PAX6

Gene Information

Official Symbol: PAX6
Official Name: paired box 6
Aliases and Previous Symbols: N/A
Entrez ID: 5080
UniProt: P26367
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]. COMPLETENESS: complete on the 3' end.
UniProt Summary: Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes. {ECO:0000250}.

Pfam Domains GO Terms

CRISPR Data

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

Global Fraction of Cell Lines Where Essential: 0/739

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	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 8333
Expression level (log2 read counts): 1.83

Expression Distribution

PAX
Homeobox

forebrain-midbrain boundary formation
pancreatic A cell development
somatic motor neuron fate commitment
regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment
epithalamus development
habenula development
regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification
regulation of asymmetric cell division
regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification
oligodendrocyte cell fate specification
glial cell fate specification
oligodendrocyte cell fate commitment
pancreatic A cell differentiation
somatic motor neuron differentiation
lacrimal gland development
positive regulation of core promoter binding
commitment of neuronal cell to specific neuron type in forebrain
cerebral cortex regionalization
forebrain dorsal/ventral pattern formation
regulation of core promoter binding
cornea development in camera-type eye
iris morphogenesis
forebrain neuron fate commitment
cell fate specification involved in pattern specification
ventral spinal cord interneuron specification
dorsal/ventral axis specification
co-SMAD binding
rostrocaudal neural tube patterning
spinal cord motor neuron cell fate specification
regulation of timing of cell differentiation
telencephalon regionalization
glial cell fate commitment
regulation of development, heterochronic
cell fate commitment involved in pattern specification
ventral spinal cord interneuron fate commitment
HMG box domain binding
ventral spinal cord interneuron differentiation
regulation of transcription involved in cell fate commitment
glandular epithelial cell development
type B pancreatic cell differentiation