OSBPL2

Chr 20q13.33

oxysterol binding protein like 2

Aliases:: KIAA0772, ORP-2, DFNA67
MANE:: ENST00000313733.9

OMIM: 606731 ↗NCBI: 9885 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

OSBPL2 · Q9H1P3

v62025-08-01

Predicted Aligned Error matrix for OSBPL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.2/ 100

Confident

480 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)14%
Low(50–70)4%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

autosomal dominant nonsyndromic hearing loss
0.64
deafness
0.52
neurodegenerative disease
0.48
bipolar disorder
0.23
Non-syndromic genetic deafness
0.20
hereditary disease
0.19
multiple sclerosis
0.19
lysosomal storage disease
0.19
Alzheimer disease
0.19
Parkinson disease
0.19

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

Protein function (UniProt)

Oxysterol-binding protein-related protein 2

Intracellular transport protein that binds sterols and phospholipids and mediates lipid transport between intracellular compartments (PubMed:30581148, PubMed:32914503). Increases plasma membrane cholesterol levels and decreases phosphatidylinositol-4,5-bisphosphate levels in the cell membrane (PubMed:30581148, PubMed:32914503, PubMed:34124795). Exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds cholesterol, dehydroergosterol, 22(R)-hydroxycholesterol and 25-hydroxycholesterol (in vitro) (PubMed:17428193, PubMed:19224871, PubMed:30581148). In conjunction with PLCB3, it may contribute to the control of keratinocyte proliferation and differentiation, probably through the regulation of the ERK pathway and the cell cycle (PubMed:38701954). Involved in angiogenic signaling pathways such as VEGFR2 in endothelial cells (PubMed:32914503). Controls LDL-cholesterol plasma membrane delivery, focal adhesion kinase (FAK) activation and PI(4,5)P2 generation, enhancing cell adhesion (PubMed:34124795)