Gene: SPNS2

Alternate names for this Gene: DFNB115|SLC62A2|SLC63A2

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: sphingolipid transporter 2

Type of Gene: protein-coding

rs1555537637 in SPNS2 gene and Dysmorphic features PMID 19074308 2009 The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors.

PMID 25356849 2014 Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

rs1555537637 in SPNS2 gene and Multiple congenital anomalies PMID 25356849 2014 Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 19074308 2009 The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors.

rs1555537637 in SPNS2 gene and Muscle hypotonia PMID 25356849 2014 Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

PMID 19074308 2009 The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

rs34956586 in SPNS2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.