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PAX6 Gene

protein-coding   GIFtS: 70
GCID: GC11M031806

Paired Box 6

(Previous names: paired box gene 6 (aniridia, keratitis))
(Previous symbol: AN2)
  See PAX6-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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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 foveal hypoplasia, and isolated aniridia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for PAX6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
Developmental stage: Expressed in the developing eye and brain. Expression in the retina peaks at fetal days
51-60. At 6-week old, in the retina, is predominantly detected in the neural layer (at protein level). At 8- and
10-week old, in the retina, the expression is strongest in the inner and middle layer of the neural part (at
protein level)
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: 

  • Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PAX6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  
    Reactome Protein details: P26367

    PAX6 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PAX6
    OriGene Protein Over-expression Lysate for PAX6
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PAX6
    GenScript Custom Purified and Recombinant Proteins Services for PAX6
    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

     
    Search eBioscience for Proteins for PAX6 

    PAX6 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PAX6
    R&D Systems Antibodies for PAX6
    OriGene Antibodies for PAX6
    OriGene Custom Antibody Services for PAX6
    Novus Biologicals PAX6 Antibodies
    Abcam antibodies for PAX6
    Cloud-Clone Corp. Antibodies for PAX6
    ThermoFisher Antibody for PAX6
    LSBio Antibodies in human, mouse, rat for PAX6

    PAX6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PAX6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PAX6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PAX6
    Cloud-Clone Corp. CLIAs for PAX6
    Search eBioscience for ELISAs for PAX6 


    (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

    5 InterPro protein domains:
     IPR001523 Paired_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     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


    Find genes that share domains with PAX6           About GenesLikeMe


    (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,
    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: 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): Selected molecular function terms (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--
         
    Find genes that share ontologies with PAX6           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 41 alleles(MGI details for Pax6) (see all 24):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with PAX6           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAX6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target PAX6:
    hsa-mir-10b-5p (MIRT006925)

    Block miRNA regulation of human, mouse, rat PAX6 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for PAX6
    Predesigned siRNA for gene silencing in human, mouse, rat PAX6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PAX6

    Clone
    Products:
         
    OriGene clones in human, mouse for PAX6 (see all 16)
    OriGene ORF clones in mouse, rat for PAX6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PAX6 (NM_001127612)
    Sino Biological Human cDNA Clone for PAX6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX6

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PAX6
    Browse ESI BIO Cell Lines and PureStem Progenitors for PAX6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAX6

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA6-11761) for PAX6 


    (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
    PAX6_HUMAN, P26367: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton2
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA--
    GO:0005622intracellular ----
    GO:0005634nucleus IDA17291498
    GO:0005737cytoplasm IDA17291498

    Find genes that share ontologies with PAX6           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 PAX6 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Regulation of beta-cell development0.64
    Maturity onset diabetes of the young0.61
    Regulation of gene expression in beta cells0.64
    2Incretin Synthesis, Secretion, and Inactivation
    Incretin Synthesis, Secretion, and Inactivation0.88
    Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)0.00
    Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)0.88
    3L1CAM interactions
    Developmental Biology0.63
    4ERK Signaling
    ERK Signaling0.61
    5CDC42 signaling events
    CDC42 signaling events0.34


    Find genes that share SuperPaths with PAX6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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


    3 Reactome Pathways for PAX6
        Regulation of gene expression in beta cells
    Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
    Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for PAX6

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

    Selected Interacting proteins for PAX6 (P263671, 2, 3 ENSP000003684014) via UniProtKB, MINT, STRING, and/or I2D (see all 134)
    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): Selected biological process terms (see all 68):    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--

    Find genes that share ontologies with PAX6           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 PAX6

    Selected 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)



    Find genes that share compounds with PAX6           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 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
    Selected 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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PAX6 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for PAX6
    Predesigned siRNA for gene silencing in human, mouse, rat PAX6
    Clone
    Products:
         
    OriGene clones in human, mouse for PAX6 (see all 16)
    OriGene ORF clones in mouse, rat for PAX6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PAX6 (NM_001127612)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAX6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAX6
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PAX6
    OriGene qSTAR qPCR primer pairs in human, mouse for PAX6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAX6
      QuantiTect SYBR Green Assays in human, mouse, rat PAX6
      QuantiFast Probe-based Assays in human, mouse, rat PAX6
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA6-11761) for PAX6 

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 145):

    CK430834 BU071804 BM548821 BQ636001 BE786878 BU729510 BM696268 CA389929 
    BM565566 BM673393 BQ776519 BU789598 AY047583 BU735325 BC011953 BM700064 
    AW514890 BI962649 BM712394 BM702077 BM697312 BF980838 CD722047 CD673930 

    GeneLoc Exon Structure

    Selected 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™, 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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    PAX6 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 29) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 65 entries
             Lens Vesicle Cells Lens Vesicle
             Retinal Pigmented Epithelium
             Limbal stem cells
             Floating retinal precursors
             Human Lens Epithelial Cells (HLEpiC)   
             sensory organ/eye/cornea   
     
     Neural Tube (Nervous System)    fully expand to see all 40 entries
             Early MN Progenitor Cells Motor Neural Progenitor Domain
             Telencephalon
             Neural rosettes
             spinal cord/lateral wall/ventricular layer   
     
     Pancreas (Endocrine System)    fully expand to see all 26 entries
             Delta Cells Islets of Langerhans
             Islets of Langerhans
             Expanded pancreatic progenitor cells
             visceral organ/gut/foregut-midgut junction   
     
     Neural Ectoderm (Nervous System)    fully expand to see all 19 entries
             Spinal Neural Plate Cells Neural Plate
             Matured neural rosettes
             sensory organ/eye/optic pit   
     
     Neurons
             Motor Neural Progenitor Cells Motor Neural Progenitor Domain
             GABA neuron-like cells
    PAX6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAX6 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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

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    This gene was present in the common ancestor of animals.

    Orthologs for PAX6 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pax61 , 5 paired box gene 65
    paired box 61
    94.34(n)1
    99.77(a)1
      2 (55.31 cM)5
    185081  NM_001244198.11  NP_001231127.11 
     1056689005 
    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
    paired box 6
    98(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
    58.48(n)1
    65.94(a)1
      4 102C23
    438331  NM_079899.41  NP_524638.31 
    worm
    (Caenorhabditis elegans)
    Secernentea K06B9.53
    vab-31
    paired box transcription factor3
    vab-31
    69(a)
    (best of 5)3
    55.87(n)1
    57.07(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

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    Paralogs for PAX6 gene
    PAX12  PAX72  PAX32  PAX52  PAX22  PAX82  PAX92  PAX42  
    18 SIMAP similar genes for PAX6 using alignment to 19 protein entries:     PAX6_HUMAN (see all proteins):
    PAX5    PAX2    PAX9    Pax9    PAX1    PAX4
    PAX8    PAX3    NKX2-5    PAX7    HOPX    PRRX1
    HOXA4    DUX2    RAX2    HOXB1    PRRX2    SHOX2

    Find genes that share paralogs with PAX6           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)
    About This Section

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    Selected SNPs for PAX6 (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
    ----------
    rs2000158271,2,,4
    Aniridia (AN)4 --31741747(+) TATGTG/TGGGGG 14 Q P mis10--------
    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--------

    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

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

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    OMIM gene information: 607108   
    OMIM disorders: 106210  604229  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

  • Selected diseases for PAX6 (see all 25):    
    About MalaCards
    foveal hypoplasia    isolated aniridia    keratitis    cataract with late-onset corneal dystrophy
    morning glory disc anomaly    o donnell pappas syndrome    coloboma    pax6-related anophthalmia
    coloboma of iris    aniridia, cerebellar ataxia, and mental retardation    gillespie syndrome    optic nerve hypoplasia
    aniridia    coloboma of optic nerve    dopamine beta-hydroxylase deficiency    peters plus syndrome
    wagr syndrome    anterior segment mesenchymal dysgenesis    rubinstein-taybi syndrome    glaucoma, congenital

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

    Find genes that share disorders with PAX6           About GenesLikeMe

    Selected 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)
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    PubMed articles for PAX6 gene, integrated from 10 sources (see all 482):
    (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. (Mol. Vis. 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. (Hum. Mol. Genet. 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. (Hum. Mol. Genet. 1999)
    4. AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia. (PubMed id 19907666)1, 4, 9 Ng T.K....Pang C.P. (Mol. Vis. 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. (amp 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. (Hum. Mutat. 2003)
    7. Missense mutations in the PAX6 gene in aniridia. (PubMed id 9856761)1, 2, 9 Azuma N.... Yamada M. (Invest. Ophthalmol. Vis. Sci. 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. (Nat. Genet. 1994)
    9. PAX6 mutations in aniridia. (PubMed id 8364574)1, 2, 9 Hanson I.M.... van Heyningen V. (Hum. Mol. Genet. 1993)
    10. A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. (PubMed id 19607881)1, 4, 9 Maekawa M....Yoshikawa T. (Neurosci. Lett. 2009)

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

    (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)
    About This Section

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    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/books/NBK1116/?term=PAX6[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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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