Gene Gene information from NCBI Gene database.
Entrez ID 114882
Gene name Oxysterol binding protein like 8
Gene symbol OSBPL8
Synonyms (NCBI Gene)
MST120MSTP120ORP8OSBP10
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
miRNA miRNA information provided by mirtarbase database.
575
miRTarBase ID miRNA Experiments Reference
MIRT002590 hsa-miR-124-3p Microarray 15685193
MIRT019760 hsa-miR-375 Microarray 20215506
MIRT021770 hsa-miR-132-3p Microarray 17612493
MIRT002590 hsa-miR-124-3p Microarray 18668037
MIRT002590 hsa-miR-124-3p Microarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IDA 26206935
GO:0001786 Function Phosphatidylserine binding IEA
GO:0005515 Function Protein binding IPI 24424245
GO:0005548 Function Phospholipid transporter activity IEA
GO:0005548 Function Phospholipid transporter activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606736 16396 ENSG00000091039
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00169 PH 149 265 PH domain Domain
PF01237 Oxysterol_BP 406 752 Oxysterol-binding protein Family
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
MEGGLADGEPDRTSLLGDSKDVLGPSTVVANSDESQLLTPGKMSQRQGKEAYPTPTKDLH
QPSLSPASPHSQGFERGKEDISQNKDESSLSMSKSKSESKLYNGSEKDSSTSSKLTKKES
LKVQKKNYREEKKRATKELLSTITDPSVIVMADWLKIRGTLKSWTKLWCVLKPGVLLIYK
TQKNGQWVGTVLLNACEIIERPSKKDGFCFKLFHPLEQSIWAVKGPKGEAVGSITQPLPS
SYLIIRATSESDGRCWMDALELALK
CSSLLKRTMIREGKEHDLSVSSDSTHVTFYGLLRA
NNLHSGDNFQLNDSEIERQHFKDQDMYSDKSDKENDQEHDESDNEVMGKSEESDTDTSER
QDDSYIEPEPVEPLKETTYTEQSHEELGEAGEASQTETVSEENKSLIWTLLKQVRPGMDL
SKVVLPTFILEPRSFLDKLSDYYYHADFLSEAALEENPYFRLKKVVKWYLSGFYKKPKGL
KKPYNPILGETFRCLWIHPRTNSKTFYIAEQVSHHPPISAFYVSNRKDGFCLSGSILAKS
KFYGNSLSAILEGEARLTFLNRGEDYVMTMPYAHCKGILYGTMTLELGGTVNITCQKTGY
SAILEFKLKPFLGSSDCVNQISGKLKLGKEVLATLEGHWDSEVFITDKKTDNSEVFWNPT
PDIKQWRLIRHTVKFEEQGDFESEKLWQRVTRAINAKDQTEATQEKYVLEEAQRQAARDR
KTKNEEWSCKLFELDPLTGEWHYKFADTRPWD
PLNDMIQFEKDGVIQTKVKHRTPMVSVP
KMKHKPTRQQKKVAKGYSSPEPDIQDSSGSEAQSVKPSTRRKKGIELGDIQSSIESIKQT
QEEIKRNIMALRNHLVSSTPATDYFLQQKDYFIIFLLILLQVIINFMFK
Sequence length 889
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Acyl chain remodelling of PS
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BARDET-BIEDL SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARDET-BIEDL SYNDROME 10 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atherosclerosis Atherosclerosis LHGDN 17991739
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 17991739 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25596532, 36918840 Associate
★☆☆☆☆
Found in Text Mining only
Congenital contractural arachnodactyly Congenital Contractural Arachnodactyly BEFREE 21763455
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 17991739 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 29680463
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 27983927
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27983927
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 27983927
★☆☆☆☆
Found in Text Mining only