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)