OSBPL2

Protein identityUniProt · HPA

UniProt accession

Q9H1P3

Gene

OSBPL2

Ensembl

ENSG00000130703

Chromosome

20

Canonical length

480 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

480 residues, UniProt reviewed canonical sequence.

>Q9H1P3|OSBPL2
     1  MNGEEEFFDA VTGFDSDNSS GEFSEANQKV TGMIDLDTSK NNRIGKTGER PSQENGIQKH
    61  RTSLPAPMFS RSDFSVWTIL KKCVGLELSK ITMPIAFNEP LSFLQRITEY MEHVYLIHRA
   121  SCQPQPLERM QSVAAFAVSA VASQWERTGK PFNPLLGETY ELIREDLGFR FISEQVSHHP
   181  PISAFHSEGL NHDFLFHGSI YPKLKFWGKS VEAEPRGTIT LELLKHNEAY TWTNPTCCVH
   241  NVIIGKLWIE QYGTVEILNH RTGHKCVLHF KPCGLFGKEL HKVEGHIQDK NKKKLFMIYG
   301  KWTECLWGID PVSYESFKKQ ERRGDHLRKA KLDEDSGKAD SDVADDVPVA QETVQVIPGS
   361  KLLWRINTRP PNSAQMYNFT SFTVSLNELE TGMEKTLPPT DCRLRPDIRG MENGNMDLAS
   421  QEKERLEEKQ REARRERAKE EAEWQTRWFY PGNNPYTGTP DWLYAGDYFE RNFSDCPDIY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OSBPL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

43 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OSBPL2.

Disease | AllUniProt

Conditions OSBPL2 is implicated in, by any mechanism.

• Deafness, autosomal dominant, 67 (DFNA67) MIM:616340

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 305 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal dominant nonsyndromic hearing loss 67

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.48

gnomAD pLI

0.13

gnomAD missense Z

1.97

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bile acid biosynthetic process
• cholesterol transport
• intracellular cholesterol transport
• phospholipid transport
• plasma membrane organization
• protein homotetramerization
• regulation of presynaptic cytosolic calcium ion concentration
• regulation of synaptic vesicle priming

Molecular functions

• cholesterol binding
• cholesterol transfer activity
• phosphatidylinositol transfer activity
• phosphatidylinositol-4,5-bisphosphate binding
• sterol transfer activity

Cellular components

• cytoplasmic side of plasma membrane
• cytosol
• glutamatergic synapse
• lipid droplet
• perinuclear endoplasmic reticulum
• plasma membrane
• presynaptic active zone cytoplasmic component

Protein domainsUniProt · Pfam · InterPro

• Oxysterol-binding protein
• Oxysterol-binding protein, conserved site
• Oxysterol-binding protein superfamily
• Oxysterol-binding protein

KeywordsUniProt

• Cell membrane
• Cytoplasm
• Deafness
• Lipid droplet
• Lipid transport
• Lipid-binding
• Membrane
• Non-syndromic deafness
• Phosphoprotein
• Transport

InteractionsUniProt · HPA

Protein binding partners of OSBPL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DIAPH1
• VAPB