Harmonizome 3.0

paired box 6

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]

From ChEA Transcription Factor Targets

target genes of the PAX6 transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term pax6 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From JASPAR Predicted Transcription Factor Targets

target genes of the PAX6 transcription factor predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for PAX6 from the Pathway Commons Protein-Protein Interactions dataset.

From JASPAR Predicted Human Transcription Factor Targets 2025

target genes of the PAX6 transcription factor predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the PAX6 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the PAX6-23342162-BETA-FORBRAIN-LENS-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

From CORUM Protein Complexes

proteins in the PAX6-SOX2 DNA-protein complex protein complex from the CORUM Protein Complexes dataset.

From ChEA Transcription Factor Targets 2022

target genes of the PAX6-23342162-BETA-FORBRAIN-LENS-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Motor Cortex - Cluster - PAX6+ CHRFAM7A+ Layer 1 GABAergic neuron cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Motor Cortex - Cluster - PAX6+ MIR101-1+ Layer 1 GABAergic neuron cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Motor Cortex - Cluster - PAX6+ FREM2+ Layer 2 GABAergic neuron cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Motor Cortex - Cluster - PAX6+ LINC01497+ Layer 3-6 GABAergic neuron cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Mouse - Motor Cortex - Cluster - Lamp5+ Pax6+ GABAergic neuron cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Brain_CT2_Inh L3-6 PAX6 LINC01497 cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Brain_CT2_Inh L1 PAX6 MIR101-1 cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Brain_CT2_Inh L1 PAX6 CHRFAM7A cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Annotations

biomarker genes for the Brain_CT2_Inh L2 PAX6 FREM2 cell type from the HuBMAP ASCT+B dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Brain_CT2_Inh L1 PAX6 CHRFAM7A cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Brain_CT2_Inh L1 PAX6 MIR101-1 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Brain_CT2_Inh L2 PAX6 FREM2 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Brain_CT2_Inh L3-6 PAX6 LINC01497 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PAX6-related ocular dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From Rummagene Transcription Factor Associations 2026

target genes of the PMC4467436-oncotarget-06-6267-s002.xlsx-140527_cd44Cutoff_txt-PAX6-M_PAX6 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.