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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPNS1 Gene

protein-coding   GIFtS: 46
GCID: GC16P028986

spinster homolog 1 (Drosophila)

 Explore 2 diseases affiliated with
SPNS1 via our new
 Human Malady Compendium 
Biological research products
for SPNS1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Spinster Homolog 1 (Drosophila)1 2     SPINL1 2
SPIN11 2 3 5     Nrs1
HSpin11 2 3     Spinster-Like Protein 12 3
LAT1 2     Protein Spinster Homolog 12
PP20301 2     

External Ids:    HGNC: 306211   Entrez Gene: 839852   Ensembl: ENSG000001696827   OMIM: 6125835   UniProtKB: Q9H2V73   

Export aliases for SPNS1 gene to outside databases

Previous GC identifers: GC16P028897 GC16P026853


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: SPNS1_HUMAN, Q9H2V7
Function: Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPNS1 gene promoter:
         AhR   ATF-2   c-Jun   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPNS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPNS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPNS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

SPNS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPNS1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P028986:  view genomic region     (about GC identifiers)

Start:
28,985,542 bp from pter      End:
28,995,869 bp from pter
Size:
10,328 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SPNS1_HUMAN, Q9H2V7 (See protein sequence)
Recommended Name: Protein spinster homolog 1  
Size: 528 amino acids; 56630 Da
Subunit: Interacts with BCL2 and BCL2L1
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein. Note=Colocalizes with SDHB
Sequence caution: Sequence=AAQ15259.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAQ15259.1; Type=Frameshift; Positions=97;
Secondary accessions: B5MDM9 Q6P182 Q71RB5 Q7L541 Q86VU7 Q8N953 Q8TCS5 Q9BRN5
Alternative splicing: 5 isoforms:  Q9H2V7-1   Q9H2V7-2   Q9H2V7-3   Q9H2V7-4   Q9H2V7-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPNS1: NX_Q9H2V7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H2V7

  • SPNS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001135920.1  NP_001135921.1  NP_001135922.1  NP_001135923.1  NP_114427.1  

    ENSEMBL proteins: 
     ENSP00000457011   ENSP00000455101   ENSP00000454360   ENSP00000309945   ENSP00000318228  
     ENSP00000335494   ENSP00000306050   ENSP00000456119   ENSP00000455429   ENSP00000455467  

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    Uscn Proteins for SPNS1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral to membrane IEA--


    SPNS1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SPNS1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR020846 MFS_dom
     IPR011701 MFS
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9H2V7

    ProtoNet protein and cluster: Q9H2V7

    UniProtKB/Swiss-Prot: SPNS1_HUMAN, Q9H2V7
    Similarity: Belongs to the major facilitator (TC 2.A.1) superfamily. Spinster (TC 2.A.1.49) family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SPNS1_HUMAN, Q9H2V7
    Function: Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12815463


    SPNS1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SPNS1:
     Increased cell number in G2M,  

    Animal Models:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Spns1):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  mortality/aging 

    SPNS1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPNS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for SPNS1 (Q9H2V71, 3 ENSP000003099454) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2L1Q078171, 3, ENSP000003025644EBI-1386527,EBI-78035 I2D: score=3 STRING: ENSP00000302564
    BCL2P104153, ENSP000003296234I2D: score=3 STRING: ENSP00000329623
    SDHBP219123, ENSP000003646494I2D: score=1 STRING: ENSP00000364649
    UNC93B1Q9H1C43, ENSP000002274714I2D: score=1 STRING: ENSP00000227471
    USP19O949663, ENSP000003818634I2D: score=1 STRING: ENSP00000381863
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport IEA--
    GO:0055085transmembrane transport IEA--


    SPNS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPNS1
    Search CenterWatch for drugs/clinical trials and news about SPNS1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPNS1 gene (5 alternative transcripts): 
    NM_001142448.1  NM_001142449.1  NM_001142450.1  NM_001142451.1  NM_032038.2  

    Unigene Cluster for SPNS1:

    Spinster homolog 1 (Drosophila)
    Hs.617449  [show with all ESTs]
    Unigene Representative Sequence: AK095677
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567771 ENST00000568388 ENST00000565975 ENST00000311008 ENST00000568900(uc002dry.2)
    ENST00000323081 ENST00000334536 ENST00000352260 ENST00000566059 ENST00000564476
    ENST00000561868 ENST00000568829

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    hsa-miR-142-3p hsa-miR-4300 hsa-miR-185* hsa-miR-187* hsa-miR-1283 hsa-miR-520d-5p hsa-miR-29a hsa-miR-29c
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF212371.1 AF370423.1 AK095677.1 AK289787.1 AL390215.1 BC006156.1 BC008325.1 BC038961.1 
    BC047741.1 BC065235.1 

    21 DOTS entries:

    DT.447886  DT.102843728  DT.102843702  DT.92442832  DT.100799766  DT.97821383  DT.92442826  DT.100799767 
    DT.120695442  DT.100799756  DT.120696548  DT.100033978  DT.100799754  DT.95165252  DT.120695431  DT.120695967 
    DT.95165250  DT.100843307  DT.75116538  DT.92442830  DT.95188558 

    24/322 AceView cDNA sequences (see all 322):

    BC008325 BQ682492 BC047741 BQ680985 CR596645 CF456794 CN483478 BI914630 
    CD671956 BI908409 BQ073033 CB995280 NM_032038 AI203927 BM967132 BG473116 
    BU196793 BU185783 BQ439640 BQ651598 BM703511 BM708041 CD671861 BU193905 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SPNS1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c
    SP1:                                -                                                                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                              -                                             
    SP4:        -     -     -     -     -     -                                                                                                                     
    SP5:                                      -                                                                                                                     


    ECgene alternative splicing isoforms for SPNS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPNS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTAGCTCAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SPNS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPNS1

    SOURCE GeneReport for Unigene cluster: Hs.617449
        SABiosciences Custom PCR Arrays for SPNS1
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPNS1 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spns11 , 5 spinster homolog 1 (Drosophila)5
    spinster homolog 11
    87.88(n)1
    93.56(a)1
      7 (69.01 cM)5
    736581  NM_023712.31  NP_076201.21 
     1263700605 
    lizard
    (Anolis carolinensis)
    Reptilia SPNS16
    --
    74(a)
    1 ↔ 1
    GL343287.1(620987-633406)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.166462 Xenopus laevis transcribed sequence with weak similarity more 76.56(n)    BJ072163.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spinl2 spinster-like 75.67(n)   170963  BC048024.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spin1 spinster 55.61(n)
    54.4(a)
      45380  NM_166145.1  NP_725531.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C13C4.51 Protein C13C4.5 47.28(n)
    45.15(a)
      179662  NM_073640.3  NP_506041.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G656871 major facilitator protein 39.8(n)
    33.42(a)
      836697  NM_148164.4  NP_680469.1 
    rice
    (Oryza sativa)
    Liliopsida --
    transporter, major facilitator family, putative, e...
    19(a)
    1 → many
    4(26114305-26122622)


    ENSEMBL Gene Tree for SPNS1 (if available)
    TreeFam Gene Tree for SPNS1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPNS1 gene
    SPNS32  SPNS22  
    2 SIMAP similar genes for SPNS1 using alignment to 7 protein entries:     SPNS1_HUMAN (see all proteins):
    SPNS2    SPNS3

    SPNS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/167 NCBI SNPs in SPNS1 are shown (see all 167    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs118639811,2
    C,F,A,H,--28984604(+) TGAAAG/CCCCAT 5 -- us2k14Minor allele frequency- C:0.33NA WA CSA EA 126
    rs1429644641,2
    --28984617(+) CTACCA/CAAAAT 5 -- us2k10--------
    rs118616491,2
    C,H,--28984672(+) ctactC/Tgggag 5 -- us2k12Minor allele frequency- T:0.25NA CSA 4
    rs118648291,2
    C,F,H,--28984769(+) tgacaG/Aagcaa 5 -- us2k13Minor allele frequency- A:0.50WA NA CSA 8
    rs1921080651,2
    --28984806(+) AGAAAA/GAAAAA 5 -- us2k10--------
    rs1503301141,2
    --28984939(+) TAAGCC/TCCACG 5 -- us2k10--------
    rs116426381,2
    C,F,A,H,--28984945(+) CCACGA/CGGGAA 5 -- us2k1 trp321Minor allele frequency- C:0.20NS EA NA WA 2760
    rs1167257401,2
    C,--28985110(+) TGGGGG/TGGGGG 5 -- us2k10--------
    rs1876280181,2
    C--28985113(+) GGGGGC/GGGGGG 5 -- us2k10--------
    rs753315531,2
    C--28985115(+) GGGGGG/CGGGGG 5 -- us2k11Minor allele frequency- C:0.50NA 2

    HapMap Linkage Disequilibrium report for SPNS1 (28985542 - 28995869 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SPNS1
         1 CNV: 3999

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SPNS1 for disorders           About GeneDecksing

    OMIM gene information: 612583    OMIM disorders: --

    2 diseases for SPNS1:    About MalaCards
    hepatitis c    hepatitis


    Export disorders for SPNS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPNS1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with SPNS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL, induces a caspase-independent autophagic cell death. (PubMed id 12815463)1, 2, 3 Yanagisawa H.... Yamamoto D. (2003)
    2. Mutations in the novel membrane protein spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster. (PubMed id 11340170)1, 2, 3 Nakano Y.... Yamamoto D. (2001)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Polymorphisms in sh2b1 and spns1 loci are associated w ith triglyceride levels in a healthy population in northern Sweden. (PubMed id 22942098)1 Vastermark A....Schioth H.B. (2012)
    5. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83985 HGNC: 30621 AceView: SPINL Ensembl:ENSG00000169682 euGenes: HUgn83985
    ECgene: SPNS1 H-InvDB: SPNS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPNS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPNS1 gene:
    Search GeneIP for patents involving SPNS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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