OSBPL2 (oxysterol binding protein like 2)

2018-11-01  

Identity

HGNC
OSBPL2
LOCATION
20q13.33
LOCUSID
9885
ALIAS
DFNA67,DNFA67,ORP-2,ORP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9885
MIM: 606731
HGNC: 15761
Ensembl: ENSG00000130703

Variants:

dbSNP: 9885
ClinVar: 9885
TCGA: ENSG00000130703
COSMIC: OSBPL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130703ENST00000313733Q9H1P3
ENSG00000130703ENST00000358053Q9H1P3
ENSG00000130703ENST00000439951E7ET92
ENSG00000130703ENST00000448156H0Y7X4
ENSG00000130703ENST00000618509A0A087WVV0
ENSG00000130703ENST00000622332A0A087WTV1
ENSG00000130703ENST00000642516A0A2R8Y5R1
ENSG00000130703ENST00000642714A0A2R8Y362
ENSG00000130703ENST00000642932A0A2R8YFT0
ENSG00000130703ENST00000642957A0A2R8YG53
ENSG00000130703ENST00000643174A0A2R8Y429
ENSG00000130703ENST00000643412Q9H1P3
ENSG00000130703ENST00000643981Q9H1P3
ENSG00000130703ENST00000644189A0A2R8Y690
ENSG00000130703ENST00000644535A0A2R8YG59
ENSG00000130703ENST00000644702A0A2R8YD49
ENSG00000130703ENST00000644775A0A2R8YEX0
ENSG00000130703ENST00000645426A0A2R8YG95
ENSG00000130703ENST00000645442A0A2R8YDU7
ENSG00000130703ENST00000645520E7ET92
ENSG00000130703ENST00000646834A0A2R8Y5B9
ENSG00000130703ENST00000646968A0A2R8Y703

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192248712009OSBP-related protein 2 is a sterol receptor on lipid droplets that regulates the metabolism of neutral lipids.26
305811482019ORP2 Delivers Cholesterol to the Plasma Membrane in Exchange for Phosphatidylinositol 4, 5-Bisphosphate (PI(4,5)P2).18
250776492015Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.16
118616662002ORP2, a homolog of oxysterol binding protein, regulates cellular cholesterol metabolism.15
254208782015Ligand-dependent localization and function of ORP-VAP complexes at membrane contact sites.13
257590122015OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).13
195543022009OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
269925642016Oxysterol-related-binding-protein related Protein-2 (ORP2) regulates cortisol biosynthesis and cholesterol homeostasis.6

Citation

Dessen P

OSBPL2 (oxysterol binding protein like 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57733/osbpl2