Gene Gene information from NCBI Gene database.
Entrez ID 114883
Gene name Oxysterol binding protein like 9
Gene symbol OSBPL9
Synonyms (NCBI Gene)
ORP-9ORP9
Chromosome 1
Chromosome location 1p32.3
Summary This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although
miRNA miRNA information provided by mirtarbase database.
194
miRTarBase ID miRNA Experiments Reference
MIRT020828 hsa-miR-155-5p Proteomics 18668040
MIRT045719 hsa-miR-125a-5p CLASH 23622248
MIRT038381 hsa-miR-296-3p CLASH 23622248
MIRT071838 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT547242 hsa-miR-511-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19615732, 20599956, 22906437, 29547901, 35271311
GO:0005768 Component Endosome IEA
GO:0005794 Component Golgi apparatus IBA
GO:0005794 Component Golgi apparatus IDA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606737 16386 ENSG00000117859
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96SU4
Protein name Oxysterol-binding protein-related protein 9 (ORP-9) (OSBP-related protein 9)
Protein function Interacts with OSBPL11 to function as lipid transfer proteins (PubMed:39106189). Together they form a heterodimer that localizes at the ER-trans-Golgi membrane contact sites, and exchanges phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-se
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 3 99 PH domain Domain
PF01237 Oxysterol_BP 377 729 Oxysterol-binding protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11735225}.
Sequence
Sequence length 736
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of bile acids and bile salts
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36918840 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Cerebral Infarction BEFREE 24190612
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27609023 Associate
★☆☆☆☆
Found in Text Mining only
Hyperlipidemia, Familial Combined Hyperlipidemia BEFREE 19554302
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 40108662 Associate
★☆☆☆☆
Found in Text Mining only
Thyroid Cancer Papillary Papillary thyroid cancer Pubtator 28507274 Associate
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 36761744 Associate
★☆☆☆☆
Found in Text Mining only