The HNF4A gene homepage

General information
Gene symbol HNF4A
Gene name hepatocyte nuclear factor 4, alpha
Chromosome 20
Chromosomal band q13.12
Imprinted Unknown
Genomic reference NG_009818.1
Transcript reference NM_000457.4, NM_175914.4
Exon/intron information NM_175914.4 exon/intron table
Associated with diseases FRTS-4, MODY-1, NIDDM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Monique Losekoot and Kevin Colclough
Total number of public variants reported 2277
Unique public DNA variants reported 210
Individuals with public variants 1219
Hidden variants 122
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 17, 2008
Date last updated September 15, 2020
Version HNF4A:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_175914.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/HNF4A
External URL Orphanet
Diabetes genes
HGNC 5024
Entrez Gene 3172
PubMed articles HNF4A
OMIM - Gene 600281
OMIM - Diseases FRTS-4 (Fanconi renotubular syndrome, type 4 (FRTS-4, with maturity-onset diabetes of the young))
MODY-1 (diabetes of the young, maturity-onset, type 1 (MODY-1))
NIDDM (diabetes mellitus, noninsulin-dependent (NIDDM))
HGMD HNF4A
GeneCards HNF4A
GeneTests HNF4A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025415 20 transcript variant 4 NM_175914.4 NP_787110.2 2277
00009499 20 transcript variant 2 NM_000457.4 NP_000448.3 2164


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2008-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.