Identity
HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
DFNA67,DNFA67,ORP-2,ORP2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9885
MIM: 606731
HGNC: 15761
Ensembl: ENSG00000130703
Variants:
dbSNP: 9885
ClinVar: 9885
TCGA: ENSG00000130703
COSMIC: OSBPL2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38701954 | 2024 | OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome. | 0 |
| 38701954 | 2024 | OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome. | 0 |
| 33854310 | 2021 | Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis. | 8 |
| 34124795 | 2021 | ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P(2) exchange. | 20 |
| 33854310 | 2021 | Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis. | 8 |
| 34124795 | 2021 | ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P(2) exchange. | 20 |
| 31629475 | 2020 | Comparative transcriptome analysis of auditory OC-1 cells and zebrafish inner ear tissues in the absence of human OSBPL2 orthologues. | 5 |
| 32914503 | 2020 | ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells. | 8 |
| 31629475 | 2020 | Comparative transcriptome analysis of auditory OC-1 cells and zebrafish inner ear tissues in the absence of human OSBPL2 orthologues. | 5 |
| 32914503 | 2020 | ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells. | 8 |
| 30391516 | 2019 | 25-hydroxycholesterol down-regulates oxysterol binding protein like 2 (OSBPL2) via the p53/SREBF2/NFYA signaling pathway. | 5 |
| 30581148 | 2019 | ORP2 Delivers Cholesterol to the Plasma Membrane in Exchange for Phosphatidylinositol 4, 5-Bisphosphate (PI(4,5)P(2)). | 68 |
| 30590084 | 2019 | ORP2 interacts with phosphoinositides and controls the subcellular distribution of cholesterol. | 18 |
| 30894143 | 2019 | A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family. | 7 |
| 31356817 | 2019 | OSBPL2 deficiency upregulate SQLE expression increasing intracellular cholesterol and cholesteryl ester by AMPK/SP1 and SREBF2 signalling pathway. | 16 |
Citation
Dessen P
OSBPL2 (oxysterol binding protein like 2)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57733/osbpl2-(oxysterol-binding-protein-like-2)
