PAX8

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]

Paired Box 8

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

Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
Anatomical structure morphogenesisManual Assertion Based On ExperimentTAS:ProtInc
Branching involved in ureteric bud morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Cellular response to gonadotropin stimulusManual Assertion Based On ExperimentIDA:UniProtKB
Central nervous system developmentManual Assertion Based On ExperimentIEP:UniProtKB
Inner ear morphogenesisISS:UniProtKB
Kidney developmentManual Assertion Based On ExperimentIEP:UniProtKB
Mesenchymal to epithelial transition involved in metanephros morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Mesonephros developmentISS:UniProtKB
Metanephric comma-shaped body morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric distal convoluted tubule developmentISS:UniProtKB
Metanephric epithelium developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric nephron tubule formationISS:UniProtKB
Metanephric S-shaped body morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Negative regulation of apoptotic process involved in metanephric collecting duct developmentISS:UniProtKB
Negative regulation of apoptotic process involved in metanephric nephron tubule developmentISS:UniProtKB
Negative regulation of cardiac muscle cell apoptotic processIEA:Ensembl
Negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisISS:UniProtKB
Negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentISS:UniProtKB
Otic vesicle developmentManual Assertion Based On ExperimentIEP:UniProtKB
Positive regulation of branching involved in ureteric bud morphogenesisISS:UniProtKB
Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisISS:UniProtKB
Positive regulation of metanephric DCT cell differentiationISS:UniProtKB
Positive regulation of thyroid hormone generationManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Pronephric field specificationISS:UniProtKB
Pronephros developmentISS:UniProtKB
Regulation of apoptotic processISS:UniProtKB
Regulation of metanephric nephron tubule epithelial cell differentiationISS:UniProtKB
Regulation of thyroid-stimulating hormone secretionManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Sulfur compound metabolic processIEA:Ensembl
Thyroid gland developmentManual Assertion Based On ExperimentIMP:UniProtKB
Transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Urogenital system developmentISS:UniProtKB
Ventricular septum developmentIEA:Ensembl

Nucleus

Hypothyroidism, congenital, non-goitrous, 2 (CHNG2):
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.