OSBPL2 |
Gene Facts External Data Attribution
- HGNC Symbol
- OSBPL2 (HGNC:15761) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- oxysterol binding protein like 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA0772, ORP-2, DFNA67
- %HI
- 69.32(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.13(Read more about gnomAD pLI score)
- LOEUF
- 0.48(Read more about gnomAD LOEUF score)
- Cytoband
- 20q13.33
- Genomic Coordinates
-
GRCh37/hg19: chr20:60813577-60871239 NCBI Ensembl UCSC GRCh38/hg38: chr20:62238521-62296183 NCBI Ensembl UCSC - MANE Select Transcript
- NM_144498.4 ENST00000313733.9 (Read more about MANE Select)
- Function
- Intracellular transport protein that binds sterols and phospholipids and mediates lipid transport between intracellular compartments. Increases plasma membrane cholesterol levels and decreases phosphatidylinositol-4,5-bisphosphate levels in the cell membrane (PubMed:30581148). Binds phosphoinositides, such as phosphatidylinositol-4,5-bisphosphate (PubMed:30581148). Exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds cholester... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22155
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000020.10)
(NC_000020.11)