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ZIRC
ZFIN ID: ZDB-GENE-990415-200
Gene Name: paired box 6a
Gene Symbol: pax6a    Nomenclature History

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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)
Gene Type: protein_coding_gene
Location: Chr: 25 Mapping Details/Browsers
Description: Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in several processes, including anterior/posterior pattern specification; nervous system development; and positive regulation of transcription by RNA polymerase II. Localizes to the nucleus. Human ortholog(s) of this gene implicated in eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Is expressed in several structures, including immature eye; nervous system; neural keel; neural plate; and neural rod. Orthologous to human PAX6 (paired box 6).
Genome Resources: Alliance (1),  Gene:30567 (1),  Ensembl(GRCz11):ENSDARG00000103379 (1)
GENE EXPRESSION
All Expression Data: 203 figures from 150 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)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la023151Tg Transgenic Insertion Unknown Unknown DNA
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
MO1-pax6a N/A 5
MO2-pax6a N/A 3
MO3-pax6a N/A 2
MO4-pax6a N/A 1
MO5-pax6a N/A 1
DISEASE ASSOCIATED WITH pax6a HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
aniridia Alliance Aniridia 106210
Cataract with late-onset corneal dystrophy 106210
autosomal dominant keratitis Alliance Keratitis 148190
bilateral optic nerve hypoplasia Alliance Optic nerve hypoplasia 165550
coloboma Alliance ?Coloboma, ocular 120200
coloboma of optic nerve Alliance ?Coloboma of optic nerve 120430
?Morning glory disc anomaly 120430
Peters anomaly Alliance Anterior segment dysgenesis 5, multiple subtypes 604229
Foveal hypoplasia 1 136520
DISEASE ASSOCIATED WITH pax6a VIA EXPERIMENTAL MODELS No data available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA pax6a-201 (1)    Ensembl 876
pax6a-202 (1)    Ensembl 860
pax6a-203 (1)    Ensembl 1006
pax6a-204 (1)    Ensembl 2730
pax6a-205 (1)    Ensembl 2797
pax6a-206 (1)    Ensembl 933
pax6a-207 (1)    Ensembl 1922
pax6a-208 (1)    Ensembl 911
pax6a-210 (1)    Ensembl 699
ncRNA pax6a-010 (1)    Ensembl 306
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES
Name Type Isotype Host Organism Assay Source Publications
Ab2-pax6a polyclonal Rabbit IHC 5
Ab2-pax6 polyclonal Rabbit IHC 2
Ab1-pax6a polyclonal IgG Rabbit IHC AnaSpec
3
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM pax6a
Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
Tg(pax6a-gata2a:mCherry,pax6b-gata2a:GFP) gata2apax6apax6b GFPmCherry Danio rerio 1 3
Tg(pax6aCE2-gata2a:GFP) gata2apax6a GFP Danio rerio 1 3
Tg(pax6aCE3-gata2a:GFP) gata2apax6a GFP Danio rerio 1 3
Tg1(pax6a-gata2a:EGFP) gata2apax6a EGFP Danio rerio 1 2
Tg2(pax6a-gata2a:EGFP) gata2apax6a EGFP Danio rerio 1 2
Tg3(pax6a-gata2a:EGFP) gata2apax6a EGFP Danio rerio 1 2
Tg4(pax6a-gata2a:EGFP) gata2apax6a EGFP Danio rerio 1 2
MARKER RELATIONSHIPS
pax6a Contained in: [BAC] DKEY-82I7 (1) (order this), DKEYP-46C10 (1)
pax6a Encodes: [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) 2809 bp
Genomic GenBank:AL929172 (1) 182666 bp
Select Tool
Polypeptide UniProtKB:A0A0R4IXU2 (1) 441 aa
Sequence Clusters UniGene:24244 (1)
Sequence Information (all 58)
ORTHOLOGY for pax6a ( Chr: 25 )
CITATIONS (310)