SPNS2
Sphingosine-1-phosphate transporter SPNS2
Also known as: SLC63A2, SPNS2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IVW8
- Gene
- SPNS2
- Ensembl
- ENSG00000183018
- Chromosome
- 17
- Canonical length
- 549 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
549 residues, UniProt reviewed canonical sequence.
>Q8IVW8|SPNS2
1 MMCLECASAA AGGAEEEEAD AERRRRRRGA QRGAGGSGCC GARGAGGAGV SAAGDEVQTL
61 SGSVRRAPTG PPGTPGTPGC AATAKGPGAQ QPKPASLGRG RGAAAAILSL GNVLNYLDRY
121 TVAGVLLDIQ QHFGVKDRGA GLLQSVFICS FMVAAPIFGY LGDRFNRKVI LSCGIFFWSA
181 VTFSSSFIPQ QYFWLLVLSR GLVGIGEASY STIAPTIIGD LFTKNTRTLM LSVFYFAIPL
241 GSGLGYITGS SVKQAAGDWH WALRVSPVLG MITGTLILIL VPATKRGHAD QLGDQLKART
301 SWLRDMKALI RNRSYVFSSL ATSAVSFATG ALGMWIPLYL HRAQVVQKTA ETCNSPPCGA
361 KDSLIFGAIT CFTGFLGVVT GAGATRWCRL KTQRADPLVC AVGMLGSAIF ICLIFVAAKS
421 SIVGAYICIF VGETLLFSNW AITADILMYV VIPTRRATAV ALQSFTSHLL GDAGSPYLIG
481 FISDLIRQST KDSPLWEFLS LGYALMLCPF VVVLGGMFFL ATALFFVSDR ARAEQQVNQL
541 AMPPASVKVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SPNS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 11
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 50 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 50 nTPM
- kidney: 34 nTPM
- lung: 27 nTPM
- skin: 24 nTPM
- vagina: 22 nTPM
- cervix: 20 nTPM
Single-cell type
- esophageal apical cells: 627 nCPM
- microglia: 150 nCPM
- renal collecting duct principal cells: 142 nCPM
- proximal tubule cells: 119 nCPM
- oligodendrocytes: 102 nCPM
- vascular endothelial cells: 92 nCPM
Immune cell
- eosinophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- pons: 72 nTPM
- white matter: 61 nTPM
- medulla oblongata: 55 nTPM
- cerebral cortex: 49 nTPM
- midbrain: 45 nTPM
- thalamus: 44 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SPNS2.
Disease | AllUniProt
Conditions SPNS2 is implicated in, by any mechanism.
- Deafness, autosomal recessive, 115 (DFNB115) MIM:618457
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 180 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hearing loss, autosomal recessive 115
- Inborn genetic diseases
- Sensorineural hearing loss disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.07
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- B cell homeostasis
- bone development
- lipid transport
- lymph node development
- lymphocyte migration
- regulation of humoral immune response
- regulation of T cell migration
- sensory perception of sound
- sphingolipid biosynthetic process
- sphingosine-1-phosphate receptor signaling pathway
- T cell homeostasis
- regulation of eye pigmentation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SPNS2 as an antibody target. Whether an autoantibody or antibody against SPNS2 could matter depends on whether native SPNS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SPNS2 is annotated at the cell surface, where native SPNS2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SPNS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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