OSBPL9 (Oxysterol Binding Protein Like 9)
A member of the oxysterol-binding protein family involved in lipid transport and cellular signaling.
Gene Information Card
| Symbol | OSBPL9 |
|---|---|
| Full Name | Oxysterol Binding Protein Like 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 114880 ncbi.nlm.nih.gov/gene/114880 |
| Ensembl ID | ENSG00000130726 |
| UniProt ID | Q96SU4 |
| OMIM ID | 606739 |
| HGNC ID | 16396 |
| Aliases | ORP9, OSBP9, MGC138290 |
Description
OSBPL9 encodes a member of the oxysterol-binding protein (OSBP) family, which are involved in lipid transport, sterol metabolism, and signal transduction. The protein contains an N-terminal pleckstrin homology (PH) domain and a C-terminal OSBP-related ligand-binding domain (ORD). OSBPL9 is ubiquitously expressed and may play a role in vesicle trafficking and lipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 10.2 | Medium |
| Brain cortex | 8.5 | Medium |
| Liver | 12.1 | Medium |
| Lung | 9.8 | Medium |
| Skeletal muscle | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| HeLa | 11.2 | Medium expression |
| HepG2 | 13.0 | Medium expression |
| K562 | 9.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.567C>T (p.Arg189Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Oxysterol binding protein family pathway (Reactome: R-HSA-196854)
• Lipid transport (Reactome: R-HSA-382551)
Protein Summary
OSBPL9 is a 711-amino acid protein (UniProt Q96SU4) with a molecular mass of ~80 kDa. It contains an N-terminal PH domain that mediates membrane association and a C-terminal ORD domain that binds oxysterols and cholesterol. The protein localizes to the Golgi apparatus and cytoplasm, and is implicated in lipid transport and vesicle trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL9 Knockout HEK293 Cell Line | EDJ-KQ7484 | Human | 114883 | Details Get a Quote |
| OSBPL9 Knockout HeLa Cell Line | EDJ-KQ31369 | Human | 114883 | Details Get a Quote |
| OSBPL9 Knockout A-549 Cell Line | EDJ-KQ32722 | Human | 114883 | Details Get a Quote |
| OSBPL9 Knockout HCT 116 Cell Line | EDJ-KQ32723 | Human | 114883 | Details Get a Quote |
