HNF1A (HNF1 homeobox A)

2003-02-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
HNF-1A,HNF1,HNF1alpha,HNF4A,IDDM20,LFB1,MODY3,TCF-1,TCF1
FUSION GENES

Other Information

Locus ID:

NCBI: 6927
MIM: 142410
HGNC: 11621
Ensembl: ENSG00000135100

Variants:

dbSNP: 6927
ClinVar: 6927
TCGA: ENSG00000135100
COSMIC: HNF1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135100ENST00000257555A0A0A0MQU7
ENSG00000135100ENST00000400024U3KQS6
ENSG00000135100ENST00000538646P20823
ENSG00000135100ENST00000540108P20823
ENSG00000135100ENST00000541395A0A0A0MTK8
ENSG00000135100ENST00000541924P20823
ENSG00000135100ENST00000543427E0YMI9
ENSG00000135100ENST00000544413F5H0K0
ENSG00000135100ENST00000544574F5H3Z5
ENSG00000135100ENST00000560968H0YND5
ENSG00000135100ENST00000615446E0YMJ1
ENSG00000135100ENST00000617366A0A087WYP0

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Maturity onset diabetes of the youngKEGGko04950
Maturity onset diabetes of the youngKEGGhsa04950
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in beta cellsREACTOMER-HSA-210745

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA24684AKT1GenePathwayassociated
PA452618opioidsChemicalMultilinkAnnotationassociated26233334

References

Pubmed IDYearTitleCitations
205818272010Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.787
190609062009Common variants at 30 loci contribute to polygenic dyslipidemia.552
149885622004Control of pancreas and liver gene expression by HNF transcription factors.475
184330212008MicroRNA profiling in hepatocellular tumors is associated with clinical features and oncogene/tumor suppressor gene mutations.245
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
195674382009Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.180
191986122009New susceptibility locus for coronary artery disease on chromosome 3q22.3.169
191986122009New susceptibility locus for coronary artery disease on chromosome 3q22.3.169
189403122008Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.150
184395482008Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.131

Citation

Dessen P

HNF1A (HNF1 homeobox A)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/470/hnf1a