Gene table of PDX1 : pancreatic and duodenal homeobox 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PDX1	OMIM link	Number of associated genes	genes
606392	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PDX1
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	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
PS260370	PANCREATIC AGENESIS	ClinVar, OMIM	link to OMIM	2	PTF1A, PDX1

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Annotation of the gene PDX1

Associated genes in ENSEMBL

ENSG00000139515

Associated proteins - SwissProt Accession ID

P52945

Associated PDB IDs

Cytogenetic Band

13q12.2

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
Insulin secretion	hsa04911	6.18
Type II diabetes mellitus	hsa04930	7.12
Maturity onset diabetes of the young	hsa04950	8.07

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Regulation of gene expression in early pancreatic precursor cells	R-HSA-210747	9.98
Regulation of gene expression in beta cells	R-HSA-210745	8.66
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
core promoter proximal region DNA binding	GO:0001159	3.82
macromolecular complex binding	GO:0044877	2.61
nucleic acid binding transcription factor activity	GO:0001071	2.65
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
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
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
protein complex binding	GO:0032403	3.09
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
protein dimerization activity	GO:0046983	2.72
transcription regulatory region DNA binding	GO:0044212	3.03
protein heterodimerization activity	GO:0046982	3.64
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
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
chromatin binding	GO:0003682	3.64
binding	GO:0005488	0.18