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Aliases for SPNS2 Gene

Aliases for SPNS2 Gene

  • Sphingolipid Transporter 2 2 3 5
  • Spinster Homolog 2 (Drosophila) 2

External Ids for SPNS2 Gene

Previous GeneCards Identifiers for SPNS2 Gene

  • GC17P004349
  • GC17P004402

Summaries for SPNS2 Gene

Entrez Gene Summary for SPNS2 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]

GeneCards Summary for SPNS2 Gene

SPNS2 (Sphingolipid Transporter 2) is a Protein Coding gene. GO annotations related to this gene include transmembrane transporter activity and sphingolipid transporter activity. An important paralog of this gene is SPNS1.

UniProtKB/Swiss-Prot for SPNS2 Gene

  • Sphingolipid transporter required for migration of myocardial precursors. Transports sphingosine 1-phosphate (S1P), a secreted lipid mediator that plays critical roles in cardiovascular, immunological, and neural development and function. Mediates the export of S1P from cells in the extraembryonic yolk syncytial layer (YSL), thereby regulating myocardial precursor migration.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPNS2 Gene

Genomics for SPNS2 Gene

Regulatory Elements for SPNS2 Gene

Enhancers for SPNS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G004533 1.4 Ensembl ENCODE dbSUPER 12.2 +37.2 37216 5.6 ELF3 FOXA2 PKNOX1 NFIB AGO1 THRB GLIS2 CREM EGR2 ZNF263 GGT6 ENSG00000229782 SPNS2 MYBBP1A C17orf107 KIF1C GC17P004547 PIR35626 PIR53941
GH17G004420 1.1 Ensembl ENCODE 12.5 -78.0 -77996 0.4 ARID4B ZNF2 RAD21 ZNF143 CREM THAP11 ZNF654 REST MIER2 PPARG ENSG00000229782 SPNS2 SPNS3 GC17P004368
GH17G004530 1 ENCODE dbSUPER 12 +32.2 32233 2.0 BCOR AGO1 JUN ZMYM3 CEBPG RAD21 ZNF791 GLIS2 ZNF366 POLR2A LOC101927979 GGT6 ENSG00000229782 SPNS2 LOC105371492 MYBBP1A PIR53941 GC17P004547 PIR35626
GH17G004433 0.9 Ensembl ENCODE 12.1 -65.0 -64961 1.5 ZNF362 CEBPB MAX CEBPG ZNF384 ZNF394 FEZF1 OSR2 ZNF121 GLIS2 SPNS2 ENSG00000229782 SPNS3 PIR52974
GH17G004518 1.3 Ensembl ENCODE dbSUPER 6.9 +22.1 22063 4.7 CTCF MAX RAD21 ZFHX2 GATA3 POLR2A EED ZSCAN5C IKZF2 ZNF687 GGT6 ZNF594 LOC101927979 LOC100130950 RNU6-955P LOC105371492 SPNS2 PIR53941 GC17P004547 PIR35626
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPNS2 on UCSC Golden Path with GeneCards custom track

Promoters for SPNS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090481 166 801 RING1 MAZ SUZ12 BHLHE40 ZNF10 CBX2 ZEB2 ZBTB8A ZEB1 ZSCAN21

Genomic Location for SPNS2 Gene

Chromosome:
17
Start:
4,498,834 bp from pter
End:
4,539,933 bp from pter
Size:
41,100 bases
Orientation:
Plus strand

Genomic View for SPNS2 Gene

Genes around SPNS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPNS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPNS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPNS2 Gene

Proteins for SPNS2 Gene

  • Protein details for SPNS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVW8-SPNS2_HUMAN
    Recommended name:
    Protein spinster homolog 2
    Protein Accession:
    Q8IVW8
    Secondary Accessions:
    • B9A1T3

    Protein attributes for SPNS2 Gene

    Size:
    549 amino acids
    Molecular mass:
    58044 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPNS2 Gene

Post-translational modifications for SPNS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPNS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPNS2 Gene

Domains & Families for SPNS2 Gene

Protein Domains for SPNS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPNS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IVW8

UniProtKB/Swiss-Prot:

SPNS2_HUMAN :
  • Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family.
Family:
  • Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family.
genes like me logo Genes that share domains with SPNS2: view

No data available for Gene Families for SPNS2 Gene

Function for SPNS2 Gene

Molecular function for SPNS2 Gene

UniProtKB/Swiss-Prot Function:
Sphingolipid transporter required for migration of myocardial precursors. Transports sphingosine 1-phosphate (S1P), a secreted lipid mediator that plays critical roles in cardiovascular, immunological, and neural development and function. Mediates the export of S1P from cells in the extraembryonic yolk syncytial layer (YSL), thereby regulating myocardial precursor migration.

Gene Ontology (GO) - Molecular Function for SPNS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046624 sphingolipid transporter activity IBA,IEA --
genes like me logo Genes that share ontologies with SPNS2: view
genes like me logo Genes that share phenotypes with SPNS2: view

Animal Models for SPNS2 Gene

MGI Knock Outs for SPNS2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPNS2 Gene

Localization for SPNS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPNS2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPNS2 gene
Compartment Confidence
lysosome 3
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SPNS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IBA --
genes like me logo Genes that share ontologies with SPNS2: view

Pathways & Interactions for SPNS2 Gene

SuperPathways for SPNS2 Gene

No Data Available

Interacting Proteins for SPNS2 Gene

Gene Ontology (GO) - Biological Process for SPNS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001782 B cell homeostasis IEA --
GO:0002260 lymphocyte homeostasis IEA --
GO:0002920 regulation of humoral immune response IEA --
GO:0003376 sphingosine-1-phosphate signaling pathway IBA,IEA --
GO:0006665 sphingolipid metabolic process IEA --
genes like me logo Genes that share ontologies with SPNS2: view

No data available for Pathways by source and SIGNOR curated interactions for SPNS2 Gene

Drugs & Compounds for SPNS2 Gene

No Compound Related Data Available

Transcripts for SPNS2 Gene

Unigene Clusters for SPNS2 Gene

Spinster homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPNS2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - - - - -
SP2: - -
SP3: - - - - -
SP4: - - -
SP5: -
SP6: - - -
SP7:

Relevant External Links for SPNS2 Gene

GeneLoc Exon Structure for
SPNS2
ECgene alternative splicing isoforms for
SPNS2

Expression for SPNS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPNS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPNS2 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.9).

Protein differential expression in normal tissues from HIPED for SPNS2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPNS2 Gene



Protein tissue co-expression partners for SPNS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPNS2 Gene:

SPNS2

SOURCE GeneReport for Unigene cluster for SPNS2 Gene:

Hs.22824

Evidence on tissue expression from TISSUES for SPNS2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with SPNS2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPNS2 Gene

Orthologs for SPNS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPNS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPNS2 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPNS2 34 35
  • 91.8 (n)
dog
(Canis familiaris)
Mammalia SPNS2 34
  • 90.03 (n)
mouse
(Mus musculus)
Mammalia Spns2 34 16 35
  • 88.69 (n)
rat
(Rattus norvegicus)
Mammalia Spns2 34
  • 88.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPNS2 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPNS2 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPNS2 34 35
  • 79.54 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia spns2 34
  • 73.7 (n)
Str.18139 34
zebrafish
(Danio rerio)
Actinopterygii spns2 34 35
  • 69.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta spin 35
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea spin-1 35
  • 35 (a)
ManyToMany
spin-4 35
  • 35 (a)
ManyToMany
spin-2 35
  • 34 (a)
ManyToMany
spin-3 35
  • 33 (a)
ManyToMany
wheat
(Triticum aestivum)
Liliopsida Ta.28328 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5353 35
  • 28 (a)
OneToMany
Species where no ortholog for SPNS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SPNS2 Gene

ENSEMBL:
Gene Tree for SPNS2 (if available)
TreeFam:
Gene Tree for SPNS2 (if available)

Paralogs for SPNS2 Gene

Paralogs for SPNS2 Gene

(2) SIMAP similar genes for SPNS2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SPNS2: view

Variants for SPNS2 Gene

Sequence variations from dbSNP and Humsavar for SPNS2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000028433 -- 4,515,164(+) GGCTG(C/G)CTTCT intron-variant
rs1000084097 -- 4,524,110(+) AGGTG(C/T)GAAAT intron-variant
rs1000178303 -- 4,523,848(+) AAGCT(A/G)TGTTA intron-variant
rs1000246435 -- 4,529,157(+) TCTTG(A/T)ACTCC intron-variant
rs1000315884 -- 4,530,481(+) GGAGG(G/T)GGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPNS2 Gene

Variant ID Type Subtype PubMed ID
esv1003136 CNV gain 20482838
esv3639784 CNV gain 21293372
esv3639785 CNV gain 21293372
nsv1058176 CNV gain 25217958
nsv1116184 CNV deletion 24896259
nsv1144787 CNV deletion 24896259
nsv574269 CNV gain 21841781
nsv574272 CNV loss 21841781
nsv833345 CNV loss 17160897
nsv952109 CNV deletion 24416366

Variation tolerance for SPNS2 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPNS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPNS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPNS2 Gene

Disorders for SPNS2 Gene

Relevant External Links for SPNS2

Genetic Association Database (GAD)
SPNS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPNS2

No disorders were found for SPNS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPNS2 Gene

Publications for SPNS2 Gene

  1. Spinster 2, a sphingosine-1-phosphate transporter, plays a critical role in inflammatory and autoimmune diseases. (PMID: 26324848) Donoviel M.S. … Spiegel S. (FASEB J. 2015) 2 3 64
  2. The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors. (PMID: 19074308) Kawahara A. … Mochizuki N. (Science 2009) 3 4 64
  3. HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL, induces a caspase-independent autophagic cell death. (PMID: 12815463) Yanagisawa H. … Yamamoto D. (Cell Death Differ. 2003) 2 3 64
  4. Critical role of Spns2, a sphingosine-1-phosphate transporter, in lung cancer cell survival and migration. (PMID: 25330231) Bradley E. … Wang G. (PLoS ONE 2014) 3 64
  5. Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss. (PMID: 25356849) Chen J. … Steel K.P. (PLoS Genet. 2014) 3 64

Products for SPNS2 Gene

Sources for SPNS2 Gene

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