Gene Gene information from NCBI Gene database.
Entrez ID 9885
Gene name Oxysterol binding protein like 2
Gene symbol OSBPL2
Synonyms (NCBI Gene)
DFNA67DNFA67ORP-2ORP2
Chromosome 20
Chromosome location 20q13.33
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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs786205880 TC>- Pathogenic Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs786205881 TG>- Pathogenic Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
499
miRTarBase ID miRNA Experiments Reference
MIRT049254 hsa-miR-92a-3p Luciferase reporter assay 23622248
MIRT049254 hsa-miR-92a-3p CLASH 23622248
MIRT687342 hsa-miR-1910-3p HITS-CLIP 23313552
MIRT687341 hsa-miR-6511a-5p HITS-CLIP 23313552
MIRT687340 hsa-miR-6808-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25681634, 31515488, 32296183, 33961781
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 30581148
GO:0005737 Component Cytoplasm IEA
GO:0005811 Component Lipid droplet IEA
GO:0005811 Component Lipid droplet IMP 19224871
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606731 15761 ENSG00000130703
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H1P3
Protein name Oxysterol-binding protein-related protein 2 (ORP-2) (OSBP-related protein 2)
Protein function Intracellular transport protein that binds sterols and phospholipids and mediates lipid transport between intracellular compartments. Increases plasma membrane cholesterol levels and decreases phosphatidylinositol-4,5-bisphosphate levels in the
PDB 5ZM8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01237 Oxysterol_BP 75 470 Oxysterol-binding protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
Sequence length 480
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.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant nonsyndromic hearing loss 67 Pathogenic rs786205880, rs786205881, rs1981202197, rs1981200603 RCV000170349
RCV000170350
RCV001255991
RCV003135912
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER 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
Autosomal dominant non-syndromic sensorineural deafness type DFNA Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29947926, 36918840 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33258187 Associate
★☆☆☆☆
Found in Text Mining only
Deafness Deafness Pubtator 30391516, 30894143, 35682719 Associate
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 67 Deafness GENOMICS_ENGLAND_DG 9872452
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 67 Deafness CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 67 Deafness CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major depressive disorder Pubtator 30391516 Associate
★☆☆☆☆
Found in Text Mining only
Distal Myopathies Distal myopathy Pubtator 30894143 Associate
★☆☆☆☆
Found in Text Mining only
Dyslipidemias Dyslipidemias BEFREE 31451425
★☆☆☆☆
Found in Text Mining only