S1PR2 sphingosine-1-phosphate receptor 2
Gene ID: 9294, updated on 31-Mar-2024Gene type: protein coding
Also known as: EDG5; H218; LPB2; S1P2; AGR16; EDG-5; DFNB68; Gpcr13
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- Go to complete Gene record for S1PR2
- Go to Variation Viewer for S1PR2 variants
Summary
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]
Associated conditions
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Description | Tests |
---|---|
Autosomal recessive nonsyndromic hearing loss 68 | See labs |
Genomic context
- Location:
- 19p13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (10221433..10231331, complement)
- Total number of exons:
- 2
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for S1PR2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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