PAX8

Gene Information

Official Symbol: PAX8
Official Name: paired box 8
Aliases and Previous Symbols: N/A
Entrez ID: 7849
UniProt: Q06710
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

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

Pfam Domains GO Terms

Pfam Domains

PAX

Pax2 C

GO Terms

regulation of thyroid-stimulating hormone secretion

positive regulation of metanephric DCT cell differentiation

negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis

thyroid-stimulating hormone receptor activity

thyroid-stimulating hormone signaling pathway

regulation of metanephric DCT cell differentiation

regulation of apoptotic process involved in metanephric nephron tubule development

pronephric field specification

negative regulation of apoptotic process involved in metanephric nephron tubule development

negative regulation of apoptotic process involved in metanephric collecting duct development

regulation of apoptotic process involved in metanephric collecting duct development

pattern specification involved in pronephros development

kidney field specification

regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis

regulation of mesenchymal cell apoptotic process involved in metanephros development

metanephric comma-shaped body morphogenesis

positive regulation of thyroid hormone generation

kidney rudiment formation

negative regulation of mesenchymal cell apoptotic process involved in metanephros development

regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis

positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis

negative regulation of somatic stem cell population maintenance

negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis

metanephric nephron tubule formation

regulation of thyroid hormone generation

comma-shaped body morphogenesis

metanephric distal convoluted tubule development

distal convoluted tubule development

metanephric S-shaped body morphogenesis

negative regulation of apoptotic process involved in morphogenesis

negative regulation of apoptotic process involved in development

metanephric tubule formation

regulation of somatic stem cell population maintenance

negative regulation of stem cell population maintenance

S-shaped body morphogenesis

mesenchymal to epithelial transition involved in metanephros morphogenesis

regulation of metanephric nephron tubule epithelial cell differentiation

metanephric distal tubule development

positive regulation of epithelial cell differentiation involved in kidney development

metanephric nephron tubule morphogenesis

regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis

pronephros development

renal system pattern specification

pattern specification involved in kidney development

negative regulation of metanephros development

negative regulation of mesenchymal cell apoptotic process

metanephric renal vesicle morphogenesis

metanephric tubule morphogenesis

regulation of apoptotic process involved in development

distal tubule development

regulation of apoptotic process involved in morphogenesis

renal vesicle morphogenesis

regulation of mesenchymal cell apoptotic process

regulation of nephron tubule epithelial cell differentiation

renal vesicle development

otic vesicle development

positive regulation of metanephros development

metanephric nephron tubule development

mesenchymal to epithelial transition

positive regulation of hormone metabolic process

specification of animal organ identity

negative regulation of kidney development

metanephric nephron epithelium development

nephron tubule formation

cell differentiation involved in metanephros development

cellular response to gonadotropin stimulus

metanephric tubule development

positive regulation of branching involved in ureteric bud morphogenesis

regulation of epithelial cell differentiation involved in kidney development

metanephric nephron morphogenesis

positive regulation of mesonephros development

metanephric epithelium development

thyroid gland development

negative regulation of cardiac muscle cell apoptotic process

regulation of branching involved in ureteric bud morphogenesis

regulation of metanephros development

negative regulation of striated muscle cell apoptotic process

regulation of mesonephros development

metanephros morphogenesis

regulation of stem cell population maintenance

response to gonadotropin

epithelial cell differentiation involved in kidney development

metanephric nephron development

negative regulation of animal organ morphogenesis

positive regulation of morphogenesis of an epithelium

animal organ formation

negative regulation of muscle cell apoptotic process

regulation of cardiac muscle cell apoptotic process

regulation of hormone metabolic process

regulation of striated muscle cell apoptotic process

positive regulation of kidney development

cell differentiation involved in kidney development

branching involved in ureteric bud morphogenesis

ureteric bud morphogenesis

mesonephric tubule morphogenesis

regulation of kidney development

regulation of morphogenesis of a branching structure

positive regulation of epithelial cell differentiation

nephron tubule morphogenesis

nephron epithelium morphogenesis

nephron morphogenesis

regulation of muscle cell apoptotic process

renal tubule morphogenesis

ventricular septum development

nephron tubule development

renal tubule development

positive regulation of animal organ morphogenesis

metanephros development

kidney morphogenesis

ureteric bud development

mesonephric tubule development

mesonephric epithelium development

mesonephros development

nephron epithelium development

inner ear morphogenesis

cardiac septum development

ear morphogenesis

endocrine system development

embryonic epithelial tube formation

nephron development

cardiac ventricle development

kidney epithelium development

branching morphogenesis of an epithelial tube

epithelial tube formation

regulation of epithelial cell differentiation

morphogenesis of embryonic epithelium

tube formation

morphogenesis of a branching epithelium

morphogenesis of a branching structure

cardiac chamber development

regulation of morphogenesis of an epithelium

inner ear development

regulation of peptide hormone secretion

transcription regulatory region DNA binding

ear development

sensory organ morphogenesis

regulation of animal organ morphogenesis

regulation of hormone secretion

kidney development

renal system development

embryonic organ morphogenesis

epithelial tube morphogenesis

urogenital system development

regionalization

sulfur compound metabolic process

gland development

morphogenesis of an epithelium

embryonic organ development

pattern specification process

DNA-binding transcription activator activity, RNA polymerase II-specific

regulation of peptide secretion

RNA polymerase II proximal promoter sequence-specific DNA binding

heart development

regulation of hormone levels

sensory organ development

tissue morphogenesis

embryonic morphogenesis

cellular response to hormone stimulus

transcription, DNA-templated

nucleic acid-templated transcription

RNA biosynthetic process

tube morphogenesis

DNA-binding transcription factor activity

epithelial cell differentiation

regulation of peptide transport

regulation of secretion by cell

regulation of secretion

tube development

circulatory system development

negative regulation of apoptotic process

anatomical structure formation involved in morphogenesis

negative regulation of programmed cell death

response to hormone

negative regulation of developmental process

animal organ morphogenesis

positive regulation of cell differentiation

embryo development

central nervous system development

negative regulation of cell death

regulation of anatomical structure morphogenesis

nucleobase-containing compound biosynthetic process

epithelium development

heterocycle biosynthetic process

aromatic compound biosynthetic process

negative regulation of multicellular organismal process

positive regulation of transcription by RNA polymerase II

cellular response to endogenous stimulus

organic cyclic compound biosynthetic process

G protein-coupled receptor signaling pathway

positive regulation of developmental process

DNA binding

response to endogenous stimulus

positive regulation of transcription, DNA-templated

regulation of apoptotic process

DNA-binding transcription factor activity, RNA polymerase II-specific

regulation of programmed cell death

cellular nitrogen compound biosynthetic process

positive regulation of nucleic acid-templated transcription

positive regulation of RNA biosynthetic process

RNA metabolic process

regulation of cell death

cellular macromolecule biosynthetic process

positive regulation of RNA metabolic process

positive regulation of multicellular organismal process

tissue development

macromolecule biosynthetic process

regulation of cell differentiation

regulation of transport

positive regulation of nucleobase-containing compound metabolic process

positive regulation of macromolecule biosynthetic process

positive regulation of cellular biosynthetic process

positive regulation of gene expression

gene expression

positive regulation of biosynthetic process

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Compound Hit

Screen	Score
HMS-I1 1μM R01 exp46	2.26

Most Correlated Genes in Chemogenomics

Gene	Correlation
HGC6.3	0.453

Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 27/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	8/21
liver	1/20
lung	1/75
lymphocyte	0/16
ovary	8/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	1/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	3/5

Essentiality in NALM6

Essentiality Rank: 9895
Expression level (log2 read counts): 2.36

Expression Distribution