Gene table of PAX4 : paired box 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PAX4	OMIM link	Number of associated genes	genes
612227	DIABETES MELLITUS, KETOSIS-PRONE	OMIM, HUMSAVAR	link to OMIM	1	PAX4
612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PAX4
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT	ClinVar, OMIM, HUMSAVAR	link to OMIM	33	SLC2A2, HNF4A, TCF7L2, SLC30A8, GPD2, PAX4, PTPN1, SLC2A4, ABCC8, HMGA1, LIPC, NEUROD1, CDKAL1, WFS1, PPARG, RETN, AKT2, IRS2, IL6, IRS1, GCGR, CAPN10, IGF2BP2, INSR, PDX1, MTNR1B, GCK, HNF1B, HNF1A, MAPK8IP1, ENPP1, PPP1R3A, KCNJ11

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Maturity onset diabetes of the young	hsa04950	8.07

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells	R-HSA-210746	10.66
Regulation of beta-cell development	R-HSA-186712	7.98
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
enhancer sequence-specific DNA binding	GO:0001158	5.36
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
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
double-stranded DNA binding	GO:0003690	3.09
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	5.58
regulatory region nucleic acid binding	GO:0001067	3.03
enhancer binding	GO:0035326	5.21
transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0001206	7.54
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
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
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
nucleic acid binding transcription factor activity	GO:0001071	2.65