitomics antibodies for PAX6

    Assays for PAX6: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PAX6 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PAX6 


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

    PAX6 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR001523 Paired_box_N
     IPR012287 Homeodomain-rel
     IPR011991 WHTH_trsnscrt_rep_DNA-bd
     IPR001356 Homeobox
     IPR017970 Homeobox_CS

    Graphical View of Domain Structure for InterPro Entry P26367

    ProtoNet protein and cluster: P26367

    1 Blocks protein family: IPB001523 Paired box protein

    UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 1 paired domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367
    Function: Transcription factor with important functions in the development of the eye, nose, central nervous system and
    pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in
    binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the
    ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function
    as a molecular switch that specifies target genes

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for PAX6
    Sigma-Aldrich shRNA for PAX6
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PAX6
    OriGene shRNA RFP (see all 3): PAX6
    OriGene basic RS shRNA (see all 3): PAX6
    OriGene siRNA (see all 3): PAX6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PAX6 
    miRNA:Sigma-Aldrich microRNA Mimics for PAX6
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PAX6 
    8/12 SABiosciences Assays for microRNAs that regulate PAX6 (see all 12):
    hsa-miR-365 hsa-miR-520d-5p hsa-miR-557 hsa-miR-578 hsa-miR-7 hsa-miR-190b hsa-miR-455-3p hsa-miR-369-3p

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PAX6
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): PAX6
    OriGene untagged cDNA clones in CMV expression vector (see all 3): PAX6
    OriGene 3'-UTR clone (see all 3): PAX6 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PAX6 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for PAX6 

    Genatlas biochemistry entry for PAX6:
    paired box (DNA binding) containing protein 6,with homeo domain,expressed in the central nervous system and endocrine
    pancreas,key regulator of eye development and regulator of glial precursors in the ventral neural tube

    5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding TAS10441571
    GO:0003700 sequence-specific DNA binding transcription factor activity IEA--
    GO:0004842 ubiquitin-protein ligase activity ISS--
    GO:0005515 protein binding IPI16098226
    GO:0010843 promoter binding ----
    About this table

    PAX6 for ontologies           About GeneDecksing

    Animal Models: 15/25 MGI mutant phenotypes (inferred from 36 alleles(MGI details for Pax6) (see all 25):

    behavior/neurologicalcardiovascular systemcraniofacialdigestive/alimentaryembryogenesis
    endocrine/exocrine glandgrowth/sizehearing/vestibular/earhomeostasis/metabolismimmune system
    lethality-postnatallethality-prenatal/perinatallife span-post-weaning/agingmusclenervous system

    PAX6 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    PAX6 for pathways           About GeneDecksing

    2 Millipore Pathways for PAX6
        Selected targets of Oct-3/4
    Transcription factors in neurogenesis

    2 Cell Signaling Technology (CST) Pathways for PAX6
        MAPK/Erk in Growth and Differentiation
    SAPK/JNK Signaling Cascades

    1 Kegg Pathway  (Kegg details for PAX6):
        hsa04950 Maturity onset diabetes of the young

        SABiosciences Pathway-Focused PCR Arrays including PAX6 (see all 3): PAHS-075A PAHS-081A  

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAX6

    5 Interacting proteins for PAX6 (P263671, 2 ENSP000003684243) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IPO13O948292, ENSP000003614183MINT-67030 STRING: ENSP00000361418
    HOMER3Q9NSC51EBI-747278,EBI-748420
    TRIM11Q96F441EBI-747278,EBI-851809
    --P310162MINT-7974222
    About this table

    5/51 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 51):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654 eye development TAS10747901
    GO:0001709 cell fate determination ----
    GO:0001764 neuron migration ----
    GO:0002052 positive regulation of neuroblast proliferation ----
    GO:0002088 lens development in camera-type eye ----
    About this table

    PAX6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    PAX6 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PAX6
    10/12 Novoseek chemical compound relationships for PAX6 gene (see all 12)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proglucagon 34.6 2 12697711 (1), 16407227 (1)
    retinoic acid 34.5 6 10394471 (1), 17525239 (1), 14743441 (1), 9503603 (1) (see all 5)
    serine 12.1 7 19917615 (2), 17893655 (1), 9516413 (1), 11553050 (1) (see all 6)
    proline 4.32 6 19917615 (2), 10737978 (1), 9516413 (1), 10955655 (1) (see all 5)
    oxygen 0.81 2 15193293 (1), 17318412 (1)
    glucose 0 23 19034419 (6), 11756345 (5), 15842522 (2), 16079311 (1) (see all 5)
    threonine 0 4 19917615 (2), 11309364 (1), 17374606 (1)
    bromodeoxyuridine 0 6 17277739 (2), 17291498 (1), 19378256 (1)
    alanine 0 1 10737978 (1)
    arginine 0 5 10737978 (1), 10955655 (1), 19806579 (1), 10887930 (1) (see all 5)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for PAX6
    Sigma-Aldrich shRNA for PAX6
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PAX6
    OriGene shRNA RFP (see all 3): PAX6
    OriGene basic RS shRNA (see all 3): PAX6
    OriGene siRNA (see all 3): PAX6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PAX6 
    miRNA: Sigma-Aldrich microRNA Mimics for PAX6
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PAX6 
    8/12 SABiosciences Assays for microRNAs that regulate PAX6 (see all 12):
    hsa-miR-365 hsa-miR-520d-5p hsa-miR-557 hsa-miR-578 hsa-miR-7 hsa-miR-190b hsa-miR-455-3p hsa-miR-369-3p
    Clones: Sigma-Aldrich FLAG tag genes for PAX6
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PAX6
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): PAX6
    OriGene untagged cDNA clones in CMV expression vector (see all 3): PAX6
    OriGene 3'-UTR Clone (see all 3): PAX6 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PAX6 
    Primers: OriGene genome-wide validated SYBR primer pairs: PAX6
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PAX6: PPH02598A

    REFSEQ mRNAs for PAX6 gene (3 alternative transcripts): 

    NM_000280.3  NM_001127612.1  NM_001604.4  

    Additional cDNA sequence: 

    AK074881.1 AK094172.1 AK094249.1 AK314470.1 AY047583.1 AY707088.1 BC011953.1 BX640762.1 
    GQ141695.1 M77844.1 M93650.1 

    24/25 DOTS entries (see all 25):

    DT.95169354  DT.100784691  DT.101977743  DT.91760372  DT.99988304  DT.99956569  DT.100784690  DT.100028797 
    DT.97836474  DT.100784689  DT.97817296  DT.120745287  DT.120745340  DT.97846449  DT.99979680  DT.100028794 
    DT.100028796  DT.75183575  DT.120745294  DT.120745338  DT.120745385  DT.87046009  DT.97800437  DT.97846450 

    24/145 AceView cDNA sequences (see all 145):

    AW139291 CA389929 AK094172 C00607 CA866216 BQ776519 AW514890 BM696268 
    CD675778 BG655782 BQ129988 CA941186 BI962649 BM697312 BM673393 BU735325 
    BC011953 CK430834 AY047583 BF980838 CD673930 BM548821 BI962615 BM712394 

    highest scoring ESTs for PAX6:

    M93650 BC011953 BI822554 BX640762 CA389929 CA391688 F07809 AA773605 AB209177 AI337595 

    Unigene Cluster for PAX6:

    Paired box 6
    Hs.270303  [show with all ESTs]
    Unigene Representative Sequence: NM_000280


    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for PAX6 (see all 21)

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d ·
    SP1:                                      -     -                 -     -     -                 -     -     -     -     -           -                           
    SP2:                                                              -     -     -                 -     -     -     -     -           -                           
    SP3:                                                                                            -     -     -     -     -           -                           
    SP4:                                      -     -                 -     -     -                 -     -     -     -     -                                       
    SP5:                                                                                                                    -                                       

    ExUns: 15e ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24
    SP1:        -     -                 -                                                               
    SP2:        -     -                 -                                                               
    SP3:        -     -                 -                                                               
    SP4:                                                                                                
    SP5:        -     -                 -                                                               

    About this scheme

    ECgene alternative splicing isoforms for PAX6
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000416339 ENST00000379115 ENST00000379123 ENST00000379109 ENST00000379111
    ENST00000379132 ENST00000379129 ENST00000379107 ENST00000464174 ENST00000474783
    ENST00000470027 ENST00000494377 ENST00000471303 ENST00000455099 ENST00000481563
    ENST00000423822 ENST00000438681 ENST00000419022(uc001mtg.3)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    PAX6 expression in normal and diseased human tissues

    1  / 2  / 3

    7 probe-sets matching PAX6 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40740_at2, 3 U95-A 1 1.00 1.00 0.81 0.77 M93650 1.00 1.00 1.00 1
    89571_i_at2 U95-D 1 0.80 1.00 0.84 1.21 -- -- -- -- --
    89573_f_at2 U95-D 1 0.73 1.00 0.75 1.03 -- -- -- -- --
    235795_at2, 3 U133-B 1 1.00 1.00 -- -- AW088232 0.60 1.00 0.82 1
    205646_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000280 0.60 1.00 0.82 1
    235795_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    205646_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    PAX6 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    PAX6 gene expression
    PAX6 gene electronic northern expression
    PAX6 gene sage expression
    About these images

    CGAP SAGE TAG: AACAGTCAGC

    SOURCE GeneReport for Unigene cluster: Hs.270303

    Expression variation in blood from EXPOLDB for PAX6

    UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367
    Tissue specificity: Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6
    shorter form

    Primers: OriGene genome-wide validated SYBR primer pairs: PAX6
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PAX6: PPH02598A
        SABiosciences Expression via Pathway-Focused PCR Arrays including PAX6 (see all 3): PAHS-075A PAHS-081A  


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for PAX6 gene from 5/10 species (see all 10)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    cow
    (Bos taurus)
    PAX61   -- paired box 6 97(n)
    99.76(a)
    286857  NM_001040645.1  NP_001035735.1 
    rat
    (Rattus norvegicus)
    Pax61   -- paired box 6 93.68(n)
    99.76(a)
    25509  NM_013001.1  NP_037133.1 
    mouse
    (Mus musculus)
    Pax61 , 5 2 (55.31 cM)5
    paired box gene 61, 5 94.27(n)1
    99.77(a)1
    185081  NM_013627.31  NP_038655.11 
     AF0082115  AF0082125  (see all 29)
    chicken
    (Gallus gallus)
    PAX61   -- paired box gene 6 87.54(n)
    99.31(a)
    395943  NM_205066.1  NP_990397.1 
    zebrafish
    (Danio rerio)
    pax6b2   -- paired box gene 6b 79.96(n) 60639  AF061252.1 
    About this table        Species with no ortholog for PAX6

    ENSEMBL Gene Tree for PAX6 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for PAX6 gene
    PAX72  PAX32  PAX42  

    PAX6 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/349 NCBI SNPs in PAX6 are shown (see all 349)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs15061,2
    C,F,A,H,31810298(-) ACAGCT/AGGGTG 2 -- ut3117Minor allele frequency- A:0.34MN NA EA NS WA 1184
    rs4959021,2
    C,F,31838181(-) TGGGCC/TGGGAT 1 -- int11Minor allele frequency- T:0.02MN 184
    rs5928591,2
    C,A,H,31819335(-) TTATCC/GTGGGG 3 -- int18Minor allele frequency- G:0.21NA EA WA 220
    rs6082931,2
    C,31808280(-) ATGGTA/GAACAA 2 -- ut3112Minor allele frequency- G:0.15MN NS EA NA WA 760
    rs6282241,2
    C,F,A,31819174(+) AGTTCG/ATTACT 3 -- int112Minor allele frequency- A:0.29EA NS NA WA 2088
    rs6442421,2
    C,F,O,A,31812801(-) TGGGGG/TTCATA 3 -- int111Minor allele frequency- T:0.10MN NA NS EA WA 994
    rs6627021,2
    C,F,O,A,31809070(+) CCCTTC/TTCTGA 2 -- ut31104Minor allele frequency- T:0.21MN NS NA EA PA EU CA WA 6880
    rs6677731,2
    C,F,31815362(-) TCCCAC/TCTGAT 3 -- int16Minor allele frequency- T:0.08MN EA EU NA 2757
    rs6946171,2
    C,31825518(-) CTGCTC/ATCTAA 3 -- int1 ese312Minor allele frequency- A:0.06NS EA NA WA 588
    rs14764221,2
    C31826643(-) GCGGAG/TCATCC 3 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for PAX6 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PAX6: --

    Search QIAGEN SeqTarget long-range PCR primers for resequencing for PAX6 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PAX6 for disorders           About GeneDecksing

    OMIM: 607108   disorders: 106210  604229  604219  148190  136520  120430  165550  120200  206700  

    UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367

  • Defects in PAX6 are the cause of aniridia (AN) [MIM:106210]. A congenital, bilateral, panocular disorder
  • characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in
    iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus.
    Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem
    causing additional visual loss over time
  • Defects in PAX6 are a cause of Peters anomaly [MIM:604229]. Peters anomaly consists of a central corneal
  • leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular
    attachments to the central aspect of the posterior cornea
  • Defects in PAX6 are a cause of ectopia pupillae [MIM:129750]. It is a congenital eye malformation in which the
  • pupils are displaced from their normal central position
  • Defects in PAX6 are a cause of foveal hypoplasia [MIM:136520]. Foveal hypoplasia can be isolated or associated
  • with presenile cataract. Inheritance is autosomal dominant
  • Defects in PAX6 are a cause of autosomal dominant keratitis [MIM:148190]. It is an eye disorder characterized
  • by corneal opacification and vascularization, and by foveal hypoplasia
  • Defects in PAX6 are a cause of ocular coloboma [MIM:120200]; also known as uveoretinal coloboma or coloboma of
  • iris, choroid and retina. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the
    optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Severe colobomatous malformations may cause
    as much as 10% of the childhood blindness. The clinical presentation of ocular coloboma is variable. Some individuals
    may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations
    create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even
    anophthalmia
  • Defects in PAX6 are a cause of coloboma of optic nerve (COLON) [MIM:120430]
  • Defects in PAX6 are a cause of bilateral optic nerve hypoplasia (BONH) [MIM:165550]; also known as bilateral
  • optic nerve aplasia. A congenital anomaly in which the optic disc appears abnormally small. It may be an isolated
    finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of
    the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural
    abnormalities of the pituitary
  • Defects in PAX6 are a cause of aniridia cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]; also
  • known as Gillespie syndrome. A rare condition consisting of partial rudimentary iris, cerebellar impairment of the
    ability to perform coordinated voluntary movements, and mental retardation

    10/48 Novoseek disease relationships for PAX6 gene (see all 48)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aniridia 97.8 328 17893655 (7), 15740668 (6), 15842522 (6), 8364574 (5) (see all 99)
    anomaly peters 91.3 28 8162071 (5), 20405024 (3), 11756345 (2), 10441571 (1) (see all 17)
    wagr syndrome 91.2 11 7896291 (2), 8529675 (1), 15779010 (1), 7527372 (1) (see all 10)
    eye abnormalities 79.5 16 9415682 (2), 7951315 (1), 8689689 (1), 10412187 (1) (see all 13)
    microphthalmia 76.7 7 17406642 (2), 18385072 (1), 17277739 (1), 19004499 (1) (see all 6)
    hypoplasia 72.6 20 10441571 (1), 12953159 (1), 15740668 (1), 16803629 (1) (see all 17)
    coloboma 69.2 1 11826019 (1)
    anophthalmia 67 2 7951315 (1), 18385377 (1)
    wilms tumor 66.1 27 12386836 (2), 1334370 (2), 8717056 (1), 15779010 (1) (see all 17)
    microcornea 65.5 1 19004499 (1)
    About this table

    GeneTests: PAX6
    Aniridia

    Locus Specific Mutation Databases (LSDB): PAX6
    Human Gene Mutation Database (HGMD): PAX6
    Genetic Association Database (GAD): PAX6
    Human Genome Epidemiology (HuGE) Navigator: PAX6 (18 documents)

    Export disorders and mutations for PAX6 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/418 PubMed articles for PAX6 gene, integrated from 7 sources (see all 418):
    (articles sorted by number of sources associating them with PAX6)
    1. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. (PubMed id 11309364)1, 2, 7 Singh S.... Saunders G.F. (2001)
    2. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. (PubMed id 9931324)1, 2, 7 Hanson I.M.... van Heyningen V. (1999)
    3. Missense mutations in the DNA-binding region and termination codon in PAX6. (PubMed id 12552561)1, 2, 7 Chao L.Y....Saunders G.F. (2003)
    4. Missense mutations in the PAX6 gene in aniridia. (PubMed id 9856761)1, 2, 7 Azuma N.... Yamada M. (1998)
    5. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. (PubMed id 8162071)1, 2, 7 Hanson I.M.... van Heyningen V. (1994)
    6. PAX6 mutations in aniridia. (PubMed id 8364574)1, 2, 7 Hanson I.M.... van Heyningen V. (1993)
    7. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. (PubMed id 12721955)1, 2, 7 Azuma N....Yamada M. (2003)
    8. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PubMed id 10234503)1, 2, 7 Groenskov K.... Broendum-Nielsen K. (1999)
    9. PAX6 mutations reviewed. (PubMed id 9482572)1, 2, 7 Prosser J. and van Heyningen V. (1998)
    10. The human PAX6 gene is mutated in two patients with aniridia. (PubMed id 1302030)1, 3, 7 Jordan T....van Heyningen V. (1992)

    (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: 5080 HGNC: 8620 AceView: PAX6 Ensembl:ENSG00000007372 euGenes: HUgn5080
    ECgene: PAX6 Kegg: 5080 H-InvDB: PAX6

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for PAX6 Genetics and Cytogenetics in Oncology and Haematology
    Human PAX6 allelic variant database web sitehttp://pax6.hgu.mrc.ac.uk/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAX6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for PAX6 gene:
    Search GeneIP for patents involving PAX6

    GeneCards and IP:
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