SREBF2
This page contains an overview of the genetic variation in the SREBF2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
SREBF2 gene and transcript details
Gene Name
sterol regulatory element binding transcription factor 2
Gene Links
Ensembl: ENSG00000198911 -
Locus Reference Genomic:
Genomic Location
Chromosome 22 : 42,229,275 - 42,301,664 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3423 bases) | Protein (1141 aa) |
|---|---|---|
 |
ENST00000361204 | ENSP00000354476 |
 |
||
 |
NM_004599.2 | |
 |
Q12772 |
Summary of SREBF2 in Cardiomyopathies
SREBF2 variants in ExAC
Details of the protein-altering SREBF2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 464 | 0.00797 |
| Truncating | 6 | 0.00007 |
| Missense | 403 | 0.00701 |
| Inframe | 15 | 0.00022 |
| Splice Site | 40 | 0.00069 |