HNF4A Chromosome 20
Hepatocyte nuclear factor 4 alpha
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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 |
|---|---|---|---|
| RS2063851984 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS780342162 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young |
| RS879092890 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young |