HNF4A Chromosome 20
Hepatocyte nuclear factor 4 alpha
Upload your DNA to see your personal genotypes for variants in HNF4A.
What This Gene Does
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Hepatocyte nuclear factor 4 family"
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000101076
Associated Conditions (12)
Maturity-onset diabetes of the young type 1
Familial hyperinsulinism
Maturity-onset diabetes of the young
Type 2 diabetes mellitus
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
HNF4A-related disorder
Monogenic diabetes
Autosomal dominant polycystic liver disease
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinemia
Hyperinsulinism due to HNF1A deficiency
Maturity-onset diabetes of the young type 3
Key Variants
RS1019496764
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young
Health Risk
RS1019701119
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young
Health Risk
RS1031904976
Conflicting classifications of pathogenicity
Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
Health Risk
RS1045382698
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young
Health Risk
RS113308087
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Type 2 diabetes mellitus
Health Risk
RS11574743
Conflicting classifications of pathogenicity
Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
Health Risk
RS11574745
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young
Health Risk
RS1192263020
Conflicting classifications of pathogenicity
Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
Health Risk
RS1277613130
Conflicting classifications of pathogenicity
Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
Health Risk
RS1341485123
Conflicting classifications of pathogenicity
Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
Health Risk
RS1413742263
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 1, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Health Risk
RS141448616
Conflicting classifications of pathogenicity
Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
Health Risk
All Variants (203)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS537336047 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS537782818 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS540463510 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS546761850 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS548013860 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS551080524 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS561302824 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS564110189 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS566155738 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS568456380 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS569302875 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS573432571 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS74173201 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS748714111 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Type 2 diabetes mellitus |
| RS751231466 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Type 2 diabetes mellitus |
| RS753675648 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS753843962 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS755438203 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS757386171 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS758836138 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS759084238 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS759101859 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS759324522 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS760628227 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS761017274 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS763529905 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764196059 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young |
| RS767537996 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS769165584 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS770250175 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS772786482 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773868595 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS886056680 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS886056681 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS886056682 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS886056683 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS886056684 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS886056685 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS886056686 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS886056687 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS886056688 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS886056690 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS886056702 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS886056703 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS886056704 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS940169046 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS952494962 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS1057524790 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS1131692187 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1191912908 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, HNF4A-related disorder |