Research
General Information
ZIRC
ZFIN ID: ZDB-GENE-001031-1
Gene Name: paired box 6b
Gene Symbol: pax6b
Previous Names: cb566 (1), Pax6.2, fc09c10, id:ibd5095 (1), sri(l), wu:fc09c10 (1), wu:fc33g08
Location: Chr: 7   Details
Nomenclature History
GENE EXPRESSION
All Expression Data: 67 figures from 44 publications
Directly Submitted Expression Data: 6 figures (10 images) from Thisse et al., 2001 [cb566]
  6 figures (36 images) from Thisse et al., 2004 [MGC:92546]
  3 figures (4 images) from Kudoh et al., 2001 [ibd5095]
Wild-type Stages, Structures: Gastrula:50%-epiboly (5.25h-5.66h) to Adult (90d-730d, breeding adult)
  amacrine cell, anterior neural plate, brain, ciliary marginal zone (all 45) expand
Curated Microarray Expression: GEO (1)
MUTANTS AND TARGETED KNOCKDOWNS
Mutant lines: 7 genotypes
Alleles: la010682Tg, la029282Tg, sa11497, sa13392, sa15822 (all 8) expand
Knockdown reagents: MO1-pax6b (1), MO2-pax6b (1), MO3-pax6b (1), MO4-pax6b (1), MO5-pax6b (1) (all 8) expand
PHENOTYPE
Data: 14 figures from 7 publications
Observed in: anatomical system, anterior/posterior pattern specification, cornea, D cell (all 17) expand

Phenotype of Human Orthologue OMIM Phenotype ID
Aniridia 106210
Cataract with late-onset corneal dystrophy 106210
Coloboma of optic nerve 120430
Coloboma, ocular 120200
Foveal hypoplasia 1 136520
Gillespie syndrome 206700
Keratitis 148190
Optic nerve hypoplasia 165550
Peters anomaly 604229
?Morning glory disc anomaly 120430
GENE ONTOLOGY
Ontology GO Term
Biological Process positive regulation of transcription from RNA polymerase II promoter (more)
Cellular Component nucleus (more)
Molecular Function sequence-specific DNA binding RNA polymerase II transcription factor activity (more)
GO Terms (all 18)
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 pax6b-001 (1) 1757
    ncRNA pax6b-002 (1) 1598
    mRNA pax6b-003 (1) 557
    pax6b-004 (1) 394
    pax6b-005 (1) 578
    ncRNA pax6b-006 (1) 683
    pax6b-007 (1) 681
    GENE PRODUCT DESCRIPTION
    ANTIBODIES
    Ab2-pax6 (1)
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM pax6b
    Tg(pax6a-gata2:mCherry,pax6b-gata2:GFP), Tg(pax6b-gata2a:EGFP), Tg(pax6b:DsRed), Tg(pax6b:GFP)
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    pax6b Contained in: [BAC] DKEY-157G7 (1)
    pax6b Contains: [SNP] rs3728027 (1), rs3728028 (1)
    pax6b Encodes: [EST] cb566 (1) (order this), fc09c10, fc33g08, ibd5095 (order this)
    [cDNA] MGC:92546 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131641 (1) 1733 bp
    Genomic GenBank:BX000453 (1) 163585 bp
    Select Tool
    Polypeptide UniProtKB:Q9YHZ8 (1) 437 aa
    Sequence Clusters UniGene:132861 (1)
    Sequence Information (all 38)
    OTHER pax6b GENE PAGES
  • Gene:60639 (1)
  • VEGA:OTTDARG00000018846 (1)
  • Ensembl(Zv9):ENSDARG00000045936 (1)
  • ORTHOLOGY
      Evidence
    Species Symbol Chr (Position) Accession # AA CL
    Zebrafish pax6b 7  
    Human PAX6 11 (11p13)
  • OMIM:607108
  • Gene:5080
  • Mouse Pax6 2 ( 55.31 cM)
  • MGI:97490
  • Gene:18508
  • Orthology Details
    CITATIONS (99)