S1PR2 Chromosome 19
Sphingosine-1-phosphate receptor 2
Upload your DNA to see your personal genotypes for variants in S1PR2.
What This Gene Does
This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Sphingosine 1-phosphate receptors
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000267534
Associated Conditions (2)
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 68
Key Variants
RS139097585
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143046723
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146537931
Conflicting classifications of pathogenicity
Health Risk
RS762437563
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS774990809
Conflicting classifications of pathogenicity
Health Risk
RS869312749
Pathogenic
Autosomal recessive nonsyndromic hearing loss 68, Autosomal recessive nonsyndromic hearing loss 68
Health Risk
RS869312750
Pathogenic
Autosomal recessive nonsyndromic hearing loss 68, Autosomal recessive nonsyndromic hearing loss 68
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139097585 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143046723 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146537931 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762437563 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774990809 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS869312749 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 68, Autosomal recessive nonsyndromic hearing loss 68 |
| RS869312750 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 68, Autosomal recessive nonsyndromic hearing loss 68 |