Gene

pax8

ID
ZDB-GENE-001030-3
Name
paired box 8
Symbol
pax8 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 5 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 anterior/posterior pattern specification involved in pronephros development; otic placode formation; and peripheral nervous system development. Predicted to be located in nucleus. Is expressed in several structures, including endocrine system; mesoderm; nervous system; neurogenic field; and pronephros. Human ortholog(s) of this gene implicated in congenital hypothyroidism and congenital nongoitrous hypothyroidism 2. Orthologous to human PAX8 (paired box 8).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
56 figures from 39 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pax8 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital nongoitrous hypothyroidism 2 Alliance Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 218700
Associated With pax8 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:O93372 429
UniProtKB:F1Q9Q9 448
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations