Aliases for HNF4A Gene
External Ids for HNF4A Gene
Previous HGNC Symbols for HNF4A Gene
Previous GeneCards Identifiers for HNF4A 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]
GeneCards Summary for HNF4A Gene
HNF4A (Hepatocyte Nuclear Factor 4 Alpha) is a Protein Coding gene. Diseases associated with HNF4A include Mody, Type I and Fanconi Renotubular Syndrome 4, With Maturity-Onset Diabetes Of The Young. Among its related pathways are Regulation of nuclear SMAD2/3 signaling and Regulation of beta-cell development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is HNF4G.
UniProtKB/Swiss-Prot for HNF4A Gene
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.