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 FRTS4, MODY1, NIDDM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Kevin Colclough
Total number of public variants reported 2386
Unique public DNA variants reported 275
Individuals with public variants 1221
Hidden variants 58
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. We gratefully acknowledge the efforts of Monique Losekoot (Leiden, Nederland), acting as curator for this gene until 2017.
Date created January 17, 2008
Date last updated February 26, 2024
Version HNF4A:240226

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 Diabetes genes
HGNC 5024
Entrez Gene 3172
PubMed articles HNF4A
OMIM - Gene 600281
OMIM - Diseases FRTS4 (Fanconi renotubular syndrome, type 4 (FRTS-4, with maturity-onset diabetes of the young))
MODY1 (diabetes of the young, maturity-onset, type 1 (MODY-1))
NIDDM (diabetes mellitus, type II (NIDDM))
HGMD HNF4A
GeneCards HNF4A
GeneTests HNF4A
Orphanet HNF4A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025415 20 transcript variant 4 NM_175914.4 NP_787110.2 2384
00009499 20 transcript variant 2 NM_000457.4 NP_000448.3 2272


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2008-2024. 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.

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