PAX6 (paired box 6) - Rat Genome Database

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Gene: PAX6 (paired box 6) Homo sapiens
Symbol: PAX6
Name: paired box 6
RGD ID: 737459
HGNC Page HGNC:8620
Description: Enables DNA-binding transcription activator 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 macromolecule biosynthetic process. Located in cytosol and nucleoplasm. Part of chromatin. 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
Previously known as: alternative protein PAX6; AN; AN1; AN2; Aniridia 1; Aniridia 2; aniridia type II protein; ASGD5; D11S812E; FVH1; MGC17209; MGDA; oculorhombin; paired box 6 PAX6-12a isoform; paired box 6 PAX6A-ASdel6 isoform; paired box 6 PAX6A-ASdel6-AS7 isoform; paired box 6 PAX6A-del6 isoform; paired box 6 PAX6B-ASdel6 isoform; paired box 6 PAX6D isoform; paired box homeotic gene-6; paired box protein Pax-6; WAGR
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381131,789,026 - 31,817,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1131,784,779 - 31,817,961 (-)EnsemblGRCh38hg38GRCh38
GRCh371131,810,574 - 31,839,509 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361131,767,034 - 31,789,455 (-)NCBINCBI36Build 36hg18NCBI36
Build 341131,768,057 - 31,789,341NCBI
Celera1131,953,799 - 31,986,960 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1131,501,758 - 31,535,259 (-)NCBIHuRef
CHM1_11131,805,847 - 31,839,030 (-)NCBICHM1_1
T2T-CHM13v2.01131,924,847 - 31,953,767 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)