Gene

pax6a

ID
ZDB-GENE-990415-200
Name
paired box 6a
Symbol
pax6a Nomenclature History
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
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 nucleus. Is expressed in several structures, including immature eye; nervous system; neural keel; neural plate; and neural rod. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6).
Genome Resources
Note
None
Expression
All Expression Data
205 figures from 152 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pax6a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
aniridia Alliance Aniridia 106210
aniridia Alliance Cataract with late-onset corneal dystrophy 106210
anterior segment dysgenesis 5 Alliance Anterior segment dysgenesis 5, multiple subtypes 604229
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
coloboma of optic nerve Alliance ?Morning glory disc anomaly 120430
Peters anomaly Alliance Anterior segment dysgenesis 5, multiple subtypes 604229
Foveal hypoplasia 1 136520
Associated With pax6a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017970 Homeobox, conserved site
Domain IPR001356 Homeobox domain
Domain IPR001523 Paired domain
Domain IPR043182 Paired DNA-binding domain
Family IPR043565 PAX family
Homologous_superfamily IPR009057 Homeobox-like domain superfamily
Homologous_superfamily IPR036388 Winged helix-like DNA-binding domain superfamily
Domain Details Per Protein
Protein Length Homeobox, conserved site Homeobox domain Homeobox-like domain superfamily Paired DNA-binding domain Paired domain PAX family Winged helix-like DNA-binding domain superfamily
UniProtKB:A0A0R4I9X4 96
UniProtKB:A0A0R4IPK2 138
UniProtKB:A0A0R4IJK8 17
UniProtKB:A0A0R4IBK7 113
UniProtKB:A0A0R4IQ98 114
UniProtKB:P26630 437
UniProtKB:Q802T9 108
UniProtKB:A0A0R4IDV2 74
UniProtKB:A0A0R4IXU2 441
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
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
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations