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 |
|---|---|---|---|
| RS1032055611 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1057517745 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1085307913 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1176335599 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS1298896114 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS137853334 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS137853335 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS1555813319 | Health Risk | Pathogenic | Hyperinsulinism due to HNF4A deficiency, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |
| RS1555815158 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1555816615 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555816642 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1555816654 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS1555817851 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1568724014 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1 |
| RS1600731198 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS193922479 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Hyperinsulinemia, Maturity-onset diabetes of the young |
| RS193922480 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, HNF4A-related disorder |
| RS2063786151 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2063837029 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS2063839277 | Health Risk | Pathogenic | — |
| RS2146127847 | Health Risk | Pathogenic | Hyperinsulinism due to HNF1A deficiency, Hyperinsulinism due to HNF1A deficiency |
| RS2146127862 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1, Monogenic diabetes |
| RS2146411947 | Health Risk | Pathogenic | — |
| RS2146412136 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS2146417581 | Health Risk | Pathogenic | — |
| RS2515422575 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515643922 | Health Risk | Pathogenic | — |
| RS2515644041 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515650510 | Health Risk | Pathogenic | Monogenic diabetes, HNF4A-related disorder, Maturity-onset diabetes of the young |
| RS2515651025 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |
| RS2515675063 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515675708 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515692811 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young type 1 |
| RS2515713794 | Health Risk | Pathogenic | — |
| RS2515713821 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2515714538 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2515728402 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1 |
| RS370239205 | Health Risk | Pathogenic | Monogenic diabetes, HNF4A-related disorder, Monogenic diabetes |
| RS377476335 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young |
| RS587777732 | Health Risk | Pathogenic | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Hyperinsulinemia, Maturity-onset diabetes of the young type 1 |
| RS771156648 | Health Risk | Pathogenic | Familial hyperinsulinism, Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus |
| RS776489992 | Health Risk | Pathogenic | Hyperinsulinism due to HNF4A deficiency, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Type 2 diabetes mellitus |
| RS781364316 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS1600707958 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1600710669 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2063787705 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1568741207 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS202105574 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2063407237 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young type 1, Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS2063496235 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |