SREBF2 sterol regulatory element binding transcription factor 2
Gene ID: 6721, updated on 10-Oct-2024Gene type: protein coding
Also known as: SREBP2; bHLHd2; SREBP-2
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- Go to complete Gene record for SREBF2
- Go to Variation Viewer for SREBF2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available |
Genomic context
- Location:
- 22q13.2
- Sequence:
- Chromosome: 22; NC_000022.11 (41833105..41907305)
- Total number of exons:
- 24
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for SREBF2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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