Gene table of HNF1A : HNF1 homeobox A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HNF1A	OMIM link	Number of associated genes	genes
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT	ClinVar, 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
222100	DIABETES MELLITUS, INSULIN-DEPENDENT	ClinVar, OMIM	link to OMIM	5	FOXP3, HNF1A, OAS1, ITPR3, PTPN22
600496	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	HNF1A
144700	RENAL CELL CARCINOMA, NONPAPILLARY	OMIM	link to OMIM	7	VHL, DIRC2, RNF139, HNF1A, OGG1, HNF1B, FLCN
142330	HEPATIC ADENOMAS, FAMILIAL	ClinVar, OMIM	link to OMIM	1	HNF1A
612520	DIABETES MELLITUS, INSULIN-DEPENDENT, 20	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	HNF1A

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Annotation of the gene HNF1A

Associated genes in ENSEMBL

ENSG00000135100

Associated proteins - SwissProt Accession ID

P20823

Associated PDB IDs

Cytogenetic Band

12q24.31

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
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
binding	GO:0005488	0.18
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
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
double-stranded DNA binding	GO:0003690	3.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
transcription regulatory region DNA binding	GO:0044212	3.03
protein heterodimerization activity	GO:0046982	3.64
transcription cofactor binding	GO:0001221	6.52
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
protein dimerization activity	GO:0046983	2.72
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29