| Type | Description |
|---|---|
| Definition | oxysterol binding protein like 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-12 16:00:00 | Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity. | 31427568 |
| 2020-07-11 11:48:00 | It identified novel pathways modulated by OSBPL2 orthologues, providing new insight into the mechanism of hearing loss induced by OSBPL2 deficiency. | 31629475 |
| 2020-07-04 12:35:00 | OSBPL2 deficiency upregulates SQLE expression and increases the accumulation of cholesterol and cholesteryl ester by suppressing AMPK signalling, which provides new evidence of the connection between OSBPL2 and cholesterol synthesis. | 31356817 |
| 2019-08-24 13:03:00 | Whole genome sequencing identified a novel pathogenic frameshift mutation, a two-nucleotide deletion, in OSBPL2 (c.158_159delAA) as the pathogenic variant for deafness in a Mongolian family. This finding expands the mutational spectrum of OSBPL2 and contributes to the pathogenic variant list in genetic counseling for deafness screening. | 30894143 |
| 2019-06-01 11:03:00 | ORP2 regulates the levels of both cholesterol and PI(4,5)P2 on the plasma membrane, and ORP2 forms a tetramer to efficiently transfer PI(4,5)P2. | 30581148 |
| Type | IDs |
|---|---|
| Synonymous | DFNA67, DNFA67, ORP-2, ORP2 |
| Gene |
UniProtKB-ID:
OSBL2_HUMAN,
B4DKJ8_HUMAN,
E7ET92_HUMAN
UniprotKB:
Q9H1P3,
B4DKJ8,
E7ET92
UniParc:
UPI0000130E96,
UPI000002B02B,
UPI00017A7404,
UPI0001AE65E9
EMBL:
AL354836,
BC000296,
AB018315,
AF392447,
AY028168,
BC004455,
AL078633,
AK296595,
AF331963,
CH471077,
AK291851,
CR456722
Ensembl:
ENSG00000130703
KO:
hsa:9885
|
| Nucleutide sequences |
EMBL-CDS:
AAL40660.1,
EAW75379.1,
BAF84540.1,
AAH04455.1,
EAW75377.1,
AAH00296.1,
AAK18044.1,
CAG33003.1,
AAG53416.1,
BAA34492.2,
BAG59210.1
Ensembl_TRS:
ENST00000643412,
ENST00000643981,
ENST00000313733,
ENST00000358053,
ENST00000439951,
ENST00000645520
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000350755,
ENSP00000495379,
ENSP00000494549,
ENSP00000316649,
ENSP00000495166,
ENSP00000397602
RefSeq:
NP_055650.1,
NP_653081.1,
NP_001350807.1,
NP_001265578.1
|
| Others |
UniRef100:
UniRef100_B4DKJ8,
UniRef100_Q9H1P3,
UniRef100_E7ET92
UniRef90:
UniRef90_E7ET92,
UniRef90_Q9H1P3
UniRef50:
UniRef50_Q9H1P3,
UniRef50_A0A2I2UB70
UniGene:
Hs.473254
CCDS:
CCDS13494.1,
CCDS13495.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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