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Gene: PAX6 (paired box 6) Homo sapiens
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Symbol: PAX6
Name: paired box 6
Description: Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific; R-SMAD binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including camera-type eye development; pancreatic A cell development; and positive regulation of core promoter binding activity. Localizes to cytosol; nuclear chromatin; and nucleoplasm. Implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Biomarker of pancreatic ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AN; AN1; AN2; Aniridia 1; Aniridia 2; aniridia type II protein; ASGD5; D11S812E; FVH1; MGC17209; MGDA; oculorhombin; paired box homeotic gene-6; paired box protein Pax-6; WAGR
Orthologs:
Mus musculus (house mouse) : Pax6 (paired box 6)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pax6 (paired box 6)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pax6 (paired box 6)
Pan paniscus (bonobo/pygmy chimpanzee) : PAX6 (paired box 6)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pax6 (paired box 6)
Sus scrofa (pig) : PAX6 (paired box 6)
Chlorocebus sabaeus (African green monkey) : PAX6 (paired box 6)
Heterocephalus glaber (naked mole-rat) : Pax6 (paired box 6)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1131,784,779 - 31,817,961 (-)EnsemblGRCh38hg38GRCh38
GRCh381131,789,026 - 31,817,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371131,806,340 - 31,839,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361131,767,034 - 31,789,455 (-)NCBINCBI36hg18NCBI36
Build 341131,768,057 - 31,789,341NCBI
Celera1131,953,799 - 31,986,960 (-)NCBI
Cytogenetic Map11p13NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBIHuRef
CHM1_11131,805,847 - 31,839,030 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences