Property Summary

NCBI Gene PubMed Count 23
Grant Count 10
R01 Count 10
Funding $473,768.02
PubMed Score 18.75
PubTator Score 13.43

Knowledge Summary

Patent

No data available

Expression

Gene RIF (8)

PMID Text
25759012 This study and the recent description of another frameshift mutation in a Chinese ADNSHL family identify OSBPL2 as a novel gene for progressive deafness.
25420878 Complexes of human ORP2 and VAPs at endoplasmic reticulum-lipid droplet interfaces regulate the hydrolysis of triglycerides and lipid droplet turnover.
25077649 Results identified frameshift and missense mutation in OSBPL2 gene in familial and sporadic case of deafness suggesting OSBPL2 as a novel candidate gene for autosomal dominant nonsyndromic hearing loss .
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19554302 Observational study of gene-disease association. (HuGE Navigator)
19224871 Results identify ORP2 as a sterol receptor present on LD and provide evidence for its role in the regulation of neutral lipid metabolism, possibly as a factor that integrates the cellular metabolism of triglycerides with that of cholesterol.
11861666 ORP2 as a novel regulator of cellular sterol homeostasis and intracellular membrane trafficking.

AA Sequence

MNGEEEFFDAVTGFDSDNSSGEFSEANQKVTGMIDLDTSKNNRIGKTGERPSQENGIQKHRTSLPAPMFS      1 - 70
RSDFSVWTILKKCVGLELSKITMPIAFNEPLSFLQRITEYMEHVYLIHRASCQPQPLERMQSVAAFAVSA     71 - 140
VASQWERTGKPFNPLLGETYELIREDLGFRFISEQVSHHPPISAFHSEGLNHDFLFHGSIYPKLKFWGKS    141 - 210
VEAEPRGTITLELLKHNEAYTWTNPTCCVHNVIIGKLWIEQYGTVEILNHRTGHKCVLHFKPCGLFGKEL    211 - 280
HKVEGHIQDKNKKKLFMIYGKWTECLWGIDPVSYESFKKQERRGDHLRKAKLDEDSGKADSDVADDVPVA    281 - 350
QETVQVIPGSKLLWRINTRPPNSAQMYNFTSFTVSLNELETGMEKTLPPTDCRLRPDIRGMENGNMDLAS    351 - 420
QEKERLEEKQREARRERAKEEAEWQTRWFYPGNNPYTGTPDWLYAGDYFERNFSDCPDIY              421 - 480
//

Text Mined References (27)

PMID Year Title
25759012 2015 OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
25681634 2015 Sterol liganding of OSBP-related proteins (ORPs) regulates the subcellular distribution of ORP-VAPA complexes and their impacts on organelle structure.
25420878 2015 Ligand-dependent localization and function of ORP-VAP complexes at membrane contact sites.
25416956 2014 A proteome-scale map of the human interactome network.
25077649 2015 Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23325789 2013 cAMP-stimulated phosphorylation of diaphanous 1 regulates protein stability and interaction with binding partners in adrenocortical cells.
23028956 2012 OSBP-related proteins (ORPs) in human adipose depots and cultured adipocytes: evidence for impacts on the adipocyte phenotype.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
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