OSBPL2 - oxysterol binding protein like 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9885

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	References	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	References	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	References	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

0
100
200
300
400
480 a.a.

Protein Preferred Names	Protein Names
oxysterol-binding protein-related protein 2	OSBP-related protein 2

OSBPL2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	OSBPL2	Q9H1P3	VAPB	Homo sapiens	Q53XM7	Y2H Prey Pooling	25416956
Intra	OSBPL2	Q9H1P3	VAPB	Homo sapiens	Q53XM7	Y2H Array	25416956
Intra	OSBPL2	Q9H1P3	VAPA	Homo sapiens	Q9P0L0	BiFC	25681634
Intra	OSBPL2	Q9H1P3	VAPB	Homo sapiens	O95292	Y2H Array	31515488
Intra	OSBPL2	Q9H1P3	BIRC6	Homo sapiens	Q9NR09	Anti Tag CoIP	33961781
Intra	OSBPL2	Q9H1P3	SNRPF	Homo sapiens	P62306	Y2H Array	32296183
Intra	OSBPL2	Q9H1P3	SNRPF	Homo sapiens	P62306	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	OSBPL2	NCBI