SPNS2 gene

sphingolipid transporter 2

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

From NCBI Gene:

The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]

From UniProt:

Acts a a crucial lysosphingolipid sphingosine 1-phosphate (S1P) transporter involved in S1P secretion and function (PubMed:19074308, PubMed:23180825). S1P is a bioactive signaling molecule that regulates many physiological processes important for the development and for the immune system. Regulates levels of S1P and the S1P gradient that exists between the high circulating concentrations of S1P and low tissue levels that control lymphocyte trafficking (PubMed:19074308, PubMed:23180825).

From NCBI Gene:

  • DEAFNESS, AUTOSOMAL RECESSIVE 115

From UniProt:

Deafness, autosomal recessive, 115 (DFNB115): A form of non-syndromic deafness characterized by severe sensorineural hearing impairment in early childhood. 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:618457]

Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2

Molecular Location: base pairs 4,498,881 to 4,539,035 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17p13.2, which is the short (p) arm of chromosome 17 at position 13.2
  • DFNB115
  • SLC62A2