Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9885
Gene name Gene Name - the full gene name approved by the HGNC.
Oxysterol binding protein like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OSBPL2
Synonyms (NCBI Gene) Gene synonyms aliases
DFNA67, DNFA67, ORP-2, ORP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNA67
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 30581148
GO:0005811 Component Lipid droplet IMP 19224871
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA 30581148
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606731 15761 ENSG00000130703
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Deafness DEAFNESS, AUTOSOMAL DOMINANT 67 rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
9872452
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Nonsyndromic deafness Nonsyndromic Deafness rs606231410, rs794729665, rs730880338, rs1566538321 25077649, 25759012
Unknown
Disease term Disease name Evidence References Source
Bipolar Disorder Bipolar Disorder GWAS
Restless Legs Syndrome Restless Legs Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 29947926, 36918840
Colorectal Neoplasms Associate 33258187
Deafness Associate 30391516, 30894143, 35682719
Depressive Disorder Associate 30391516
Distal Myopathies Associate 30894143
Glucosephosphate Dehydrogenase Deficiency Associate 35682719
Hearing Loss Associate 35682719
Inflammation Associate 33854310
Neoplasms Stimulate 36918840
Pulmonary Disease Chronic Obstructive Associate 33854310