Entity Details

Primary name SPNS2
Entity type gene
Source Source Link

Details

PrimaryID124976
RefseqGene
SymbolSPNS2
Namesphingolipid transporter 2
Chromosome17
Location17p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSPNS2_HUMAN

GO terms

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GOName
GO:0001782 B cell homeostasis
GO:0002920 regulation of humoral immune response
GO:0003376 sphingosine-1-phosphate receptor signaling pathway
GO:0005886 plasma membrane
GO:0006869 lipid transport
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
GO:0022857 transmembrane transporter activity
GO:0030148 sphingolipid biosynthetic process
GO:0043029 T cell homeostasis
GO:0046624 sphingolipid transporter activity
GO:0048073 regulation of eye pigmentation
GO:0048535 lymph node development
GO:0060348 bone development
GO:0072676 lymphocyte migration

Diseases

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Disease IDSourceNameDescription
618457 OMIMDeafness, 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
SPNS2AGR2BioGRID30575818 details
SPNS2HNRNPH1BioGRID26760575 details