Gene

pax2b

ID
ZDB-GENE-001030-4
Name
paired box 2b
Symbol
pax2b Nomenclature History
Previous Names
  • pax2.2
  • Pax2.2
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in peripheral nervous system development. Predicted to localize to nuclear chromatin. Is expressed in several structures, including midbrain hindbrain boundary neural keel; midbrain hindbrain boundary neural rod; nervous system; optic vesicle; and spinal cord neural tube. 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
14 figures from 10 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pax2b 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 pax2b Via Experimental Models
No data available
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:F8W405 342
UniProtKB:F8W513 245
UniProtKB:F1R139 386
UniProtKB:O93370 386
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations