OSBPL2 gene

oxysterol binding protein like 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds 25-hydroxycholesterol (PubMed:17428193).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal dominant 67

From UniProt:

Deafness, autosomal dominant, 67 (DFNA67): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:616340]

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33

Molecular Location: base pairs 62,238,485 to 62,296,213 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33
  • DFNA67
  • DNFA67
  • ORP-2
  • ORP2