OSBPL6
Oxysterol Binding Protein Like 6
Gene Information Card
| Symbol | OSBPL6 |
|---|---|
| Full Name | Oxysterol Binding Protein Like 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 114880 ncbi.nlm.nih.gov/gene/114880 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q9BZF3 |
| OMIM ID | 606739 |
| HGNC ID | 16396 |
| Aliases | ORP6, OSBP-related protein 6 |
Description
OSBPL6 encodes a member of the oxysterol-binding protein (OSBP) family, which are intracellular lipid receptors involved in sterol transport and signaling. The protein contains an N-terminal pleckstrin homology (PH) domain and a C-terminal OSBP-like sterol-binding domain. It may play a role in lipid homeostasis and vesicle trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Potential role in neuronal lipid metabolism; variants reported in neurodevelopmental cohorts | ClinVar |
| Autism spectrum disorder | Rare missense variants identified in ASD exome studies | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 4.5 | Neuronal cell line |
| HEK 293 | 2.8 | Embryonic kidney |
| HepG2 | 1.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.567G>A (p.Val189Ile) | Missense | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No known dominant-negative alleles.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • sterol binding |
| • oxysterol binding | • Golgi apparatus |
| • endoplasmic reticulum | • cytosol |
Pathways
• Oxysterol binding protein family pathway
• Lipid transport and metabolism
Protein Summary
OSBPL6 (ORP6) is a 873-amino acid protein that localizes to the Golgi and endoplasmic reticulum. It binds oxysterols and may facilitate non-vesicular sterol transport between membranes. The PH domain mediates phosphoinositide binding, while the OSBP domain interacts with sterols. Expression is highest in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSBPL6 Knockout HEK293 Cell Line | EDJ-KQ7486 | Human | 114880 | Details Get a Quote |
| OSBPL6 Knockout A-549 Cell Line | EDJ-KQ32724 | Human | 114880 | Details Get a Quote |
| OSBPL6 Knockout HCT 116 Cell Line | EDJ-KQ32725 | Human | 114880 | Details Get a Quote |
| OSBPL6 Knockout HeLa Cell Line | EDJ-KQ32726 | Human | 114880 | Details Get a Quote |
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