Version 5.4
Homo sapiens Gene: PAX8
Summary
InnateDB Gene IDBG-66950.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX8
Gene Name paired box 8
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000125618
Encoded Proteins
IDBP-66952
paired box 8
IDBP-66954
paired box 8
IDBP-66960
paired box 8
IDBP-234902
paired box 8
IDBP-384915
paired box 8
IDBP-594863
paired box 8
IDBP-594949
paired box 8
IDBP-598831
paired box 8
IDBP-584000
paired box 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:113215997-113278950
Strand Reverse strand
Band q14.1
Transcripts
ENST00000263334 ENSP00000263334
ENST00000263335 ENSP00000263335
ENST00000348715 ENSP00000314750
ENST00000397647 ENSP00000380768
ENST00000429538 ENSP00000395498
ENST00000465084 ENSP00000452547
ENST00000480684
ENST00000497038 ENSP00000451618
ENST00000468980 ENSP00000451240
ENST00000485840
ENST00000467778
ENST00000554352
ENST00000554830 ENSP00000451213
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 8 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0004996 thyroid-stimulating hormone receptor activity
GO:0005515 protein binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0001655 urogenital system development
GO:0001656 metanephros development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001822 kidney development
GO:0001823 mesonephros development
GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007417 central nervous system development
GO:0009653 anatomical structure morphogenesis
GO:0030154 cell differentiation
GO:0030878 thyroid gland development
GO:0038194 thyroid-stimulating hormone signaling pathway
GO:0039003 pronephric field specification
GO:0042472 inner ear morphogenesis
GO:0042981 regulation of apoptotic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048793 pronephros development
GO:0071371 cellular response to gonadotropin stimulus
GO:0071599 otic vesicle development
GO:0072050 S-shaped body morphogenesis
GO:0072073 kidney epithelium development
GO:0072108 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0072164 mesonephric tubule development
GO:0072207 metanephric epithelium development
GO:0072221 metanephric distal convoluted tubule development
GO:0072278 metanephric comma-shaped body morphogenesis
GO:0072284 metanephric S-shaped body morphogenesis
GO:0072289 metanephric nephron tubule formation
GO:0072305 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis
GO:0072307 regulation of metanephric nephron tubule epithelial cell differentiation
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:1900212 negative regulation of mesenchymal cell apoptotic process involved in metanephros development
GO:1900215 negative regulation of apoptotic process involved in metanephric collecting duct development
GO:1900218 negative regulation of apoptotic process involved in metanephric nephron tubule development
GO:2000594 positive regulation of metanephric DCT cell differentiation
GO:2000611 positive regulation of thyroid hormone generation
GO:2000612 regulation of thyroid-stimulating hormone secretion
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026976
View Gene Order
ENSBTAG00000019354
Not yet available
Pathways
NETPATH
NetPath_5
ID pathway
REACTOME
KEGG
hsa05216
Thyroid cancer pathway
hsa05200
Pathways in cancer pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.469728
RefSeq NM_003466 NM_013952 NM_013953 NM_013992
HUGO
OMIM
CCDS CCDS42735 CCDS42736 CCDS46398 CCDS46399
HPRD 01335
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca