OSBPL2 (Oxysterol Binding Protein Like 2)
A lipid-binding protein implicated in hearing loss and cellular sterol homeostasis.
Gene Information Card
| Symbol | OSBPL2 |
|---|---|
| Full Name | Oxysterol Binding Protein Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 9885 ncbi.nlm.nih.gov/gene/9885 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H1P3 |
| OMIM ID | 606731 |
| HGNC ID | 16396 |
| Aliases | ORP2, OSBP-related protein 2, MGC117215 |
Description
OSBPL2 encodes oxysterol-binding protein-like 2 (ORP2), a member of the oxysterol-binding protein (OSBP) family. ORP2 is involved in intracellular lipid transport, sterol homeostasis, and signaling. It binds oxysterols and phosphoinositides, and localizes to the endoplasmic reticulum, Golgi, and plasma membrane contact sites. Mutations in OSBPL2 cause autosomal dominant non-syndromic hearing loss (DFNA67).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant deafness 67 (DFNA67) | Loss-of-function mutations in OSBPL2 disrupt sterol transport and membrane dynamics in cochlear hair cells, leading to progressive hearing loss. | OMIM #616719; multiple family studies (Xing et al., 2014; Thoenes et al., 2015) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Cochlea | 4.8 | Low |
| Testis | 3.9 | Low |
| Kidney | 3.5 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.0 | Moderate expression |
| HeLa | 4.5 | Low expression |
| SH-SY5Y | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>T (p.Glu42*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.349C>T (p.Arg117*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.544_545del (p.Leu182Glufs*3) | Frameshift | Rare | Frameshift; loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in OSBPL2 lead to truncated or absent ORP2 protein, impairing sterol transport and causing autosomal dominant deafness-67.
Gain of Function (GOF)
No gain-of-function mutations reported for OSBPL2.
Dominant Negative (DN)
Haploinsufficiency is the proposed mechanism; dominant-negative effects have not been demonstrated.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • sterol binding |
| • oxysterol binding | • intracellular cholesterol transport |
| • Golgi organization | • endoplasmic reticulum-plasma membrane contact site |
Pathways
• Oxysterol binding protein (OSBP) family pathway
• Sterol regulatory element-binding protein (SREBP) signaling
Protein Summary
ORP2 is a 480-amino acid protein containing an N-terminal pleckstrin homology (PH) domain and a C-terminal OSBP-related ligand-binding domain (ORD). It binds oxysterols (e.g., 25-hydroxycholesterol) and phosphatidylinositol 4,5-bisphosphate (PIP2), facilitating lipid exchange at membrane contact sites. ORP2 regulates cellular cholesterol distribution and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL2 Knockout HEK293 Cell Line | EDJ-KQ6799 | Human | 9885 | Details Get a Quote |
| OSBPL2 Knockout A-549 Cell Line | EDJ-KQ31291 | Human | 9885 | Details Get a Quote |
| OSBPL2 Knockout HCT 116 Cell Line | EDJ-KQ31292 | Human | 9885 | Details Get a Quote |
| OSBPL2 Knockout HeLa Cell Line | EDJ-KQ31293 | Human | 9885 | Details Get a Quote |
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