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 |
|---|---|---|---|
| RS1019496764 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS1019701119 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS1031904976 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS1045382698 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS113308087 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Type 2 diabetes mellitus |
| RS11574743 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS11574745 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS1192263020 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS1277613130 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS1341485123 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS1413742263 | Health Risk | 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 |
| RS141448616 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS142204928 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Type 2 diabetes mellitus |
| RS142883089 | Health Risk | Conflicting classifications of pathogenicity | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus |
| RS145280017 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS145360792 | Health Risk | 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 |
| RS146751799 | Health Risk | Conflicting classifications of pathogenicity | Type 2 diabetes mellitus, Maturity-onset diabetes of the young, Type 2 diabetes mellitus |
| RS1469544671 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS148871044 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS150776703 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS1555817727 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Monogenic diabetes |
| RS1763003018 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS182919150 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS182980547 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young type 1 |
| RS184217112 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Type 2 diabetes mellitus, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young |
| RS187923731 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS193922473 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS200905283 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young |
| RS201319115 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS201330472 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS201749293 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201777208 | 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 |
| RS2063876979 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS2146375487 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2146438016 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS2146468685 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS367907885 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS369182343 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1 |
| RS370794722 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS372596032 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS372639360 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS373068234 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS373143621 | Health Risk | 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 |
| RS3746574 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS376287515 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS376586083 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 1 |
| RS377144780 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS3834658 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS41282026 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS533361991 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |