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

PAX6 Gene

protein-coding   GIFtS: 69
GCID: GC11M031806

Paired Box 6

(Previous names: paired box gene 6 (aniridia, keratitis))
(Previous symbol: AN2)
  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 61 2     AN2
AN21 2 3 5     D11S812E2
Aniridia Type II Protein2 3     WAGR2
MGDA2 5     oculorhombin2
aniridia1     Paired Box Homeotic Gene-62
keratitis1     Paired Box Protein Pax-62
Paired Box Gene 6 (Aniridia, Keratitis)1     Oculorhombin3

External Ids:    HGNC: 86201   Entrez Gene: 50802   Ensembl: ENSG000000073727   OMIM: 6071085   UniProtKB: P263673   

Export aliases for PAX6 gene to outside databases

Previous GC identifers: GC11M033407 GC11M032586 GC11M031849 GC11M031775 GC11M031768 GC11M031501


(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 PAX6 Gene:
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 multiple isoforms have been observed for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for PAX6 Gene: 
PAX6 (paired box 6) is a protein-coding gene. Diseases associated with PAX6 include aniridia, and coloboma, and among its related super-pathways are Rho Family GTPases and Regulation of beta-cell development. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PAX1.

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 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_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PAX6 gene promoter:
         PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PAX6 promoter sequence
   Search SABiosciences Chromatin IP Primers for PAX6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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 information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M031806:  view genomic region     (about GC identifiers)

Start:
31,806,340 bp from pter      End:
31,839,509 bp from pter
Size:
33,170 bases      Orientation:
minus 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: 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
2 PDB 3D structures from and Proteopedia for PAX6:
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

Explore proteomics data for PAX6 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P26367

  • PAX6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PAX6 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_000271.1  NP_001121084.1  NP_001245391.1  NP_001245392.1  NP_001245393.1  NP_001245394.1  NP_001595.2  

    ENSEMBL proteins: 
     ENSP00000368427   ENSP00000368424   ENSP00000368401   ENSP00000241001   ENSP00000368410  
     ENSP00000368406   ENSP00000368418   ENSP00000368403   ENSP00000397384   ENSP00000431585  
     ENSP00000388132   ENSP00000404356   ENSP00000436365   ENSP00000404100  

    Human Recombinant Protein Products for PAX6: 
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    Novus Biologicals PAX6 Proteins
    Novus Biologicals PAX6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAX6 

    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:0000790nuclear chromatin IDA--
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    PAX6 for ontologies           About GeneDecksing



    PAX6 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for PAX6


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

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

    Graphical View of Domain Structure for InterPro Entry P26367

    ProtoNet protein and cluster: P26367

    1 Blocks protein domain: 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


    PAX6 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: 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

         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

         Gene Ontology (GO): 5/17 molecular function terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IDA--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IDA--
    GO:0003677DNA binding TAS10441571
    GO:0003680AT DNA binding IEA--
    GO:0003690double-stranded DNA binding IEA--
         
    PAX6 for ontologies           About GeneDecksing


    Phenotypes:
         15/24 MGI mutant phenotypes (inferred from 38 alleles(MGI details for Pax6) (see all 24):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  nervous system 

    PAX6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PAX6: Pax6tm1Lan Pax6tm1.1Ued Pax6tm1Gfs

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PAX6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PAX6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAX6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAX6 

    miRNA
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    8/131 QIAGEN miScript miRNA Assays for microRNAs that regulate PAX6 (see all 131):
    hsa-miR-579 hsa-miR-140-5p hsa-miR-376b hsa-miR-138-2* hsa-miR-4275 hsa-miR-130b hsa-miR-4273 hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmidPAX6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for PAX6
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX6


    (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 PAX6 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Rho Family GTPases
    ERK Signaling0.61
    2Regulation of beta-cell development
    Maturity onset diabetes of the young0.56
    3CDC42 signaling events
    CDC42 signaling events0.34
    4Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    5Selected targets of Oct-3/4
    Selected targets of Oct-3/4

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PAX6
        ERK Signaling
    Transcriptional Regulatory Network in Embryonic Stem Cell

    2 BioSystems Pathways for PAX6
        Cardiac Progenitor Differentiation
    CDC42 signaling events



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


    PAX6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAX6

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

    5/59 Interacting proteins for PAX6 (P263671, 2, 3 ENSP000003684014) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL9P329693I2D: score=3 
    RPL9P7P329693I2D: score=3 
    RPL9P8P329693I2D: score=3 
    RPL9P9P329693I2D: score=3 
    IPO13O948292, 3, ENSP000003614184MINT-67030 I2D: score=7 STRING: ENSP00000361418
    About this table

    Gene Ontology (GO): 5/67 biological process terms (GO ID links to tree view) (see all 67):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IMP7550230
    GO:0001654eye development TAS10747901
    GO:0001709cell fate determination IEA--
    GO:0001764neuron migration IEA--
    GO:0002052positive regulation of neuroblast proliferation IEA--

    PAX6 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

    PAX6 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PAX6

    10/12 Novoseek inferred chemical compound relationships for PAX6 gene (see all 12)    About this table
    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)

    Search CenterWatch for drugs/clinical trials and news about PAX6

    (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 PAX6 gene (7 alternative transcripts): 
    NM_000280.4  NM_001127612.1  NM_001258462.1  NM_001258463.1  NM_001258464.1  NM_001258465.1  NM_001604.5  

    Unigene Cluster for PAX6:

    Paired box 6
    Hs.270303  [show with all ESTs]
    Unigene Representative Sequence: NM_000280
    18/30 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000379132 ENST00000379129 ENST00000379107 ENST00000464174 ENST00000241001
    ENST00000379115 ENST00000474783 ENST00000379111(uc021qfn.1) ENST00000379123
    ENST00000494377 ENST00000470027 ENST00000379109 ENST00000533333 ENST00000532916
    ENST00000530373 ENST00000531910 ENST00000471303 ENST00000455099
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    Additional mRNA sequence: 

    AB593092.1 AB593093.1 AB593094.1 AK074881.1 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.97817296  DT.120745340  DT.97846449  DT.99979680  DT.100028794  DT.100028796  DT.100784689 
    DT.120745287  DT.75183575  DT.120745294  DT.120745338  DT.120745385  DT.87046009  DT.97800437  DT.97846450 

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

    CD723903 BU789598 AW514890 AW139291 AK094172 CA389929 CK430834 CA941186 
    BI438840 BC011953 BG655782 CD675778 CD673930 CA866216 BM712394 BM696268 
    BU729510 BI793088 CD722047 C00607 BM702077 CD513806 BX281768 BM673393 

    GeneLoc Exon Structure

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

    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:        -     -                 -                                                               


    ECgene alternative splicing isoforms for PAX6

    (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

    PAX6 expression in normal human tissues (normalized intensities)      PAX6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACAGTCAGC
    PAX6 Expression
    About this image


    PAX6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Brain (Nervous System)    fully expand to see all 45 entries
             d4 Neural Progenitor Cells dP4 Neural Domain
             Thalamus
             bFGF induced cells ( Generation of motor and gamma-aminobutyric acid (GABA) neurons...
             Human Cerebellar Astrocytes   
             cerebellum   
     
     Neural Tube (Nervous System)    fully expand to see all 40 entries
             V1 Neural Progenitor Cells pV1 Neural Domain
             Telencephalon
             Neural rosettes ( Derivation of neural crest cells and their progeny (MS-5 feeder...
             spinal cord/lateral wall/ventricular layer   
     
     Eye (Sensory Organs)    fully expand to see all 33 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
             Retinal Pigmented Epithelium
             Limbal stem cells
             Retinal pigmented epithelium cells ( Direct differentiation of human embryonic stem...
             Human Iris Pigment Epithelial Cells (HIPEpiC)   
             sensory organ/eye/cornea   
     
     Pancreas (Endocrine System)    fully expand to see all 27 entries
             Delta Cells Islets of Langerhans
             Islets of Langerhans
             Posterior foregut ( Generation of pancreatic progenitor cells from clinical-grade...
             visceral organ/gut/foregut-midgut junction   
     
     Neural Ectoderm (Nervous System)    fully expand to see all 15 entries
             Spinal Neural Plate Cells Neural Plate
             Neural rosettes ( Generation of oligodendrocytes and spinal motor neurons from human...
             sensory organ/eye/optic pit   

    See PAX6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAX6

    SOURCE GeneReport for Unigene cluster: Hs.270303

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including PAX6 (see all 6): 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Transcription Factors in human mouse rat

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    (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 PAX6 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 Pax61 , 5 paired box gene 61, 5 94.34(n)1
    99.77(a)1
      2 (55.31 cM)5
    185081  NM_013627.51  NP_038655.11 
     1056688965 
    chicken
    (Gallus gallus)
    Aves PAX61 paired box 6 87.54(n)
    99.31(a)
      395943  NM_205066.1  NP_990397.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAX66
    Uncharacterized protein
    99(a)
    1 ↔ 1
    1(60705219-60743090)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC525312 similar to paired box gene 6 79.93(n)    U77532.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pax6b2 paired box gene 6b 79.96(n)   60639  AF061252.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ey3
    toy1
    glia cell migration transcription
    factor3
    twin of eyeless1
    93(a)
    (best of 4)3
    58.31(n)1
    65.45(a)1
      4 102C23
    438331  NM_079899.31  NP_524638.31 
    worm
    (Caenorhabditis elegans)
    Secernentea K06B9.53
    vab-31
    paired box transcription factor3
    Protein VAB-31
    69(a)
    (best of 5)3
    55.38(n)1
    56.15(a)1
      IV(4199863-4204573)3
    1812511  NM_001029399.21  NP_001024570.11 


    ENSEMBL Gene Tree for PAX6 (if available)
    TreeFam Gene Tree for PAX6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PAX6 gene
    PAX12  PAX72  PAX32  PAX52  PAX22  PAX82  PAX92  PAX42  
    18/28 SIMAP similar genes for PAX6 using alignment to 29 protein entries:     PAX6_HUMAN (see all proteins) (see all similar genes):
    PAX5    PAX2    PAX9    Pax9    PAX1    PITX2
    PHOX2B    PAX4    PAX8    MNX1    PRRX1    SHOX2
    NKX2-5    PITX1    PAX3    PAX7    RAX2    HOPX

    PAX6 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

    10/711 SNPs in PAX6 are shown (see all 711)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0478614
    Aniridia (AN)4--see VAR_0478612 L R mis40--------
    VAR_0087084
    Aniridia (AN)4--see VAR_0087082 Q R mis40--------
    VAR_0086954
    Aniridia (AN)4--see VAR_0086952 A P mis40--------
    VAR_0086944
    Aniridia (AN)4--see VAR_0086942 I S mis40--------
    VAR_0038084
    Aniridia (AN)4--see VAR_0038082 N S mis40--------
    VAR_0038134
    Aniridia (AN)4--see VAR_0038132 I R mis40--------
    VAR_0478604
    Aniridia (AN)4--see VAR_0478602 R P mis40--------
    VAR_0087024
    Foveal hypoplasia (FOVHYP)4--see VAR_0087022 G V mis40--------
    VAR_0038144
    Foveal hypoplasia (FOVHYP)4--see VAR_0038142 R C mis40--------
    VAR_0478664
    Aniridia (AN)4--see VAR_0478662 R T mis40--------

    HapMap Linkage Disequilibrium report for PAX6 (31806340 - 31839509 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PAX6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897188CNV Loss21882294
    nsv7728CNV Loss18451855
    nsv825816CNV Gain20364138
    nsv825815CNV Gain20364138


    Human Gene Mutation Database (HGMD): PAX6

    Locus Specific Mutation Databases (LSDB): PAX6
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing PAX6:
    Birth Defects
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PAX6
    DNA2.0 Custom Variant and Variant Library Synthesis for PAX6

    (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: 607108   
    OMIM disorders: 106210  604229  604219  148190  136520  120430  165550  120200  206700  
    UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Peters anomaly (PAN) [MIM:604229]: 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Foveal hypoplasia (FOVHYP) [MIM:136520]: Foveal hypoplasia can be isolated or associated with presenile
    cataract. Inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Keratitis hereditary (KERH) [MIM:148190]: An ocular disorder characterized by corneal opacification,
    recurrent stromal keratitis and vascularization. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Coloboma of iris choroid and retina (COI) [MIM:120200]: Set of malformations resulting from abnormal
    morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Coloboma of optic nerve (COLON) [MIM:120430]: An ocular defect that is due to malclosure of the fetal
    intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of
    the physiologic cup with severely affected eyes showing huge cavities at the site of the disk. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A congenital anomaly in which the optic disk
    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. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Aniridia, cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]: A rare condition consisting of
    partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and
    mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/85 diseases for PAX6 (see all 85):    About MalaCards
    aniridia    coloboma    keratitis    aniridia, cerebellar ataxia, and mental retardation
    isolated aniridia    cataract with late-onset corneal dystrophy    morning glory disc anomaly    foveal hyperplasia
    coloboma of optic nerve    keratitis, hereditary    aniridia, cerebellar ataxia and mental deficiency    optic nerve hypoplasia
    peters anomaly    wilms tumor-aniridia-genital anomalies-retardation syndrome    o donnell pappas syndrome    pax6-related anophthalmia
    wagr syndrome    intestinal atresia    iris hypoplasia    iris hypoplasia and glaucoma

    10 diseases from the University of Copenhagen DISEASES database for PAX6:
    Aniridia     WAGR syndrome     Microphthalmia     Coloboma
    Keratopathy     Congenital nystagmus     Myopia     Glaucoma
    Nephroblastoma     Intellectual disability

    PAX6 for disorders           About GeneDecksing

    10/48 Novoseek inferred disease relationships for PAX6 gene (see all 48)    About this table

    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)

    GeneTests: PAX6
    GeneReviews: PAX6
    Genetic Association Database (GAD): PAX6
    Human Genome Epidemiology (HuGE) Navigator: PAX6 (19 documents)

    Export disorders for PAX6 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 PAX6 gene, integrated from 9 sources (see all 478):
    (articles sorted by number of sources associating them with PAX6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PAX6 missense mutations associated in patients with optic nerve malformation. (PubMed id 16604056)1, 4, 9 Nallathambi J....Sundaresan P. (2006)
    2. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. (PubMed id 11309364)1, 2, 9 Singh S.... Saunders G.F. (2001)
    3. 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, 9 Hanson I.M.... van Heyningen V. (1999)
    4. AC and AG dinucleotide repeats in the PAX6 P1 promote r are associated with high myopia. (PubMed id 19907666)1, 4, 9 Ng T.K....Pang C.P. (2009)
    5. Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families. (PubMed id 19124844)1, 4, 9 Han W....Yip S.P. (2009)
    6. Missense mutations in the DNA-binding region and termination codon in PAX6. (PubMed id 12552561)1, 2, 9 Chao L.Y....Saunders G.F. (2003)
    7. Missense mutations in the PAX6 gene in aniridia. (PubMed id 9856761)1, 2, 9 Azuma N.... Yamada M. (1998)
    8. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. (PubMed id 8162071)1, 2, 9 Hanson I.M.... van Heyningen V. (1994)
    9. PAX6 mutations in aniridia. (PubMed id 8364574)1, 2, 9 Hanson I.M.... van Heyningen V. (1993)
    10. A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. (PubMed id 19607881)1, 4, 9 Maekawa M....Yoshikawa T. (2009)

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

    (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 PAX6 Pharmacogenomics, SNPs, Pathways
    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 LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PAX6 gene:
    Search GeneIP for patents involving PAX6

    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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