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 enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within peripheral nervous system development. Predicted to be located in nucleus. 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; renal Wilms' tumor; and renal coloboma syndrome. Orthologous to human PAX2 (paired box 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
17 figures from 12 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa10953Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-pax2bN/A (7)
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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
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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 Homedomain-like superfamily
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Domain Details Per Protein
Protein Additional Resources Length Homedomain-like superfamily Paired-box protein 2 C-terminal Paired DNA-binding domain Paired domain PAX family Winged helix-like DNA-binding domain superfamily
UniProtKB:O93370 InterPro 386
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 12
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pax2b-201 (1) Ensembl 2,624 nt
mRNA pax2b-202 (1) Ensembl 1,467 nt
mRNA pax2b-203 (1) Ensembl 735 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inFosmidCH1073-86F9ZFIN Curated Data
Contained inFosmidZFOS-1346H10ZFIN Curated Data
EncodescDNAMGC:193755ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanPAX210
Conserved genome location (synteny) (3)
Amino acid sequence comparison (2)
MousePax219
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
Citations
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