SREBF2

Chr 22q13.2

sterol regulatory element binding transcription factor 2

Aliases:: SREBP2, bHLHd2
MANE:: ENST00000361204.9

OMIM: 600481 ↗NCBI: 6721 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SREBF2 · Q12772

v62025-08-01

Predicted Aligned Error matrix for SREBF2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.9/ 100

Low

1,141 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)40%
Low(50–70)10%
Very low(< 50)41%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bilateral congenital or childhood onset cataracts
Familial hypercholesterolaemia
Unknown
Intellectual disability

Disease associations (Open Targets)

neurodegenerative disease
0.46
infectious disease
0.15
Hypercholesterolemia
0.12
hepatocellular carcinoma
0.11
colorectal carcinoma
0.10
neoplasm
0.10
esophageal squamous cell carcinoma
0.09
posterior cortical atrophy
0.09
early-onset non-syndromic cataract
0.09
central nervous system cancer
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sterol regulatory element-binding protein 2

Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 2), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis (PubMed:32322062)