PAX8 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PAX8 |
| Official Name | paired box 8 [Source:HGNC Symbol;Acc:HGNC:8622] |
| Ensembl ID | ENSG00000125618 |
| Bio databases IDs | |
| Aliases | paired box 8 |
| Synonyms | paired box 8, Paired box gene 8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PAX8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- DNA binding domain
- nucleic acid binding
- HTH_ARSR
- transcription activation domain
- protein binding
- sequence-specific DNA binding
- HTH_CRP
- Paired-box protein 2 C terminal
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- 'Paired box' domain
- transcription factor activity
- Paired Box domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- neoplasia
- insomnia
- epithelial cancer
- follicular papillary thyroid carcinoma
- mixed papillary and follicular thyroid cancer
- endometrium tumor
- nongoitrous congenital hypothyroidism type 2
- lung cancer
- familial adenomatous polyposis
role in cell
- activation in
- cell death
- expression in
- apoptosis
- proliferation
- number
- function
- differentiation
- abnormal morphology
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- nuclear foci
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAX8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pronephric field specification
- anatomical structure development
- negative regulation of mesenchymal cell apoptotic process involved in metanephros development
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of apoptotic process involved in metanephric collecting duct development
- negative regulation of apoptotic process involved in metanephric nephron tubule development
- metanephric S-shaped body morphogenesis
- cellular response to gonadotropin stimulus
- metanephric nephron tubule formation
- kidney development
- positive regulation of transcription, DNA-dependent
- mesonephros development
- metanephric distal convoluted tubule development
- negative regulation of mesenchymal stem cell apoptotic process involved in metanephric nephron morphogenesis
- positive regulation of thyroid hormone generation
- otic vesicle development
- regulation of thyroid-stimulating hormone secretion
- positive regulation of metanephric DCT cell differentiation
- regulation of metanephric nephron tubule epithelial cell differentiation
- metanephric epithelium development
- positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
- sulfur compound metabolic process
- transcription, DNA-dependent
- ventricular septum development
- regulation of apoptotic process
- regulation of transcription from RNA polymerase II promoter
- pronephros development
- positive regulation of branching involved in ureteric bud morphogenesis
- mesenchymal to epithelial transition involved in metanephros morphogenesis
- thyroid gland development
- central nervous system development
- urogenital system development
- metanephric comma-shaped body morphogenesis
- branching involved in ureteric bud morphogenesis
- inner ear morphogenesis
- negative regulation of cardiac muscle cell apoptotic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- thyroid-stimulating hormone receptor activity
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity