Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SPTBN5 Gene

protein-coding   GIFtS: 50
GCID: GC15M042140

Spectrin, Beta, Non-Erythrocytic 5

  See 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
Spectrin, Beta, Non-Erythrocytic 51 2     HUSPECV2 3
BSPECV2 3 5     Spectrin Beta Chain, Brain 42
Beta V Spectrin1 2     Spectrin Beta Chain, Non-Erythrocytic 52
Beta-V Spectrin2 3     Spectrin, Non-Erythroid Beta Chain 42
HUBSPECV2 3     

External Ids:    HGNC: 156801   Entrez Gene: 513322   Ensembl: ENSG000001378777   OMIM: 6059165   UniProtKB: Q9NRC63   

Export aliases for SPTBN5 gene to outside databases

Previous GC identifers: GC15M037508 GC15M035036 GC15M039719 GC15M039856 GC15M039927 GC15M018988


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

TryGeneCards Plus

GeneCards Summary for SPTBN5 Gene:
SPTBN5 (spectrin, beta, non-erythrocytic 5) is a protein-coding gene. Diseases associated with SPTBN5 include macular holes, and proliferative diabetic retinopathy. GO annotations related to this gene include actin binding and phospholipid binding. An important paralog of this gene is ACTN4.

Gene Wiki entry for SPTBN5 Gene


(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
Regulatory elements:
   Regulatory transcription factor binding sites in the SPTBN5 gene promoter:
         p53   AML1a   AP-1   Lmo2   E47   HEN1   PPAR-gamma1   HOXA5   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPTBN5 promoter sequence
   Search Chromatin IP Primers for SPTBN5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPTBN5


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

Entrez Gene cytogenetic band: 15q21   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q21

SPTBN5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTBN5 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M042140:  view genomic region     (about GC identifiers)

Start:
42,140,344 bp from pter      End:
42,186,275 bp from pter
Size:
45,932 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SPTN5_HUMAN, Q9NRC6 (See protein sequence)
Recommended Name: Spectrin beta chain, non-erythrocytic 5  
Size: 3674 amino acids; 416835 Da
Subunit: Probably associates with an alpha chain. Interacts (via C-terminus) with TRPC4

Explore the universe of human proteins at neXtProt for SPTBN5: NX_Q9NRC6

Explore proteomics data for SPTBN5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPTBN5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057726.4  
    ENSEMBL proteins: 
     ENSP00000317790  
    Reactome Protein details: Q9NRC6

    SPTBN5 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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SPTBN5
    GenScript Custom Purified and Recombinant Proteins Services for SPTBN5
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SPTBN5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SPTBN5
    OriGene Custom Antibody Services for SPTBN5
    Novus Biologicals SPTBN5 Antibody
    Abcam antibodies for SPTBN5
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for SPTBN5
    LSBio Antibodies in human, mouse, rat for SPTBN5

    SPTBN5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SPTBN5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPTBN5
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


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

    TryGeneCards Plus
    Selected InterPro protein domains (see all 6):
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR001849 Pleckstrin_homology
     IPR001589 Actinin_actin-bd_CS
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q9NRC6

    ProtoNet protein and cluster: Q9NRC6

    5 Blocks protein domains:
    IPB001589 Actin-binding
    IPB001605 Spectrin pleckstrin homology domain signature
    IPB001715 Calponin-like actin-binding
    IPB001849 Pleckstrin-like
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: SPTN5_HUMAN, Q9NRC6
    Similarity: Belongs to the spectrin family
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 1 PH domain
    Similarity: Contains 31 spectrin repeats


    SPTBN5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding NAS10764729
    GO:0005515protein binding ----
         
    SPTBN5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SPTBN5:
     Decreased nuclei size in G2M  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPTBN5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPTBN5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPTBN5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPTBN5

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPTBN5:
    hsa-mir-335-5p (MIRT018034), hsa-let-7f-5p (MIRT051390)

    Block miRNA regulation of human, mouse, rat SPTBN5 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SPTBN5
    SwitchGear 3'UTR luciferase reporter plasmidSPTBN5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPTBN5
    Predesigned siRNA for gene silencing in human, mouse, rat SPTBN5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPTBN5

    Clone
    Products:
         
    OriGene clones in human, mouse for SPTBN5 (see all 3)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPTBN5 (NM_016642)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTBN5
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN5

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SPTBN5
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPTBN5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN5


    (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
    SPTN5_HUMAN, Q9NRC6: Cytoplasm, cytoskeleton. Note=Detected prominently in the outer segments of photoreceptor
    rods and cones and in the basolateral membrane and cytosol of gastric epithelial cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0008091spectrin NAS10764729
    GO:0016020membrane NAS10764729

    SPTBN5 for ontologies           About GeneDecksing


    (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 SPTBN5 About    
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    3NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.59
    4Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SPTBN5
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions

    2 Reactome Pathways for SPTBN5
        Interaction between L1 and Ankyrins
    NCAM signaling for neurite out-growth



    SPTBN5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPTBN5
    Interactions:

        GeneGlobe Interaction Network for SPTBN5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SPTBN5 (Q9NRC63 ENSP000003177904) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLEKHA5Q9HAU03I2D: score=2 
    RANBP2P497923I2D: score=2 
    ANK1ENSP000002657094STRING: ENSP00000265709
    L1CAMENSP000003590744STRING: ENSP00000359074
    NFASCENSP000003531544STRING: ENSP00000353154
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007411axon guidance TAS--
    GO:0030036actin cytoskeleton organization NAS10764729
    GO:0051693actin filament capping IEA--

    SPTBN5 for ontologies           About GeneDecksing



    (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 SPTBN5 (SPTN5)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SPTBN5 gene: 
    NM_016642.3  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320955(uc001zos.3) ENST00000563899
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPTBN5 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SPTBN5
    SwitchGear 3'UTR luciferase reporter plasmidSPTBN5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPTBN5
    Predesigned siRNA for gene silencing in human, mouse, rat SPTBN5
    Clone
    Products:
         
    OriGene clones in human, mouse for SPTBN5 (see all 3)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPTBN5 (NM_016642)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTBN5
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN5
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTBN5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTBN5
      QuantiTect SYBR Green Assays in human, mouse, rat SPTBN5
      QuantiFast Probe-based Assays in human, mouse, rat SPTBN5

    Selected AceView cDNA sequences (see all 31):

    BF055283 BM710337 CA397858 AF233523 AI743728 BF221661 BM699324 BX100198 
    NM_016642 BM695591 BQ640120 R84914 BM669540 BF515053 AA599654 W95287 
    W95544 AI803545 BQ638295 BQ638767 AA020813 H87737 BQ636533 AA021475 

    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

    SPTBN5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCTTCTCA
    SPTBN5 Expression
    About this image

    SPTBN5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPTBN5 Protein Expression

    UniProtKB/Swiss-Prot: SPTN5_HUMAN, Q9NRC6
    Tissue specificity: Expressed at very low levels in many tissues, with strongest expression in cerebellum, spinal
    cord, stomach, pituitary gland, liver, pancreas, salivary gland, kidney, bladder, and heart

        Custom PCR Arrays for SPTBN5
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTBN5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTBN5
    QuantiTect SYBR Green Assays in human, mouse, rat SPTBN5
    QuantiFast Probe-based Assays in human, mouse, rat SPTBN5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN5

    (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 animals.

    Orthologs for SPTBN5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptbn51 , 5 spectrin beta 55
    spectrin beta, non-erythrocytic 51
    75.87(n)1
    65.83(a)1
      2 (60.11 cM)5
    6405241  XM_006500537.11  XP_006500600.11 
     1200461575 
    chicken
    (Gallus gallus)
    Aves SPTBN51 spectrin, beta, non-erythrocytic 5 56.26(n)
    46.19(a)
      423225  XM_421149.4  XP_421149.4 
    lizard
    (Anolis carolinensis)
    Reptilia SPTBN56
    spectrin, beta, non-erythrocytic 5
    43(a)
    1 ↔ 1
    1(40581229-40692736)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sptbn51 spectrin, beta, non-erythrocytic 5 54.32(n)
    43.93(a)
      100485263  XM_004917428.1  XP_004917485.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5695851 spectrin beta chain, non-erythrocytic 5-like 48.14(n)
    34.47(a)
      569585  XM_692983.4  XP_698075.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta kst1 karst 47.7(n)
    33.23(a)
      38418  NM_206266.3  NP_995988.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sma-11 sma-1 41.4(n)
    30.02(a)
      179629  NM_001269454.1  NP_001256383.1 


    ENSEMBL Gene Tree for SPTBN5 (if available)
    TreeFam Gene Tree for SPTBN5 (if available)

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

    TryGeneCards Plus
    Paralogs for SPTBN5 gene
    ACTN42  SPTBN22  SPTA12  SYNE22  SPTBN42  SPTB2  SPTBN12  ACTN22  
    SPTAN12  ACTN12  SYNE12  CLMN2  
    1 SIMAP similar gene for SPTBN5 using alignment to 1 protein entry:     SPTN5_HUMAN:
    DKFZp434J0328

    SPTBN5 for paralogs           About GeneDecksing



    (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 SPTBN5 (see all 1369)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926070091,2
    --42140964(+) AGCTGA/GCTGAC 1 -- int10--------
    rs1853455431,2
    --42140984(+) AGCAGC/TGACCA 1 -- int10--------
    rs577616841,2
    C,F--42140987(+) AGCGAC/TCACAG 1 -- int11Minor allele frequency- T:0.05WA 118
    rs1888738541,2
    --42140997(+) GTGACA/GCGTGA 1 -- int10--------
    rs40787881,2
    C,F,A--42140998(-) CTCACG/CCGTCA 1 -- int18Minor allele frequency- C:0.27NA WA CSA EA 367
    rs11976671,2
    C,F,O,A,H--42141114(-) CTCCTG/AAGGCT 1 -- int117Minor allele frequency- A:0.15NA NS EA WA CSA 855
    rs1403774731,2
    --42141145(+) CCTGTC/TCCGTC 1 -- int10--------
    rs1381340321,2
    C--42141152(+) GTCAG-/CAACA 
            
    CAACA
    1 -- int10--------
    rs37842821,2
    C,F--42141200(+) GAGCAG/CATGGT 1 -- int111Minor allele frequency- C:0.14EA NA WA CSA 2000
    rs1926149361,2
    --42141250(+) TATGAA/GCCCTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for SPTBN5 (42140344 - 42186275 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPTBN5 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663665CNV Deletion23128226
    nsv1506CNV Insertion18451855
    nsv904115CNV Loss21882294
    nsv904126CNV Loss21882294
    nsv904129CNV Loss21882294
    nsv517631CNV Loss19592680
    dgv2365n71CNV Loss21882294
    dgv2366n71CNV Loss21882294
    dgv2364n71CNV Loss21882294
    nsv904119CNV Loss21882294

    Human Gene Mutation Database (HGMD): SPTBN5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTBN5
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTBN5

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

    TryGeneCards Plus
    OMIM gene information: 605916    OMIM disorders: --

    6 diseases for SPTBN5:    
    About MalaCards
    macular holes    proliferative diabetic retinopathy    diabetic retinopathy    hypertension
    hiv-1    malaria

    1 disease from the University of Copenhagen DISEASES database for SPTBN5:
    Macular holes

    SPTBN5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPTBN5
    Human Genome Epidemiology (HuGE) Navigator: SPTBN5 (3 documents)

    Export disorders for SPTBN5 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 SPTBN5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPTBN5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of beta V spectrin, a mammalian ortholog of Drosophila beta H spectrin. (PubMed id 10764729)1, 2, 3, 9 Stabach P.R. and Morrow J.S. (J. Biol. Chem. 2000)
    2. The spectrin cytoskeleton influences the surface expression and activation of human transient receptor potential channel 4 channels. (PubMed id 18048348)1, 2, 9 Odell A.F.... Scott J.L. (J. Biol. Chem. 2008)
    3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (PubMed id 23704327)1 Papal S....El-Amraoui A. (Hum. Mol. Genet. 2013)
    7. Association of genetic variants with ischemic stroke in Japanese individuals with or without metabolic syndrome. (PubMed id 20043139)1 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    8. Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease. (PubMed id 12119179)1 Shoeman R.L....Traub P. (Cell Biol. Int. 2002)
    9. Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2. (PubMed id 8493579)1 Chardin P....Bar-Sagi D. (Science 1993)
    10. Differential expression of vitreous proteins in proliferative diabetic retinopathy. (PubMed id 16531280)9 Kim S.J....Kim Y. (Curr. Eye Res. 2006)

    (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: 51332 HGNC: 15680 AceView: SPTBN5 Ensembl:ENSG00000137877 euGenes: HUgn51332
    ECgene: SPTBN5 H-InvDB: SPTBN5

    (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 SPTBN5 Pharmacogenomics, SNPs, Pathways

    (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 SPTBN5 gene:
    Search GeneIP for patents involving SPTBN5

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, 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 SPTBN5   OriGene RNAi products in human, mouse, rat for SPTBN5  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SPTBN5  
     OriGene qSTAR qPCR primer pairs in human, mouse for SPTBN5   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SPTBN5   OriGene Custom Protein Services for SPTBN5  

     
     
     Block miRNA regulation of human, mouse, rat SPTBN5 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SPTBN5
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPTBN5 Predesigned siRNA for gene silencing in human, mouse, rat SPTBN5
     QuantiFast Probe-based Assays in human, mouse, rat SPTBN5 QuantiTect SYBR Green Assays in human, mouse, rat SPTBN5
     Custom PCR Arrays for SPTBN5 Search Chromatin IP Primers for SPTBN5
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTBN5  GeneGlobe Interaction Network for SPTBN5
     Regulatory tfbs in SPTBN5 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SPTBN5 GenScript cDNA clones with any tag delivered in your preferred vector for SPTBN5
     GenScript Custom Assay Services for SPTBN5 GenScript Custom overexpressing Cell Line Services for SPTBN5
     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 SPTBN5 (SPTN5)
     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
     SPTBN5 antibodies
     Antibodies for SPTBN5
     See all of Abcam's Antibodies, Kits and Proteins for SPTBN5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for SPTBN5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN5
     SwitchGear 3'UTR luciferase reporter plasmids for SPTBN5
     SwitchGear Promoter luciferase reporter plasmids for SPTBN5
     Search ThermoFisher Antibodies for SPTBN5
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN5
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPTBN5
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPTBN5
     LSBio Antibodies in human, mouse, rat for SPTBN5
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 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      SPTBN5 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4