OSBPL5 |
- 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)