SPNS2 Chromosome 17
SPNS lysolipid transporter 2, sphingosine-1-phosphate
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 63, sphingosine phosphate transporters
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000183018
Associated Conditions (5)
Vascular endothelial growth factor (VEGF) inhibitor response
Inborn genetic diseases
Hearing loss
autosomal recessive 115
Sensorineural hearing loss disorder
Key Variants
RS7213707
association
Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
Health Risk
RS1555537637
Likely pathogenic
Inborn genetic diseases, Hearing loss, autosomal recessive 115
Health Risk
RS1905545130
Likely pathogenic
Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS7213707 | Health Risk | association | Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response |
| RS1555537637 | Health Risk | Likely pathogenic | Inborn genetic diseases, Hearing loss, autosomal recessive 115 |
| RS1905545130 | Health Risk | Likely pathogenic | Sensorineural hearing loss disorder, Sensorineural hearing loss disorder |