HNF4A

hepatocyte nuclear factor 4 alpha

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
  • Diabetes mellitus type 2
  • Maturity-onset diabetes of the young, type 1

From UniProt:

Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4): A disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. [MIM:616026]

Diabetes mellitus, non-insulin-dependent (NIDDM): A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [MIM:125853]

Maturity-onset diabetes of the young 1 (MODY1): A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. [MIM:125850]

Cytogenetic Location: 20q13.12, which is the long (q) arm of chromosome 20 at position 13.12

Molecular Location: base pairs 44,355,801 to 44,432,845 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.12, which is the long (q) arm of chromosome 20 at position 13.12
  • FRTS4
  • HNF4
  • HNF4a7
  • HNF4a8
  • HNF4a9
  • HNF4alpha
  • MODY
  • MODY1
  • NR2A1
  • NR2A21
  • TCF
  • TCF14