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, T2D
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 211
Individuals with public variants 1219
Hidden variants 126
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 October 25, 2021
Version HNF4A:211025

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
External URL 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))
T2D (diabetes mellitus, type 2, susceptibility to (T2D))
GeneCards HNF4A
GeneTests HNF4A
Orphanet HNF4A

Active transcripts




NCBI ID     

NCBI Protein ID     

00025415 20 transcript variant 4 NM_175914.4 NP_787110.2 2276
00009499 20 transcript variant 2 NM_000457.4 NP_000448.3 2164

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