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 Maturity-Onset Diabetes Of The Young, Type 1 and Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young. Among its related pathways are HIF1Alpha Pathway and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HNF4G.
UniProtKB/Swiss-Prot Summary for HNF4A Gene
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).