OSBPL8 (oxysterol binding protein like 8)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 114882 |
| Gene name | Oxysterol binding protein like 8 |
| Gene symbol | OSBPL8 |
| Synonyms (NCBI Gene) |
MST120MSTP120ORP8OSBP10
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| Chromosome | 12 |
| Chromosome location | 12q21.2 |
| Summary | This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphat |
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miRNA
miRNA information provided by mirtarbase database.
575
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9BZF1 | |||||||||||||||
| Protein name | Oxysterol-binding protein-related protein 8 (ORP-8) (OSBP-related protein 8) | |||||||||||||||
| Protein 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 m | |||||||||||||||
| PDB | 1V88 , 5U77 , 5U78 , 8P7A | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed (PubMed:11735225). Expressed at higher level in macrophages (PubMed:17991739). {ECO:0000269|PubMed:11735225, ECO:0000269|PubMed:17991739}. | |||||||||||||||
| Sequence |
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| Sequence length | 889 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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