• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
OSBPL5 (HGNC:16392) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
oxysterol binding protein like 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA1534, ORP5, OBPH1
%HI
75.98(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.56(Read more about gnomAD LOEUF score)
Cytoband
11p15.4
Genomic Coordinates
GRCh37/hg19: chr11:3108337-3186540 NCBI Ensembl UCSC
GRCh38/hg38: chr11:3087107-3165310 NCBI Ensembl UCSC
MANE Select Transcript
NM_020896.4 ENST00000263650.12 (Read more about MANE Select)
Function
Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:23934110, PubMed:26206935). May cooperate with NPC1 to mediate the exit o... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24218
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
No evidence was found to suggest that loss of function of OSBPL5 results in a specific phenotype. One study has shown that this gene is imprinted in the placenta of both mice and humans, but not other tissues (PMID:12504849), while another counters that it is not imprinted in human trophoblast stem cells (PMID:20644730). Neither study proposed a specific human phenotype associated with changes in imprinting within this gene.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence was found to suggest that duplications of OSBPL5 result in a specific phenotype. One study has shown that this gene is imprinted in the placenta of both mice and humans, but not other tissues (PMID:12504849), while another counters that it is not imprinted in human trophoblast stem cells (PMID:20644730). Neither study proposed a specific human phenotype associated with changes in imprinting within this gene.

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)