• Gene id: 9885

Gene Summary

• Gene Symbol: OSBPL2   Gene   UCSC   Ensembl
• Aliases: DFNA67, DNFA67, ORP-2, ORP2
• Gene name: oxysterol binding protein like 2
• Alternate names: oxysterol-binding protein-related protein 2, OSBP-related protein 2,
• Gene location: 20q13.33 (62238520: 62296212)     Exons: 15     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 606731

Protein Summary

• Protein general information: Q9H1P3  
  • Name: Oxysterol binding protein related protein 2 (ORP 2) (OSBP related protein 2)
  • Length: 480  
  • Mass: 55201
  • Tissue specificity: Widely expressed.
• Sequence:

  MNGEEEFFDAVTGFDSDNSSGEFSEANQKVTGMIDLDTSKNNRIGKTGERPSQENGIQKHRTSLPAPMFSRSDFS
  VWTILKKCVGLELSKITMPIAFNEPLSFLQRITEYMEHVYLIHRASCQPQPLERMQSVAAFAVSAVASQWERTGK
  PFNPLLGETYELIREDLGFRFISEQVSHHPPISAFHSEGLNHDFLFHGSIYPKLKFWGKSVEAEPRGTITLELLK
  HNEAYTWTNPTCCVHNVIIGKLWIEQYGTVEILNHRTGHKCVLHFKPCGLFGKELHKVEGHIQDKNKKKLFMIYG
  KWTECLWGIDPVSYESFKKQERRGDHLRKAKLDEDSGKADSDVADDVPVAQETVQVIPGSKLLWRINTRPPNSAQ
  MYNFTSFTVSLNELETGMEKTLPPTDCRLRPDIRGMENGNMDLASQEKERLEEKQREARRERAKEEAEWQTRWFY
  PGNNPYTGTPDWLYAGDYFERNFSDCPDIY

• Structural information:
  • Interpro: IPR037239  IPR000648  IPR018494  
  • Prosite: PS01013
  • PDB: 5ZM8
  • PDBsum: 5ZM8
  • STRING: ENSP00000316649
• Other Databases: GeneCards:  OSBPL2  Malacards:  OSBPL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	TAS	cellular component
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015485	cholesterol binding	IDA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0007009	plasma membrane organization	IMP	biological process
GO:0030301	cholesterol transport	IMP	biological process
GO:0015914	phospholipid transport	IMP	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0032934	sterol binding	IBA	molecular function
GO:0008289	lipid binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0015485	cholesterol binding	IBA	molecular function
GO:0015248	sterol transporter activity	IBA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0005811	lipid droplet	IMP	colocalizes with
GO:0008526	phosphatidylinositol transfer activity	IMP	molecular function
GO:0120020	cholesterol transfer activity	IMP	molecular function
GO:0032367	intracellular cholesterol transport	IMP	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal dominant	KEGG:H00604
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq