Gene table of PAX6 : paired box 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PAX6	OMIM link	Number of associated genes	genes
106210	ANIRIDIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	PAX6, ELP4
120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	GDF3, YAP1, FIBP, PAX6
148190	KERATITIS, HEREDITARY	OMIM	link to OMIM	1	PAX6
120430	COLOBOMA OF OPTIC NERVE	OMIM, HUMSAVAR	link to OMIM	1	PAX6
PS136520	FOVEAL HYPOPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SLC38A8, PAX6
206700	GILLESPIE SYNDROME	ClinVar, OMIM	link to OMIM	1	PAX6
165550	OPTIC NERVE HYPOPLASIA, BILATERAL	OMIM, HUMSAVAR	link to OMIM	1	PAX6
604229	PETERS ANOMALY	OMIM, HUMSAVAR	link to OMIM	4	FOXC1, PITX2, CYP1B1, PAX6

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Annotation of the gene PAX6

Associated genes in ENSEMBL

ENSG00000007372

Associated proteins - SwissProt Accession ID

P26367

Associated PDB IDs

Cytogenetic Band

11p13

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Signaling pathways regulating pluripotency of stem cells	hsa04550	5.6
Maturity onset diabetes of the young	hsa04950	8.07

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)	R-HSA-381771	8.66
Regulation of beta-cell development	R-HSA-186712	7.98
Peptide hormone metabolism	R-HSA-2980736	6.61
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)	R-HSA-400511	9.28
Regulation of gene expression in beta cells	R-HSA-210745	8.66
Metabolism of proteins	R-HSA-392499	3.41
Incretin synthesis, secretion, and inactivation	R-HSA-400508	8.46
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
protein kinase binding	GO:0019901	3.44
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
enzyme binding	GO:0019899	2.27
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
ubiquitin-like protein transferase activity	GO:0019787	3.69
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
HMG box domain binding	GO:0071837	6.85
transferase activity	GO:0016740	1.95
R-SMAD binding	GO:0070412	6.65
co-SMAD binding	GO:0070410	7.25
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
core promoter proximal region DNA binding	GO:0001159	3.82
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
histone acetyltransferase binding	GO:0035035	6.41
SMAD binding	GO:0046332	5.45
kinase binding	GO:0019900	3.32
protein domain specific binding	GO:0019904	3.32
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
ubiquitin-protein transferase activity	GO:0004842	3.73
transcription regulatory region DNA binding	GO:0044212	3.03
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001227	4.61
ubiquitin protein ligase binding	GO:0031625	4.17
catalytic activity	GO:0003824	1.05
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65