Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SSPN Gene

protein-coding   GIFtS: 54
GCID: GC12P026275

Sarcospan

(Previous name: Kras oncogene-associated gene)
(Previous symbol: KRAG)
  See SSPN-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
sarcospan1 2     SPN12
KRAG1 2 3 5     SPN22
Kirsten-Ras-Associated Protein2 3     Kras Oncogene-Associated2
K-Ras Oncogene-Associated Protein2 3     microspan2
Kras Oncogene-Associated Gene1     nanospan2
DAGA52     Sarcospan (Kras Oncogene-Associated Gene)2
NSPN2     

External Ids:    HGNC: 113221   Entrez Gene: 80822   Ensembl: ENSG000001230967   OMIM: 6015995   UniProtKB: Q147143   

Export aliases for SSPN gene to outside databases

Previous GC identifers: GC12P026709 GC12P026359 GC12P026248 GC12P026239 GC12P026348 GC12P026118


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

TryGeneCards Plus

Entrez Gene summary for SSPN Gene:
This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is
comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a
structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two
alternatively spliced transcript variants that encode different protein isoforms have been described. (provided
by RefSeq, Oct 2008)

GeneCards Summary for SSPN Gene:
SSPN (sarcospan) is a protein-coding gene. Diseases associated with SSPN include adrenal carcinoma, and sarcoglycanopathies.

UniProtKB/Swiss-Prot: SSPN_HUMAN, Q14714
Function: Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane
and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with
the sarcoglycan subcomplex of the DGC




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_009714.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the SSPN gene promoter:
         S8   Zic1   LHX3a/Lhx3a   Cart-1   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SSPN promoter sequence
   Search Chromatin IP Primers for SSPN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SSPN


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

Entrez Gene cytogenetic band: 12p11.2   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p11.2

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P026275:  view genomic region     (about GC identifiers)

Start:
26,274,924 bp from pter      End:
26,452,223 bp from pter
Size:
177,300 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SSPN_HUMAN, Q14714 (See protein sequence)
Recommended Name: Sarcospan  
Size: 243 amino acids; 26618 Da
Secondary accessions: B3KS67
Alternative splicing: 3 isoforms:  Q14714-1   Q14714-2   Q14714-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SSPN: NX_Q14714

Explore proteomics data for SSPN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SSPN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129295.1  NP_005077.2  

    ENSEMBL proteins: 
     ENSP00000445360   ENSP00000442893   ENSP00000396087   ENSP00000242729   ENSP00000438801  

    SSPN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for SSPN
    Browse OriGene Protein Over-expression Lysates
    OriGene MassSpec for SSPN
    OriGene Custom Protein Services for SSPN
    GenScript Custom Purified and Recombinant Proteins Services for SSPN
    Novus Biologicals SSPN Protein
    Novus Biologicals SSPN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SSPN

     
    Search eBioscience for Proteins for SSPN 

     
    antibodies-online proteins for SSPN (2 products) 

     
    antibodies-online peptides for SSPN

    SSPN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SSPN
    OriGene Custom Antibody Services for SSPN
    Novus Biologicals SSPN Antibodies
    Search for Antibodies for SSPN at Abcam
    Cloud-Clone Corp. Antibodies for SSPN
    Search ThermoFisher Antibodies for SSPN
    antibodies-online antibodies for SSPN (11 products) 

    SSPN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SSPN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SSPN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SSPN
    Cloud-Clone Corp. CLIAs for SSPN
    Search eBioscience for ELISAs for SSPN 
    antibodies-online kits for SSPN (6 products) 


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

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR007237 CD20-like

    Graphical View of Domain Structure for InterPro Entry Q14714

    ProtoNet protein and cluster: Q14714


    Find genes that share domains with SSPN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SSPN_HUMAN, Q14714
    Function: Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane
    and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with
    the sarcoglycan subcomplex of the DGC

         Genatlas biochemistry entry for SSPN:
    sarcospan,dystrophin associated glycoprotein,25kDa,expressed and spanning in the sarcolemma,complexing with
    sarcoglycans in a stoichiometrically equal complex,expressed in skeletal muscle and in vascular smooth
    muscle,stabilizing the link between dystroglycan and dystrophin/utrophin

    Phenotypes:
         1 GenomeRNAi human phenotype for SSPN:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sspn):
     growth/size/body  homeostasis/metabolism  mortality/aging  muscle  skeleton 

    Find genes that share phenotypes with SSPN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sspntm1Kcam for SSPN

       genOway: Develop your customized and physiologically relevant rodent model for SSPN

    miRNA
    Products:
        
    miRTarBase miRNAs that target SSPN:
    hsa-mir-335-5p (MIRT018051)

    Block miRNA regulation of human, mouse, rat SSPN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SSPN (see all 67):
    hsa-miR-411* hsa-miR-579 hsa-miR-1321 hsa-miR-607 hsa-miR-374a hsa-miR-10b* hsa-miR-508-5p hsa-miR-4326
    SwitchGear 3'UTR luciferase reporter plasmidSSPN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SSPN
    Predesigned siRNA for gene silencing in human, mouse, rat SSPN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SSPN

    Clone
    Products:
         
    OriGene clones in human, mouse for SSPN (see all 9)
    OriGene ORF clones in mouse, rat for SSPN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SSPN (NM_005086)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SSPN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SSPN

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SSPN
    Browse ESI BIO Cell Lines and PureStem Progenitors for SSPN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SSPN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    SSPN_HUMAN, Q14714: Cell membrane; Multi-pass membrane protein (By similarity). Cell membrane, sarcolemma (By
    similarity). Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein (By similarity).
    Note=Also found in myotendinous junctions and in the postsynaptic membrane of neuromuscular junctions (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9395445
    GO:0016010dystrophin-associated glycoprotein complex TAS9395445
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--
    GO:0030133transport vesicle IDA--

    Find genes that share ontologies with SSPN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for SSPN About    
    See pathways by source

    SuperPathContained pathways About
    1Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    Muscular Dystrophies and Dystrophin-Glycoprotein Complex

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SSPN
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SSPN
    Interactions:

        Search GeneGlobe Interaction Network for SSPN

    1 Interacting protein for SSPN (Q147143) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGCGQ133263I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS9395445
    GO:0007155cell adhesion TAS9395445

    Find genes that share ontologies with SSPN           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SSPN



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SSPN gene (2 alternative transcripts): 
    NM_001135823.1  NM_005086.4  

    Unigene Cluster for SSPN:

    Sarcospan
    Hs.183428  [show with all ESTs]
    Unigene Representative Sequence: NM_005086
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000538142 ENST00000534829 ENST00000539019(uc001rhc.3) ENST00000540266
    ENST00000422622(uc001rhd.3) ENST00000544231 ENST00000242729(uc001rhe.3 uc009zjf.2 uc001rhf.3)
    ENST00000535504
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SSPN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SSPN (see all 67):
    hsa-miR-411* hsa-miR-579 hsa-miR-1321 hsa-miR-607 hsa-miR-374a hsa-miR-10b* hsa-miR-508-5p hsa-miR-4326
    SwitchGear 3'UTR luciferase reporter plasmidSSPN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SSPN
    Predesigned siRNA for gene silencing in human, mouse, rat SSPN
    Clone
    Products:
         
    OriGene clones in human, mouse for SSPN (see all 9)
    OriGene ORF clones in mouse, rat for SSPN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SSPN (NM_005086)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SSPN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SSPN
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SSPN
    OriGene qSTAR qPCR primer pairs in human, mouse for SSPN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SSPN
      QuantiTect SYBR Green Assays in human, mouse, rat SSPN
      QuantiFast Probe-based Assays in human, mouse, rat SSPN

    Additional mRNA sequence: 

    AF016028.2 AK092925.1 AK304667.1 AK314353.1 AL122041.1 AL136756.1 BC062299.1 DQ897666.1 
    EU433933.1 X89105.1 

    11 DOTS entries:

    DT.91976177  DT.95154373  DT.415231  DT.121206112  DT.121205996  DT.121206130  DT.121206144  DT.95156737 
    DT.214729  DT.75119332  DT.91641341 

    Selected AceView cDNA sequences (see all 138):

    BP374291 AA569999 N53732 R14535 H88606 AI014931 NM_005086 AA922282 
    BM713828 R72445 X89105 BQ889590 AA044120 AA620859 AA317228 H88605 
    AA992186 BQ446900 BC062299 AL136756 AW089160 AF016028 BP374200 AA740902 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SSPN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGAGGTGG
    SSPN Expression
    About this image


    SSPN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
    SSPN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SSPN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.183428

    UniProtKB/Swiss-Prot: SSPN_HUMAN, Q14714
    Tissue specificity: Isoform 1 is expressed exclusively in heart and skeletal muscle. Isoform 2 is expressed in
    heart, skeletal muscle, thymus, prostate, testis, ovary, small intestine, colon and spleen

        Custom PCR Arrays for SSPN
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SSPN
    OriGene qSTAR qPCR primer pairs in human, mouse for SSPN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SSPN
    QuantiTect SYBR Green Assays in human, mouse, rat SSPN
    QuantiFast Probe-based Assays in human, mouse, rat SSPN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SSPN

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for SSPN gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sspn1 , 5 sarcospan1, 5 83.41(n)1
    84.98(a)1
      6 (77.70 cM)5
    166511  NM_010656.21  NP_034786.11 
     1459316415 
    chicken
    (Gallus gallus)
    Aves SSPN1 sarcospan 68.46(n)
    62.81(a)
      418211  XM_416438.4  XP_416438.1 
    lizard
    (Anolis carolinensis)
    Reptilia SSPN6
    sarcospan
    63(a)
    1 ↔ 1
    5(90723819-90734871)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.289362 Xenopus laevis transcribed sequence with weak similarity more 74.83(n)    CD362597.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sspn1 sarcospan (Kras oncogene-associated gene) 56.41(n)
    45.51(a)
      641583  NM_001037580.1  NP_001032669.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for SSPN gene
    1 SIMAP similar gene for SSPN using alignment to 3 protein entries:     SSPN_HUMAN (see all proteins):
    NSPN

    Find genes that share paralogs with SSPN           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SSPN (see all 837)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs777943831,2
    C--26127378(+) CAAAG-/TATCT/TA
    TCTGATGCAAA
    GTGGC
    2 -- int10--------
    rs30823391,2
    C--26135984(+) TTTTT-/T/TT  
            
    CCAGA
    2 -- int1 trp30--------
    rs339809101,2
    C--26137749(+) AAAAA-/TACACA 2 -- int10--------
    rs753972451,2
    C--26143991(+) TCATTC/TCTCAG 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1849753781,2
    --26215053(+) AATACA/TCAGTA 1 -- us2k10--------
    rs614253381,2
    C,F--26215110(+) GTCAAT/ATGACT 1 -- us2k13Minor allele frequency- A:0.21WA 122
    rs1416697141,2
    --26215398(+) TGTATC/TTGTTC 2 -- us2k10--------
    rs169303251,2
    C--26215434(+) TCCAGA/GTGGAA 2 -- us2k1 tfbs34Minor allele frequency- G:0.03NA WA 260
    rs772633261,2
    C,F--26215487(+) AAGTAC/TATACT 2 -- us2k11Minor allele frequency- T:0.03NA 120
    rs38091381,2
    C,F--26215609(-) TGCTAT/ATGGAA 2 -- us2k1 tfbs38Minor allele frequency- A:0.23NA WA EA 504

    HapMap Linkage Disequilibrium report for SSPN (26274924 - 26452223 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SSPN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv648CNV Loss18451855

    Locus Specific Mutation Databases (LSDB): SSPN

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SSPN
    DNA2.0 Custom Variant and Variant Library Synthesis for SSPN

    (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

    TryGeneCards Plus
    OMIM gene information: 601599    OMIM disorders: --

    3 diseases for SSPN:    
    About MalaCards
    adrenal carcinoma    sarcoglycanopathies    fukuyama congenital muscular dystrophy

    1 disease from the University of Copenhagen DISEASES database for SSPN:
    Muscular dystrophy

    Find genes that share disorders with SSPN           About GenesLikeMe

    Genetic Association Database (GAD): SSPN
    Human Genome Epidemiology (HuGE) Navigator: SSPN (7 documents)

    Export disorders for SSPN 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

    TryGeneCards Plus

    PubMed articles for SSPN gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with SSPN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Coamplification in tumors of KRAS2, type 2 inositol 1,4,5 triphosphate receptor gene, and a novel human gene, KRAG. (PubMed id 8661122)1, 2, 3, 9 Heighway J.... Cowen R. (Genomics 1996)
    2. Sarcospan, the 25-kDa transmembrane component of the dystrophin- glycoprotein complex. (PubMed id 9395445)1, 2, 3 Crosbie R.H.... Campbell K.P. (J. Biol. Chem. 1997)
    3. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (PubMed id 20935629)1, 4 Heid I.M....Lindgren C.M. (Nat. Genet. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Risk for K-ras gene mutations in smoking-induced lung cancer is associated with cytochrome P4501A1 and glutathione S-transferase micro1 polymorphisms. (PubMed id 15375499)1, 4 Noda N....Shirakusa T. (Oncol. Rep. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. K-ras mutation in helicobacter pylori-associated chronic gastritis in patients with and without gastric cancer. (PubMed id 11807778)1, 4 Hiyama T....Chayama K. (Int. J. Cancer 2002)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    10. Glutathione S-transferase mu1 null genotype is associated with K-ras gene mutation in lung adenocarcinoma among smokers. (PubMed id 11470766)1, 4 Matsuzoe D....Kimura A. (Carcinogenesis 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 8082 HGNC: 11322 AceView: SSPN Ensembl:ENSG00000123096 euGenes: HUgn8082
    ECgene: SSPN H-InvDB: SSPN

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SSPN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SSPN Genetics and Cytogenetics in Oncology and Haematology
    LEIDEN Muscular Dystrophy page for SSPN Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SSPN gene:
    Search GeneIP for patents involving SSPN

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SSPN   OriGene RNAi products in human, mouse, rat for SSPN  
     OriGene qPCR primer pairs and template standards for SSPN   Browse OriGene Protein Over-expression Lysates  
     OriGene MassSpec for SSPN   OriGene clones in human, mouse for SSPN  
     OriGene qSTAR qPCR primer pairs in human, mouse for SSPN   OriGene Purified Protein for SSPN  
     OriGene ORF clones in mouse, rat for SSPN   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SSPN   OriGene Custom Protein Services for SSPN  

     
     
     Block miRNA regulation of human, mouse, rat SSPN using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SSPN
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SSPN Predesigned siRNA for gene silencing in human, mouse, rat SSPN
     QuantiFast Probe-based Assays in human, mouse, rat SSPN QuantiTect SYBR Green Assays in human, mouse, rat SSPN
     Custom PCR Arrays for SSPN Search Chromatin IP Primers for SSPN
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SSPN  Search GeneGlobe Interaction Network for SSPN
     Regulatory tfbs in SSPN promoter
     GenScript Custom Purified and Recombinant Proteins Services for SSPN GenScript cDNA clones with any tag delivered in your preferred vector for SSPN
     GenScript Custom Assay Services for SSPN GenScript Custom overexpressing Cell Line Services for SSPN
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SSPN
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SSPN antibodies
     SSPN proteins
     SSPN lysates
     Search for Antibodies for SSPN at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SSPN
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SSPN
     Antibodies for SSPN
     ELISAs for SSPN
     CLIAs for SSPN



     Browse ESI BIO Cell Lines and PureStem Progenitors for SSPN
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SSPN
     SwitchGear 3'UTR luciferase reporter plasmids for SSPN
     SwitchGear Promoter luciferase reporter plasmids for SSPN
     Search ThermoFisher Antibodies for SSPN
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SSPN
     Browse compounds at ApexBio
     Search Addgene for plasmids for SSPN
      Search eBioscience for proteins for SSPN
      Search eBioscience for elisas for SSPN
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for SSPN
     antibodies-online antibodies for SSPN (11 products)
     antibodies-online kits for SSPN (6 products)
     antibodies-online peptides for SSPN
     antibodies-online proteins for SSPN (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SSPN gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4