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PAX6 Gene

protein-coding   GIFtS: 71

GC11M031768
paired box 6
(Previous names: paired box gene 6 (aniridia, keratitis) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AN2)
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Aliases &
Descriptions
for PAX6

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
AN 1, 2
AN2 2, 3, 5
D11S812E 1, 2
MGC17209 2
MGDA 2, 5
OTTHUMP00000038833 2
OTTHUMP00000038834 2
OTTHUMP00000038835 2
OTTHUMP00000038836 2
OTTHUMP00000038837 2
OTTHUMP00000038838 2
OTTHUMP00000038839 2
OTTHUMP00000038840 2
Oculorhombin 3
WAGR 1, 2
Descriptions
Aniridia type II protein 3
paired box 6 2
paired box gene 6 2
paired box gene 6 (aniridia, keratitis) 1
paired box homeotic gene-6 2
External Ids
HGNC: 86201
Entrez Gene: 50802
UniProtKB: P263673
Ensembl: ENSG000000073727
Search outside databases for aliases for PAX6 gene

Previous GC identifers: GC11M033407 GC11M032586 GC11M031849 GC11M031775

Summaries
for PAX6

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

 EntrezGene 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

Genomic Location
for PAX6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PAX6 gene  

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)

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M031768:     (about GC identifiers)

Start:
 31,766,868 bp from pter
End:
 31,796,085 bp from pter
Size:
 29,218 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000011.8  NT_009237.17  

Proteins
for PAX6

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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)
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   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000368424 ENSP00000368401 ENSP00000368427 ENSP00000368406 ENSP00000368403 ENSP00000241001 
    ENSP00000368418 ENSP00000368410 ENSP00000319499 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for 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
    Recombinant Proteins from Abcam (PAX6)
    Human Recombinant Proteins from Abnova (PAX6)
                  OriGene Purified Recombinant Human Protein: PAX6 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    About this table

    Antibodies for PAX6: 
    Invitrogen Antibodies for PAX6
    Millipore Mono- and Polyclonal Antibodies for the study of PAX6
    Sigma-Aldrich Antibodies for PAX6
    R&D Systems Antibodies for PAX6
    Antibodies from Abcam (PAX6), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PAX6)
    Novus Biologicals Antibodies for PAX6

    Assays for PAX6: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for PAX6

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro domains/families:
     IPR011991 Wing_hlx_DNA_bd
     IPR001356 Homeobox
     IPR017970 Homeobox_CS
     IPR001523 Paired_box_N
     IPR012287 Homeodomain-rel


       GeneDecks  PAX6 for the domains selected above  
    About GeneDecksing

    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

    Gene Function
    for PAX6

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (PAX6)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PAX6)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001127612

                  Applied Biosystems Silencer® siRNAs for PAX6

                  Sigma-Aldrich siRNA for PAX6  
                         Sigma-Aldrich shRNA for PAX6  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for PAX6
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000280
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000280
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_000280 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001604

    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

    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

    15/19 MGI mutant phenotypes (inferred from 33 alleles) (MGI details for Pax6) (see all 19 ):

    craniofacialdigestive/alimentaryembryogenesisendocrine/exocrine glandgrowth/size
    hearing/vestibular/earhomeostasis/metabolismlethality-postnatallethality-prenatal/perinatalnervous system
    pigmentationrenal/urinary systemreproductive systemrespiratory systemskeleton

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity TAS10441571 10747901
    GO:0005515 protein binding IPI16098226
    GO:0043565 sequence-specific DNA binding IEA--
    About this table

    Pathways & Interactions
    for PAX6

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for PAX6 (Maps provided by GeneGo):
     Opioid and somatostatin systems in negative cell growth regulation via MAP kinase pathways

       GeneDecks  PAX6 for the pathways selected above  
    About GeneDecksing

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

       GeneDecks  PAX6 for the pathways selected above  
    About GeneDecksing

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

       GeneDecks  PAX6 for the pathways selected above  
    About GeneDecksing

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

       GeneDecks  PAX6 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  PAX6 


    5/88 Interacting proteins for PAX6 (P263671, 2 ENSP000003684243) via UniProtKB, MINT, and/or STRING (see all 88 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IPO13O948292, ENSP000003614183MINT-67030 STRING (score=.984)
    TRIM11Q96F441, ENSP000002845513EBI-747278, EBI-851809 STRING (score=.966)
    HOMER3Q9NSC51, ENSP000003481503EBI-747278, EBI-748420 STRING (score=.955)
    Dynll1 Dynll1 (xeno)P631681EBI-747278, EBI-349121
    SIX3ENSP000002606533STRING (score=.995)
    About this table

    5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654 eye development TAS10747901
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0007275 multicellular organismal development IEA--
    GO:0007417 central nervous system development TAS10747901
    GO:0007601 visual perception TAS10441571
    About this table

    Drugs & Compounds
    for PAX6

    (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

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

    Browse Tocris compounds for PAX6
    6 Novoseek chemical compound relationships for PAX6 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    proglucagon 36.70 2 12697711 (1), 16407227 (1)
    oxygen 0.92 2 15193293 (1), 17318412 (1)
    bromodeoxyuridine 0.00 5 17277739 (2), 17291498 (1)
    glucose 0.00 23 19034419 (6), 11756345 (5), 15842522 (2), 16079311 (1) (see all 5)
    threonine 0.00 2 11309364 (1), 17374606 (1)
    proline 0.00 4 10737978 (1), 9516413 (1), 10955655 (1), 11309364 (1)
    About this table


    Transcripts
    for PAX6

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    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 Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (PAX6)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PAX6)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001127612

                  Sigma-Aldrich siRNA for PAX6  
                         Sigma-Aldrich shRNA for PAX6  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000280  NM_001127612  NM_001604  

    REFSEQ mRNAs for PAX6 gene (3 alternative transcripts): 

    NM_000280.3   NM_001127612.1   NM_001604.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000280  NM_001127612  NM_001604  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000280
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000280
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_000280 

    Additional cDNA sequence: 

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

    20 DOTS entries:

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

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

    CA397536 CA389929 BM696268 BM548821 CD675778 BM697312 BE786878 CA866216 
    AW445112 BI962649 BI962615 BQ286267 BI438840 BI793088 BU729510 AK094172 
    BU738294 BQ129988 BM565566 AY707088 BU071804 BU789598 BM712394 BQ636001 

    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

    9 Ensembl transcripts including schematic representations:
    ENST00000379129  ENST00000379107  ENST00000379132  ENST00000379111  ENST00000379109  ENST00000241001  
    ENST00000379123  ENST00000379115  ENST00000346294  

    Expression
    for PAX6

    (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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PAX6 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PAX6

    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

    		89573_f_at2 U95-D 1 1.00 1.00 0.75 1.03 -- -- -- -- --

    		89571_i_at2 U95-D 1 1.00 1.00 0.84 1.21 -- -- -- -- --

    		40740_at2, 3 U95-A 1 1.00 1.00 0.81 0.77 M93650 1.00 1.00 1.00 1

    		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
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    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

    Orthologs
    for PAX6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, 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 (58.00 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 36)
    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

    Paralogs
    for PAX6

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PAX6 gene
    PAX72  PAX32  PAX42  

    SNPs/Variants
    for PAX6

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/144 NCBI SNPs in PAX6 are shown (see all 144 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 108)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs30263981,2
    		A,C,F,H,O31765351(-) AGAAGC/TGGCTG 3 -- ut3112Minor allele frequency- T:0.13EU EA WA NA 1000
    rs30264011,2
    		A,C,F,H,O31764100(-) AATGAA/GTACCA 3 -- ut3112Minor allele frequency- G:0.39EA NA EU WA 1054
    rs6627021,2
    		A,C,F,H,O31765646(+) CCCTTC/TTCTGA 3 -- ut3117Minor allele frequency- T:0.18MN NS NA EU EA WA 1254
    rs15061,2
    		A,C,F,H31766874(-) ACAGCT/AGGGTG 3 -- ut319Minor allele frequency- A:0.34MN NA EA EU WA 964
    --
    rs124210261,2
    		A,C,F,H31765898(+) CATGCC/TGGAGC 3 -- ut318Minor allele frequency- T:0.43EU EA WA 816
    rs6082931,2
    		C,F,H31764856(-) ATGGTA/GAACAA 3 -- ut315Minor allele frequency- G:0.13MN EU EA WA 590
    rs169224751,2
    		F,H31763762(+) CTGGGC/GCGGCT 3 -- ut317Minor allele frequency- G:0.05NA EU EA WA 556
    rs30263971,2
    		O31765552(-) CAGTTC/TCGGCC 3 -- ut310--------
    rs118277251,2
    		H31766990(+) GTTTAG/AAATGT 3 -- ut314Minor allele frequency- A:0.00EU EA WA 410
    rs30263991,2
    		H31765073(-) GGATGG/AAGATT 3 -- ut314Minor allele frequency- A:0.00EU EA WA 418
    About this table

    HapMap Linkage Disequilibrium images for PAX6 (up to first 250kb)

    Disorders & Mutations
    for PAX6

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

    		 OMIM: 607108   disorders: 106210  604229  604219  148190  136520  129750  120430  165550  120200  120430  206700  

    UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367

  • Defects in PAX6 are the cause of aniridia type II (AN2) [MIM:106210]. AN2 is a bilateral
    panocular disorder characterized by complete or partial absence of the iris, absence of the fovea
    and malformations of the lens and anterior chamber. Severe age-related corneal degeneration is a
    frequent complication which contributes to a poor visual prognostis in aniridia. About one third
    of the cases are sporadic, and two thirds are familial, with autosomal dominant inheritance and
    high penetrance. Nearly one third of sporadic AN patients develop Wilms tumor in association with
    genitourinary anomalies and mental retardation (WAGR syndrome) as a consequence of heterozygous
    (sub)microscopic deletions of chromosome 11p13
  • 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 [MIM:120430]
  • Defects in PAX6 are a cause of bilateral optic nerve hypoplasia [MIM:165550]; also known
    as bilateral optic nerve aplasia. Inheritance is autosomal dominant
  • Defects in PAX6 are a cause of Gillespie syndrome [MIM:206700]; also called aniridia
    cerebellar ataxia and mental deficiency. Gillespie syndrome is a rare condition consisting of
    partial rudimentary iris, cerebellar impairment of the ability to perform smoothly coordinated
    voluntary movements, and mental retardation. It is not yet clear whether the disorder has an
    autosomal recessive or dominant inheritance

    • 10/45 Novoseek disease relationships for PAX6 gene (see all 45 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    aniridia 97.70 299 17893655 (7), 15740668 (6), 15842522 (6), 8364574 (5) (see all 99)
    anomaly peters 91.79 25 8162071 (5), 11756345 (2), 10441571 (1), 7659159 (1) (see all 16)
    wagr syndrome 91.24 10 7896291 (2), 8529675 (1), 15779010 (1), 7527372 (1) (see all 9)
    eye abnormalities 78.64 14 9415682 (2), 7951315 (1), 8689689 (1), 10412187 (1) (see all 12)
    microphthalmia 77.44 7 17406642 (2), 18385072 (1), 17277739 (1), 19004499 (1) (see all 6)
    hypoplasia 72.40 19 10441571 (1), 12953159 (1), 15740668 (1), 16803629 (1) (see all 16)
    coloboma 69.44 1 11826019 (1)
    anophthalmia 68.58 2 7951315 (1), 18385377 (1)
    wilms tumor 67.70 27 12386836 (2), 1334370 (2), 8717056 (1), 15779010 (1) (see all 17)
    microcornea 67.47 1 19004499 (1)
    About this table

    GeneTests: PAX6
    Aniridia

    Human Gene Mutation Database: PAX6
    Genetic Association Database: PAX6
    Human Genome Epidemiology Navigator: PAX6 (11 documents)

    Medical News
    for PAX6

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

    		   --

    Publications
    for PAX6

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

    		37/367 PubMed articles for PAX6 gene (see all 367 ):

    Search for PAX6

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
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    Genome Databases showing PAX6

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 5080 HGNC: 8620 AceView: PAX6 Ensembl:ENSG00000007372 euGenes: HUgn5080
    ECgene: PAX6 H-InvDB: PAX6

    Other Databases showing PAX6

    (According to HUGE)
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    		   --

    Specialized Databases showing PAX6

    (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.genetests.org/query?gene=PAX6

    Licensable Technologies
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    Enzo Life Sciences, and/or Tocris Bioscience)
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