InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAX8

Summary

InnateDB Protein

IDBP-234902.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAX8

Protein Name

paired box 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000380768

InnateDB Gene

IDBG-66950 (PAX8)

Protein Structure

UniProt Annotation

Function

Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.

Subcellular Localization

Nucleus.

Disease Associations

Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]: A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. {ECO:0000269PubMed:11232006, ECO:0000269PubMed:11502839, ECO:0000269PubMed:9590296}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the excretory system, thyroid gland and Wilms tumors.

Comments

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: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: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:0072108	positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
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