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 |
|---|---|---|---|
| RS1229650809 | Health Risk | Likely pathogenic | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1236613475 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1 |
| RS1290868034 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Monogenic diabetes |
| RS1375557127 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, HNF4A-related disorder |
| RS137853336 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Type 2 diabetes mellitus |
| RS137853338 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS1385142974 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS1392795567 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1404334125 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS1463516865 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS1555813267 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1555813342 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1555815393 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1555815396 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1568731279 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young |
| RS1568741527 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922471 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS193922474 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS193922475 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS193922476 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2063517684 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2146126966 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, HNF4A-related disorder |
| RS2146127577 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS2146127594 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS2146368271 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS2146375350 | Health Risk | Likely pathogenic | — |
| RS2146438052 | Health Risk | Likely pathogenic | — |
| RS2146467548 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS2515422927 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS2515644510 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515644908 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2515650628 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2515651269 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515651295 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515679217 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515679716 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS2515679836 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515680075 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515680101 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1, Monogenic diabetes |
| RS2515699364 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS2515699379 | Health Risk | Likely pathogenic | — |
| RS2515714792 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS369429452 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS376013528 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus |
| RS757731931 | Health Risk | Likely pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS768043933 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS769007443 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus |
| RS777290134 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS920346355 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1385251852 | Health Risk | Likely pathogenic/Likely risk allele | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1 |