Pax8 Gene Summary [Mouse]
This gene encodes a member of a family of transcription factors that contain a characteristic N-terminal paired DNA-binding domain. The encoded protein is important for proper differentiation of the thyroid and the kidney. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Mar 2013]
Details
| Type | Protein Coding |
| Official Symbol | Pax8 |
| Official Name | paired box 8 [Source:MGI Symbol;Acc:MGI:97492] |
| Ensembl ID | ENSMUSG00000026976 |
| Bio databases IDs | |
| Aliases | paired box 8 |
| Synonyms | paired box 8, Paired box gene 8 |
| Species | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal Mullerian duct morphology
- abnormal action potential
- abnormal adenohypophysis morphology
- abnormal auditory bulla morphology
- abnormal bone remodeling
- abnormal bone trabecula morphology
- abnormal caput epididymis morphology
- abnormal cochlear IHC efferent innervation pattern
- abnormal cochlear hair cell morphology
- abnormal cochlear hair cell stereociliary bundle morphology
- abnormal cochlear inner hair cell physiology
- abnormal corpus epididymis morphology
- abnormal epididymis epithelium morphology
- abnormal epiphyseal plate morphology
- abnormal external auditory canal morphology
- abnormal inner hair cell synaptic ribbon morphology
- abnormal kinocilium morphology
- abnormal middle ear morphology
- abnormal middle ear ossicle morphology
- abnormal organ of Corti morphology
- abnormal outer ear morphology
- abnormal outer hair cell stereociliary bundle morphology
- abnormal pillar cell morphology
- abnormal stapedial artery morphology
- abnormal stapes crus morpholgy
- abnormal stapes morphology
- abnormal thyroid diverticulum morphology
- abnormal thyroid gland development
- abnormal thyroid gland morphology
- abnormal uterus development
- absent efferent ductules of testis
- absent endometrium
- absent epididymis
- absent outer ear
- absent round window
- absent stapedial artery
- absent thyroid follicular cells
- absent thyroid gland
- absent uterine horn
- arrest of spermatogenesis
- cochlear outer hair cell degeneration
- deafness
- decreased bone mineral density
- decreased bone mineral density of femur
- decreased bone mineralization
- decreased bone volume
- decreased circulating thyroxine level
- decreased circulating triiodothyronine level
- decreased compact bone thickness
- decreased femur compact bone thickness
- decreased lactotroph cell number
- decreased somatotroph cell number
- decreased testis weight
- delayed bone ossification
- delayed endochondral bone ossification
- delayed inner ear development
- dilated oviduct
- dilated uterine cervix
- enlarged tectorial membrane
- female infertility
- increased circulating thyroid-stimulating hormone level
- increased or absent threshold for auditory brainstem response
- increased thyroid-stimulating hormone level
- increased thyrotroph cell number
- lethality at weaning complete penetrance
- male infertility
- postnatal growth retardation
- postnatal lethality complete penetrance
- premature death
- short limbs
- small ears
- small epididymis
- small round window
- small thyroid gland
- testicular atrophy
- thin myometrium
- uterus hypoplasia
- vagina atresia
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 mouse 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