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The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]
OSBP2 (Oxysterol Binding Protein 2) is a Protein Coding gene. Diseases associated with OSBP2 include Opisthorchiasis. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008289 | lipid binding | IEA | -- |
GO:0015248 | sterol transporter activity | IBA | 21873635 |
GO:0015485 | cholesterol binding | IDA | 17428193 |
GO:0032934 | sterol binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | IBA | 21873635 |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IBA | 21873635 |
GO:0043231 | intracellular membrane-bounded organelle | IBA | 21873635 |
GO:0097038 | perinuclear endoplasmic reticulum | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006869 | lipid transport | IEA | -- |
GO:0007286 | spermatid development | IEA | -- |
GO:0015918 | sterol transport | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | OSBP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | OSBP2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Osbp2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | OSBP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Osbp2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | OSBP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | OSBP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | OSBP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | OSBP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | osbp2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-106a19.1 30 |
|
||
OSBP2 (1 of 2) 31 |
|
OneToMany | |||
osbp2 31 |
|
OneToMany | |||
Dr.19662 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Osbp 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010893 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | obr-1 30 31 |
|
OneToMany | |
Y47D3A.17a 32 |
|
|
|||
Y47D3A.17b 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SWH1 31 |
|
ManyToMany | |
OSH2 31 33 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ORP1C 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111501980 | Benign: not provided | 30,695,278(+) |
A/G NM_030758.4(OSBP2):c.369A>G (p.Ala123=) |
SYNONYMOUS_VARIANT,INTRON | |
rs182152986 | Benign: not provided | 30,694,984(+) |
G/C NM_030758.4(OSBP2):c.75G>C (p.Thr25=) |
SYNONYMOUS_VARIANT,INTRON | |
rs200103201 | Benign: not provided | 30,889,243(+) |
G/C NM_030758.4(OSBP2):c.1476+9G>C |
NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
rs35988107 | Benign: not provided | 30,893,490(+) |
G/C NM_030758.4(OSBP2):c.2018G>C (p.Ser673Thr) |
MISSENSE | |
rs377386207 | Likely Benign: not provided | 30,906,019(+) |
G/A NM_030758.4(OSBP2):c.2558G>A (p.Arg853His) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2500485 | CNV | deletion | 19546169 |
esv2724137 | CNV | deletion | 23290073 |
esv2763260 | CNV | gain | 21179565 |
esv3568356 | CNV | loss | 25503493 |
esv3647568 | CNV | gain | 21293372 |
esv3647569 | CNV | gain | 21293372 |
esv3647570 | CNV | loss | 21293372 |
esv3647571 | CNV | loss | 21293372 |
esv3647572 | CNV | loss | 21293372 |
esv3647573 | CNV | gain | 21293372 |
esv3647574 | CNV | loss | 21293372 |
esv3647575 | CNV | gain | 21293372 |
nsv1110864 | OTHER | inversion | 24896259 |
nsv1139055 | CNV | deletion | 24896259 |
nsv1139056 | CNV | deletion | 24896259 |
nsv520242 | CNV | gain+loss | 19592680 |
nsv522377 | CNV | gain | 19592680 |
nsv524629 | CNV | gain | 19592680 |
nsv588888 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
opisthorchiasis |
|
|