• Gene id: 124976

Gene Summary

• Gene Symbol: SPNS2   Gene   UCSC   Ensembl
• Aliases: DFNB115, SLC62A2
• Gene name: sphingolipid transporter 2
• Alternate names: protein spinster homolog 2, SPNS sphingolipid transporter 2, spinster homolog 2,
• Gene location: 17p13.2 (4498880: 4539034)     Exons: 14     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 618636

Protein Summary

• Protein general information: Q8IVW8  
  • Name: Protein spinster homolog 2
  • Length: 549  
  • Mass: 58044
• Sequence:

  MMCLECASAAAGGAEEEEADAERRRRRRGAQRGAGGSGCCGARGAGGAGVSAAGDEVQTLSGSVRRAPTGPPGTP
  GTPGCAATAKGPGAQQPKPASLGRGRGAAAAILSLGNVLNYLDRYTVAGVLLDIQQHFGVKDRGAGLLQSVFICS
  FMVAAPIFGYLGDRFNRKVILSCGIFFWSAVTFSSSFIPQQYFWLLVLSRGLVGIGEASYSTIAPTIIGDLFTKN
  TRTLMLSVFYFAIPLGSGLGYITGSSVKQAAGDWHWALRVSPVLGMITGTLILILVPATKRGHADQLGDQLKART
  SWLRDMKALIRNRSYVFSSLATSAVSFATGALGMWIPLYLHRAQVVQKTAETCNSPPCGAKDSLIFGAITCFTGF
  LGVVTGAGATRWCRLKTQRADPLVCAVGMLGSAIFICLIFVAAKSSIVGAYICIFVGETLLFSNWAITADILMYV
  VIPTRRATAVALQSFTSHLLGDAGSPYLIGFISDLIRQSTKDSPLWEFLSLGYALMLCPFVVVLGGMFFLATALF
  FVSDRARAEQQVNQLAMPPASVKV

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000333292
• Other Databases: GeneCards:  SPNS2  Malacards:  SPNS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0048073	regulation of eye pigmentation	IEA	biological process
GO:0043029	T cell homeostasis	IEA	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0002920	regulation of humoral immune response	IEA	biological process
GO:0002260	lymphocyte homeostasis	IEA	biological process
GO:0072676	lymphocyte migration	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0048535	lymph node development	IEA	biological process
GO:0003376	sphingosine-1-phosphate receptor signaling pathway	IEA	biological process
GO:0001782	B cell homeostasis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0006869	lipid transport	IDA	biological process
GO:0046624	sphingolipid transporter activity	IDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq