PAX6

Also known as AN, AN2, D11S812E, FVH1, MGDA, WAGR, paired box 6, ASGD5

Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene.

Gene data

PAX6

Name: paired box 6
Type: protein-coding
Position: 31,784,779–31,817,961 (−)
Aliases: AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
Ensembl: ENSG00000007372
RefSeq RNA: NM_000280.6, NM_001127612.3, NM_001258462.3, NM_001258463.2, NM_001258464.2
RefSeq protein: NP_000271.1, NP_001121084.1, NP_001245391.1, NP_001245392.1, NP_001245393.1

This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene 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 results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019].

Gene Ontology

Biological process

negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II blood vessel development eye development type B pancreatic cell differentiation pancreatic A cell development pancreatic A cell development chromatin remodeling

Molecular function

transcription cis-regulatory region binding transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific

Cellular component

chromatin chromatin chromatin nucleus nucleus nucleus nucleoplasm cytoplasm

Pathways

Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human)Maturity onset diabetes of the young - Homo sapiens (human)Developmental Biology Regulation of beta-cell development Regulation of gene expression in beta cells Peptide hormone metabolism Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)Metabolism of proteins Incretin synthesis, secretion, and inactivation Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

via MyGene.info

Wikidata facts

Image: Protein PAX6 PDB 2cue.png

Show 6 more facts

HomoloGene ID: 1212
exact match: identifiers.org/ncbigene/5080
genomic end: 31818062
genomic start: 31784779
cytogenetic location: 11p13
Commons category: Pax-6

Sources (6)

via Wikidata · CC0

~10 min read

Article

11 sections

Contents

Function
Role in human fetal development
References for Role in Human Fetal Development
Species distribution
Isoforms
Clinical significance
Mutations
See also
References
Further reading
External links

Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded by the PAX6 gene.

== Function == PAX6 is a member of the Pax gene family which is responsible for carrying the genetic information that will encode the Pax-6 protein. It acts as a "master control" gene for the development of eyes and other sensory organs, certain neural and epidermal tissues as well as other homologous structures, usually derived from ectodermal tissues. However, it has been recognized that a suite of genes is necessary for eye development, and therefore the term of "master control" gene may be inaccurate. Pax-6 is expressed as a transcription factor when neural ectoderm receives a combination of weak Sonic hedgehog (SHH) and strong TGF-Beta signaling gradients. Expression is first seen in the forebrain, hindbrain, head ectoderm and spinal cord followed by later expression in midbrain. This transcription factor is most noted for its use in the interspecifically induced expression of ectopic eyes and is of medical importance because heterozygous mutants produce a wide spectrum of ocular defects such as aniridia in humans.