OSBPL8

oxysterol binding protein like 8, the group of Pleckstrin homology domain containing|Oxysterol binding proteins

Basic information

Region (hg38): 12:76351797-76559809

Links

ENSG00000091039 ∙ NCBI:114882 ∙ OMIM:606736 ∙ HGNC:16396 ∙ Uniprot:Q9BZF1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OSBPL8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSBPL8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	0	0

Variants in OSBPL8

This is a list of pathogenic ClinVar variants found in the OSBPL8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-76355921-G-A		not specified	Uncertain significance (Mar 18, 2024)
12-76356720-C-T		not specified	Uncertain significance (Dec 27, 2023)
12-76369224-C-A		not specified	Uncertain significance (Aug 11, 2022)
12-76369224-C-T		not specified	Uncertain significance (Jan 19, 2024)
12-76369225-G-A		not specified	Uncertain significance (Apr 11, 2023)
12-76369236-T-C		not specified	Uncertain significance (Dec 16, 2023)
12-76369265-C-A		not specified	Uncertain significance (Apr 06, 2024)
12-76369279-T-G		not specified	Uncertain significance (Jan 03, 2024)
12-76369718-C-T		not specified	Uncertain significance (Mar 11, 2022)
12-76369725-T-C		not specified	Uncertain significance (Jun 30, 2022)
12-76371520-G-A		not specified	Uncertain significance (Dec 30, 2023)
12-76386190-T-A		not specified	Uncertain significance (Mar 21, 2022)
12-76386628-A-G		not specified	Uncertain significance (Nov 07, 2022)
12-76390449-T-C		not specified	Uncertain significance (Nov 06, 2023)
12-76390494-A-G		not specified	Uncertain significance (Oct 12, 2021)
12-76390616-T-C		not specified	Uncertain significance (Dec 20, 2021)
12-76390652-T-C		not specified	Uncertain significance (Aug 12, 2021)
12-76392583-G-C		not specified	Uncertain significance (Apr 26, 2023)
12-76394663-C-T		not specified	Uncertain significance (Jan 04, 2022)
12-76394680-C-T		not specified	Uncertain significance (May 05, 2022)
12-76397717-C-T		not specified	Uncertain significance (Sep 14, 2022)
12-76399974-C-T		not specified	Uncertain significance (Mar 01, 2024)
12-76402708-G-C		not specified	Uncertain significance (Feb 27, 2024)
12-76410574-G-A		not specified	Uncertain significance (Jun 13, 2023)
12-76410611-T-C		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OSBPL8	protein_coding	protein_coding	ENST00000261183	23	208013

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0105	0.989	125704	0	41	125745	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.00	278	459	0.606	0.0000234	5845
Missense in Polyphen		75	185.12	0.40514		2331
Synonymous	0.400	144	150	0.959	0.00000743	1591
Loss of Function	5.04	15	55.5	0.270	0.00000295	686

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000238	0.000238
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.000141	0.000139
European (Non-Finnish)	0.0000979	0.0000967
Middle Eastern	0.000111	0.000109
South Asian	0.000606	0.000588
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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:26206935). Binds oxysterol, 25- hydroxycholesterol and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267). {ECO:0000269|PubMed:17428193, ECO:0000269|PubMed:17991739, ECO:0000269|PubMed:21698267, ECO:0000269|PubMed:26206935}.
• Pathway: Metabolism of lipids;Metabolism;Acyl chain remodelling of PS;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.560
• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.56

Haploinsufficiency Scores

• pHI: 0.773
• hipred: Y
• hipred_score: 0.639
• ghis: 0.605

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.860

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Osbpl8
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: negative regulation of sequestering of triglyceride;phospholipid transport;sterol transport;negative regulation of cell migration;activation of protein kinase B activity;phosphatidylserine acyl-chain remodeling;fat cell differentiation;positive regulation of glucose import;positive regulation of insulin receptor signaling pathway;positive regulation of protein kinase B signaling;protein localization to nuclear pore
• Cellular component: endoplasmic reticulum membrane;cytosol;membrane;integral component of membrane;nuclear membrane;intracellular membrane-bounded organelle
• Molecular function: phosphatidylserine binding;phospholipid transporter activity;lipid binding;sterol transporter activity;cholesterol binding;sterol binding;phosphatidylinositol-4-phosphate binding