ZFIN ID: ZDB-GENE-990415-200
Gene Name: paired box 6a
Gene Symbol: pax6a
Sequence Ontology ID : SO:0000704

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Previous Names: pax-a, Pax6.1, pax6, pax[zf-a] (1), paxzfa, zfpax-6a, cb280 (1), etID309716.25 (1), fc20e07, wu:fc20e07 (1), zfpax-6b

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(Including Attributions)
Location: Chr: 25 Mapping Details/Browsers
Nomenclature History
GENE EXPRESSION
All Expression Data: 187 figures from 136 publications
Directly Submitted Expression Data: 6 figures (19 images) from Thisse et al., 2001 [cb280]
  6 figures (15 images) from Thisse et al., 2005 [eu626]
Wild-type Stages, Structures: Gastrula:75%-epiboly (8.0h-9.0h) to Adult (90d-730d, breeding adult)
  adenohypophyseal placode neuron, amacrine cell, anterior neural keel, anterior neural plate (all 87) expand
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la023151Tg Transgenic Insertion Unknown Unknown DNA
Targeting reagents: MO1-pax6a (1), MO2-pax6a (1), MO3-pax6a (1), MO4-pax6a (1)
PHENOTYPE
Data: Fig. 7 from Nolte et al., 2006
Observed in: anterior/posterior pattern specification, hindbrain development, rhombomere
DISEASE ASSOCIATED WITH pax6a HUMAN ORTHOLOG
Disease Ontology Term OMIM Term OMIM Phenotype ID
aniridia Aniridia 106210
Cataract with late-onset corneal dystrophy 106210
coloboma Coloboma, ocular 120200
coloboma of optic nerve Coloboma of optic nerve 120430
?Morning glory disc anomaly 120430
Peters anomaly Peters anomaly 604229
Keratitis 148190
Foveal hypoplasia 1 136520
Optic nerve hypoplasia 165550
GENE ONTOLOGY
Ontology GO Term
Biological Process positive regulation of transcription from RNA polymerase II promoter (more)
Cellular Component nucleus (more)
Molecular Function RNA polymerase II transcription factor activity, sequence-specific DNA binding (more)
GO Terms (all 17)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR001356 (1)
  • InterPro:IPR001523 (1)
  • InterPro:IPR009057 (1)
  • InterPro:IPR011991 (1)
  • InterPro:IPR017970 (1)
  • PROSITE:PS00027 (1)
  • PROSITE:PS00034 (1)
  • PROSITE:PS50071 (1)
  • PROSITE:PS51057 (1)
  • Pfam:PF00046 (1)
  • Pfam:PF00292 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA pax6a-001 (1) 2797
    pax6a-002 (1) 2730
    pax6a-003 (1) 933
    pax6a-004 (1) 860
    pax6a-005 (1) 1922
    pax6a-006 (1) 1006
    pax6a-007 (1) 699
    pax6a-008 (1) 911
    pax6a-009 (1) 876
    ncRNA pax6a-010 (1) 306
     Withdrawn Transcriptsextinct
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Ab1-pax6a (1), Ab2-pax6 (1), Ab2-pax6a (1)
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM pax6a
    Tg(pax6a-gata2a:mCherry,pax6b-gata2a:GFP), Tg(pax6aCE2-gata2a:GFP), Tg(pax6aCE3-gata2a:GFP), Tg1(pax6a-gata2a:EGFP), Tg2(pax6a-gata2a:EGFP) (all 7) expand
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    pax6aContained in: [BAC] DKEY-82I7 (1) (order this), DKEYP-46C10 (1)
    pax6aEncodes: [EST] cb280 (1) (order this), eu626 (1), fc20e07 (1)
    [cDNA] MGC:76866 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131304 (1) 2809bp
    Genomic GenBank:AL929172 (1) 182666bp
    Select Tool
    Polypeptide UniProtKB:A0A0R4IXU2 (1) 441aa
    Sequence Clusters UniGene:24244 (1)
    Sequence Information (all 56)
    OTHER pax6a GENE PAGES
  • Gene:30567 (1)
  • VEGA:OTTDARG00000018854 (1)
  • Ensembl(GRCz10):ENSDARG00000103379 (1)
  • ORTHOLOGY for pax6a (Chr: 25)
    CITATIONS (285)