Gene

pax2a

ID
ZDB-GENE-990415-8
Name
paired box 2a
Symbol
pax2a Nomenclature History
Previous Names
  • Pax-2
  • pax-b
  • pax2.1
  • Pax2.1
  • pax2a1
  • paxb
  • cb378 (1)
  • no isthmus
  • noi
  • pax[zf-b]
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Exhibits sequence-specific DNA binding activity. Involved in several processes, including animal organ development; cilium assembly; and nervous system development. Localizes to nucleus. Is expressed in several structures, including immature eye; mesoderm; nervous system; neural keel; and pronephros. Used to study coloboma. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7 and renal coloboma syndrome. Orthologous to human PAX2 (paired box 2).
Genome Resources
Note
None
Expression
All Expression Data
755 figures from 525 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
56 figures from 33 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pax2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
focal segmental glomerulosclerosis 7 Alliance Glomerulosclerosis, focal segmental, 7 616002
renal coloboma syndrome Alliance Papillorenal syndrome 120330
Associated With pax2a Via Experimental Models
Human Disease Fish Conditions Citations
coloboma pax2atu29a/tu29a standard conditions Moosajee et al., 2008
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001523 Paired domain
Domain IPR022130 Paired-box protein 2 C-terminal
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-like domain superfamily Paired-box protein 2 C-terminal Paired DNA-binding domain Paired domain PAX family Winged helix-like DNA-binding domain superfamily
UniProtKB:Q90268 410
UniProtKB:F1R5S6 292
UniProtKB:F1Q6N9 381
UniProtKB:B8JJS3 400
UniProtKB:F1R6E2 390
UniProtKB:F1QKT4 410
UniProtKB:A0A0R4IAI2 417
UniProtKB:B8JJS4 406
UniProtKB:F1QHP2 375
UniProtKB:F1QEK2 396
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pax2 polyclonal Rabbit
  • IHC
Covance
25
Ab1-pax2a polyclonal Rabbit
  • IHC
  • WB
5
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations