HNF4A gene

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:

Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-ARNTL/BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698).

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 44,355,699 to 44,434,596 on chromosome 20 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (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