Aliases for SREBF2 Gene
External Ids for SREBF2 Gene
Previous GeneCards Identifiers for SREBF2 Gene
This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for SREBF2 Gene
SREBF2 (Sterol Regulatory Element Binding Transcription Factor 2) is a Protein Coding gene. Diseases associated with SREBF2 include Homozygous Familial Hypercholesterolemia and Avascular Necrosis Of The Femoral Head. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Chks in Checkpoint Regulation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is SREBF1.
UniProtKB/Swiss-Prot for SREBF2 Gene
Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5-ATCACCCCAC-3) found in the flanking region of the LDRL and HMG-CoA synthase genes.