OSBPL7 (Oxysterol Binding Protein Like 7)
A member of the oxysterol-binding protein family involved in lipid transport and signaling.
Gene Information Card
| Symbol | OSBPL7 |
|---|---|
| Full Name | Oxysterol Binding Protein Like 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 114881 ncbi.nlm.nih.gov/gene/114881 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q9BZF2 |
| OMIM ID | 606737 |
| HGNC ID | 16396 |
| Aliases | ORP7, OSBP-related protein 7 |
Description
OSBPL7 encodes a member of the oxysterol-binding protein (OSBP) family, which is involved in lipid transport, sterol metabolism, and cellular signaling. The protein contains a pleckstrin homology (PH) domain and an OSBP-related ligand-binding domain, and it may play a role in cholesterol homeostasis and vesicle transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Kidney | 4.8 | Low |
| Brain | 3.1 | Low |
| Heart | 2.9 | Low |
| Lung | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
| A549 | 3.8 | Lung carcinoma cell line |
| HEK293 | 3.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • sterol binding |
| • oxysterol binding | • Golgi apparatus |
| • cytoplasm |
Pathways
• Oxysterol binding protein family pathway
Protein Summary
OSBPL7 is a 780-amino acid protein that localizes to the Golgi apparatus and cytoplasm. It binds oxysterols and may regulate lipid trafficking and signaling. The protein is widely expressed at low levels in human tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL7 Knockout HEK293 Cell Line | EDJ-KQ7487 | Human | 114881 | Details Get a Quote |
| OSBPL7 Knockout A-549 Cell Line | EDJ-KQ32727 | Human | 114881 | Details Get a Quote |
| OSBPL7 Knockout HCT 116 Cell Line | EDJ-KQ32728 | Human | 114881 | Details Get a Quote |
| OSBPL7 Knockout HeLa Cell Line | EDJ-KQ32729 | Human | 114881 | Details Get a Quote |
