SPNS2
entrez
124976
canonical
uniprot
Q8IVW8
canonical
ensembl
ENSG00000183018
resolver
ensp
ENSP00000333292
resolver
enst
ENST00000329078
resolver
genesymbol
SPNS2
resolver
hgnc
HGNC:26992
resolver
uniprot
B9A1T3
resolver
uniprot_entry
SPNS2_HUMAN
resolver
uniprot_sec
B9A1T3
resolver
amino_acid_sequence
MMCLECASAAAGGAEEEEADAERRRRRRGAQRGAGGSGCCGARGAGGAGVSAAGDEVQTLSGSVRRAPTGPPGTPGTPGCAATAKGPGAQQPKPASLGRGRGAAAAILSLGNVLNYLDRYTVAGVLLDIQQHFGVKDRGAGLLQSVFICSFMVAAPIFGYLGDRFNRKVILSCGIFFWSAVTFSSSFIPQQYFWLLVLSRGLVGIGEASYSTIAPTIIGDLFTKNTRTLMLSVFYFAIPLGSGLGYITGSSVKQAAGDWHWALRVSPVLGMITGTLILILVPATKRGHADQLGDQLKARTSWLRDMKALIRNRSYVFSSLATSAVSFATGALGMWIPLYLHRAQVVQKTAETCNSPPCGAKDSLIFGAITCFTGFLGVVTGAGATRWCRLKTQRADPLVCAVGMLGSAIFICLIFVAAKSSIVGAYICIFVGETLLFSNWAITADILMYVVIPTRRATAVALQSFTSHLLGDAGSPYLIGFISDLIRQSTKDSPLWEFLSLGYALMLCPFVVVLGGMFFLATALFFVSDRARAEQQVNQLAMPPASVKV
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 115 (DFNB115) [MIM:618457]: 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. {ECO:0000269|PubMed:30973865}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Lipid transporter that specifically mediates export of sphingosine-1-phosphate (sphing-4-enine 1-phosphate, S1P) and sphinganine-1-phosphate in the lymph, thereby playing a role in lymphocyte trafficking (PubMed:19074308, PubMed:21084291, PubMed:23180825). S1P is a bioactive signaling molecule that regulates many physiological processes important for the development and for the immune system (PubMed:19074308, PubMed:23180825). Regulates levels of S1P and the S1P gradient that exists between the high circulating concentrations of S1P and low tissue levels that control lymphocyte trafficking (PubMed:19074308, PubMed:23180825). Required for the egress of T-cells from lymph nodes during an immune response by mediating S1P secretion, which generates a gradient that enables activated T-cells to access lymph (By similarity). Also required for the egress of immature B-cells from the bone marrow (By similarity). In contrast, not involved in S1P release from red blood cells (By similarity). Involved in auditory function (PubMed:30973865). S1P release in the inner ear is required for maintenance of the endocochlear potential in the cochlea (By similarity). In addition to export, also able to mediate S1P import (By similarity). {ECO:0000250|UniProtKB:Q91VM4, ECO:0000269|PubMed:19074308, ECO:0000269|PubMed:21084291, ECO:0000269|PubMed:23180825, ECO:0000269|PubMed:30973865}.
uniprot
proteins
mass_dalton
58044
uniprot
proteins
mutagenesis
MUTAGEN 200; /note="R->S: Loss of function; does not rescue the cardia bifida phenotype in the morpholino knockdown in zebrafish."; /evidence="ECO:0000269|PubMed:19074308
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Spinster (TC 2.A.1.49) family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19074308
uniprot
proteins
pubmed
21084291
uniprot
proteins
pubmed
23180825
uniprot
proteins
pubmed
30973865
uniprot
proteins
sequence_length
549
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:A2SWM2}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000250|UniProtKB:A2SWM2}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 141..161; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 169..189; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 229..249; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 261..281; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 320..340; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 364..384; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 398..418; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 422..442; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 466..486; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 507..527; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins