2. Gene
  3. OSBPL2 - oxysterol binding protein like 2 Gene

OSBPL2 - oxysterol binding protein like 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ORP2; ORP-2; DFNA67; DNFA67

Gene ID: 9885 | Gene type: protein coding

About OSBPL2

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:62,238,521-62,296,183 (from NCBI)

This gene has 28 transcripts (splice variants), 272 orthologues, 11 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 12.0), esophagus (RPKM 9.6) and 25 other tissues.

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 the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]

OSBPL2 Products(4)

mRNA Protein Name
NM_001278649.3 NP_001265578.1 oxysterol-binding protein-related protein 2 isoform 3
NM_001363878.2 NP_001350807.1 oxysterol-binding protein-related protein 2 isoform 4
NM_014835.5 NP_055650.1 oxysterol-binding protein-related protein 2 isoform 1
NM_144498.4 NP_653081.1 oxysterol-binding protein-related protein 2 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables cholesterol binding IDA
IDA: Inferred from direct assay
17428193 GOA
enables cholesterol transfer activity IMP
IMP: Inferred from mutant phenotype
30581148 GOA
enables phosphatidylinositol transfer activity IMP
IMP: Inferred from mutant phenotype
30581148 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: Inferred from direct assay
30581148 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cholesterol transport IMP
IMP: Inferred from mutant phenotype
30581148 GOA
involved in intracellular cholesterol transport IMP
IMP: Inferred from mutant phenotype
30581148 GOA
involved in phospholipid transport IMP
IMP: Inferred from mutant phenotype
30581148 GOA
involved in plasma membrane organization IMP
IMP: Inferred from mutant phenotype
30581148 GOA
involved in protein homotetramerization IDA
IDA: Inferred from direct assay
30581148 GOA
involved in regulation of synaptic vesicle priming IDA
IDA: Inferred from direct assay
36577376 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
30581148 GOA
located in cytosol IDA
IDA: Inferred from direct assay
30581148 GOA
is active in glutamatergic synapse IDA
IDA: Inferred from direct assay
36577376 GOA
colocalizes with lipid droplet IMP
IMP: Inferred from mutant phenotype
19224871 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OSBPL2 Protein Structure

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (75 - 470)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 480 a.a.
Protein Preferred Names Protein Names

oxysterol-binding protein-related protein 2

OSBP-related protein 2

Related Diseases

Diseases Alias
Deafness, Autosomal Dominant 67

DFNA67

Autosomal Dominant Nonsyndromic Deafness 67

Autosomal Dominant Deafness 67

Deafness, Autosomal Dominant, 67

Deafness, Autosomal Dominant, Type 67
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Dominant 20

DFNA20

Dfna26

Deafness, Autosomal Dominant 20/26

Autosomal Dominant Nonsyndromic Deafness 20

Autosomal Dominant Deafness 20

Deafness, Autosomal Dominant, 20

Deafness Autosomal Dominant 26

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20

Deafness, Autosomal Dominant, Type 20/26
Deafness, Autosomal Dominant 68

DFNA68

Autosomal Dominant Nonsyndromic Deafness 68

Autosomal Dominant Deafness 68

Deafness, Autosomal Dominant, 68
Autosomal Dominant Alport Syndrome

Alport Syndrome, Autosomal Dominant

Alport Syndrome Dominant Type

Renal Failure And Sensorineural Hearing Loss

Alport Syndrome, Dominant Type
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09840 OSBPL2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris OSBPL2 VGNC VGNC:44154
Rattus norvegicus OSBPL2 RGD RGD:1311312
Bos taurus OSBPL2 VGNC VGNC:32461
Macaca mulatta OSBPL2 VGNC VGNC:75611
Felis catus OSBPL2 VGNC VGNC:63978
Mus musculus OSBPL2 MGD MGI:2442832