Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SPTBN4 Gene

protein-coding   GIFtS: 56
GCID: GC19P040973

Spectrin, Beta, Non-Erythrocytic 4

  Try our

disease database 

(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 41 2     SPNB42
Beta-IV Spectrin2 3     Spectrin Beta Chain, Brain 32
Spectrin, Non-Erythroid Beta Chain 32 3     Spectrin Beta Chain, Non-Erythrocytic 42
SPTBN32 3     KIAA16423
QV2 5     

External Ids:    HGNC: 148961   Entrez Gene: 577312   Ensembl: ENSG000001604607   OMIM: 6062145   UniProtKB: Q9H2543   

Export aliases for SPTBN4 gene to outside databases

Previous GC identifers: GC19P041612 GC19P041364 GC19P045649 GC19P045664 GC19P045663 GC19P037385


(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 SPTBN4 Gene:
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin
cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and
organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is
one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear
bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific
membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SPTBN4 Gene:
SPTBN4 (spectrin, beta, non-erythrocytic 4) is a protein-coding gene. GO annotations related to this gene include phospholipid binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTN4.

Gene Wiki entry for SPTBN4 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
RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPTBN4 gene promoter:
         Bach1   NF-1   NF-1/L   MyoD   XBP-1   c-Ets-1   N-Myc   Ik-2   SEF-1 (1)   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SPTBN4 promoter sequence
   Search Chromatin IP Primers for SPTBN4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPTBN4


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

Entrez Gene cytogenetic band: 19q13.13   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.13

SPTBN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTBN4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P040973:  view genomic region     (about GC identifiers)

Start:
40,972,148 bp from pter      End:
41,082,370 bp from pter
Size:
110,223 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: SPTN4_HUMAN, Q9H254 (See protein sequence)
Recommended Name: Spectrin beta chain, non-erythrocytic 4  
Size: 2564 amino acids; 288985 Da
Secondary accessions: E9PGQ5 Q9H1K7 Q9H1K8 Q9H1K9 Q9H253 Q9H3G8 Q9HCD0
Alternative splicing: 5 isoforms:  Q9H254-1   Q9H254-2   Q9H254-3   Q9H254-4   Q9H254-5   

Explore the universe of human proteins at neXtProt for SPTBN4: NX_Q9H254

Explore proteomics data for SPTBN4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys69
  • Modification sites at PhosphoSitePlus

  • See SPTBN4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_066022.2  NP_079489.2  

    ENSEMBL proteins: 
     ENSP00000470693   ENSP00000263373   ENSP00000469242   ENSP00000472136   ENSP00000375877  
     ENSP00000340345   ENSP00000340741   ENSP00000375879  
    Reactome Protein details: Q9H254

    SPTBN4 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 SPTBN4
    GenScript Custom Purified and Recombinant Proteins Services for SPTBN4
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SPTBN4 

     
    Search antibodies-online for proteins for SPTBN4 

     
    Search antibodies-online for peptides for SPTBN4

    SPTBN4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SPTBN4
    OriGene Custom Antibody Services for SPTBN4
    Novus Biologicals SPTBN4 Antibody
    Abcam antibodies for SPTBN4
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for SPTBN4
    antibodies-online antibodies for SPTBN4 (3 products) 

    SPTBN4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SPTBN4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPTBN4
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SPTBN4 
    antibodies-online kits for SPTBN4 (10 products) 


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

    TryGeneCards Plus
    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing

    Selected InterPro protein domains (see all 8):
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR001849 Pleckstrin_homology
     IPR001589 Actinin_actin-bd_CS
     IPR016343 Spectrin_bsu

    Graphical View of Domain Structure for InterPro Entry Q9H254

    ProtoNet protein and cluster: Q9H254

    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: SPTN4_HUMAN, Q9H254
    Similarity: Belongs to the spectrin family
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 1 PH domain
    Similarity: Contains 18 spectrin repeats


    Find genes that share domains with SPTBN4           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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS11086001
    GO:0005200structural constituent of cytoskeleton TAS11294830
    GO:0005515protein binding IPI11086001
    GO:0005543phospholipid binding IEA--
    GO:0019902phosphatase binding IPI11086001
         
    Find genes that share ontologies with SPTBN4           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 15 alleles(MGI details for Sptbn4):
     behavior/neurological  growth/size/body  hearing/vestibular/ear  mortality/aging  muscle 
     nervous system  reproductive system  vision/eye 

    Find genes that share phenotypes with SPTBN4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SPTBN4: Sptbn4tm1Mkom Sptbn4tm1Msol

       genOway: Develop your customized and physiologically relevant rodent model for SPTBN4

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SPTBN4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPTBN4 (see all 56):
    hsa-miR-19b-2* hsa-let-7d hsa-miR-765 hsa-miR-25 hsa-miR-486-3p hsa-miR-3921 hsa-miR-3916 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSPTBN4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPTBN4
    Predesigned siRNA for gene silencing in human, mouse, rat SPTBN4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPTBN4

    Clone
    Products:
         
    OriGene clones in human, mouse for SPTBN4 (see all 11)
    OriGene ORF clones in mouse, rat for SPTBN4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPTBN4 (NM_020971)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTBN4
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SPTBN4
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPTBN4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN4


    (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
    SPTN4_HUMAN, Q9H254: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    plasma membrane3
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ISS--
    GO:0005912adherens junction ISS--
    GO:0008091spectrin ISS--

    Find genes that share ontologies with SPTBN4           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 SPTBN4 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


    Find genes that share SuperPaths with SPTBN4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SPTBN4
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions

    2 Reactome Pathways for SPTBN4
        Interaction between L1 and Ankyrins
    NCAM signaling for neurite out-growth


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPTBN4
    Interactions:

        GeneGlobe Interaction Network for SPTBN4

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

    Selected Interacting proteins for SPTBN4 (Q9H2541, 2, 3 ENSP000002633734) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI51, 3, ENSP000003555964EBI-308543,EBI-529989 I2D: score=3 STRING: ENSP00000355596
    PTPRNQ168491, 3, ENSP000002957184EBI-308543,EBI-728153 I2D: score=2 STRING: ENSP00000295718
    CDC37Q165432, 3MINT-8250999 I2D: score=2 
    CENPUQ71F232, 3MINT-8263258 I2D: score=2 
    GADD45AP245222, 3MINT-8256059 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002028regulation of sodium ion transport ISS--
    GO:0007016cytoskeletal anchoring at plasma membrane TAS11086001
    GO:0007409axonogenesis ISS--
    GO:0007411axon guidance TAS--
    GO:0007605sensory perception of sound ISS--

    Find genes that share ontologies with SPTBN4           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 SPTBN4 (SPTN4)

    1 Novoseek inferred chemical compound relationship for SPTBN4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 42 4 18599536 (1), 17548513 (1), 16566914 (1), 14757759 (1)



    Find genes that share compounds with SPTBN4           About GenesLikeMe



    (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 SPTBN4 gene (2 alternative transcripts): 
    NM_020971.2  NM_025213.2  

    Unigene Cluster for SPTBN4:

    Spectrin, beta, non-erythrocytic 4
    Hs.32706  [show with all ESTs]
    Unigene Representative Sequence: AF082075
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000595535 ENST00000352632(uc002ony.3 uc002onz.3 uc010egx.3)
    ENST00000598249 ENST00000598775 ENST00000597389 ENST00000392023(uc010egy.1 uc002ooa.3 uc010egz.1)
    ENST00000596900 ENST00000593932 ENST00000599926 ENST00000593816 ENST00000596411
    ENST00000595690 ENST00000338932(uc002onx.3) ENST00000344104 ENST00000392025

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPTBN4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPTBN4 (see all 56):
    hsa-miR-19b-2* hsa-let-7d hsa-miR-765 hsa-miR-25 hsa-miR-486-3p hsa-miR-3921 hsa-miR-3916 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSPTBN4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPTBN4
    Predesigned siRNA for gene silencing in human, mouse, rat SPTBN4
    Clone
    Products:
         
    OriGene clones in human, mouse for SPTBN4 (see all 11)
    OriGene ORF clones in mouse, rat for SPTBN4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPTBN4 (NM_020971)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTBN4
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTBN4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTBN4
      QuantiTect SYBR Green Assays in human, mouse, rat SPTBN4
      QuantiFast Probe-based Assays in human, mouse, rat SPTBN4

    Additional mRNA sequence: 

    AB046862.1 AF082075.1 AF311855.1 AF311856.1 AF324063.1 AF324064.1 AK308547.1 AK309418.1 
    AL133093.1 AY004227.1 

    9 DOTS entries:

    DT.101981216  DT.40313564  DT.91822049  DT.95270030  DT.121504976  DT.100836555  DT.40281113  DT.91756423 
    DT.99987122 

    Selected AceView cDNA sequences (see all 57):

    AF082075 AL133093 AB046862 AF311855 BM701901 BM142190 CR613374 BX333733 
    AK054915 AI365123 AF324063 NM_025213 AI962525 AF311856 BF059517 AF324064 
    AY004226 AY004227 NM_020971 BI818771 AA001040 BX488034 BX952957 CA950112 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN4 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ·
    SP1:                                                        -     -                       -                                                                     
    SP2:                                                                                      -                                                                     
    SP3:                                                                                                                                            -               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20c ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b · 27c
    SP1:                                                                                    
    SP2:                                                                                    
    SP3:  -                                                                                 
    SP4:                                                                                    
    SP5:                                            -                 -                     


    ECgene alternative splicing isoforms for SPTBN4

    (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

    SPTBN4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGCCTGGA
    SPTBN4 Expression
    About this image

    SPTBN4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPTBN4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.32706

    UniProtKB/Swiss-Prot: SPTN4_HUMAN, Q9H254
    Tissue specificity: Abundantly expressed in brain and pancreatic islets

        Custom PCR Arrays for SPTBN4
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTBN4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTBN4
    QuantiTect SYBR Green Assays in human, mouse, rat SPTBN4
    QuantiFast Probe-based Assays in human, mouse, rat SPTBN4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN4

    (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 SPTBN4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptbn41 , 5 spectrin beta 45
    spectrin beta, non-erythrocytic 41
    88.56(n)1
    95.62(a)1
      7 (15.88 cM)5
    802971  NM_032610.21  NP_115999.21 
     273563835 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    39(a)
    many ↔ many
    JH375526.1(21-6218)
    lizard
    (Anolis carolinensis)
    Reptilia SPTBN46
    spectrin, beta, non-erythrocytic 4
    66(a)
    1 ↔ 1
    LGf(2000768-2083568)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sptbn41 spectrin, beta, non-erythrocytic 4 64.69(n)
    66.11(a)
      100488521  XM_002938815.2  XP_002938861.2 
    zebrafish
    (Danio rerio)
    Actinopterygii SPTBN4 (3 of 3)6
    SPTBN4 (2 of 3)6
    (see all 3)
    spectrin, beta, non-erythrocytic 4
    (see all 3)
    63(a)
    54(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    18(44507676-44544380) ENSDARG00000092624
    18(44442197-44480261) ENSDARG00000087594
    fruit fly
    (Drosophila melanogaster)
    Insecta beta-Spec6
    beta Spectrin
    43(a)
    1 → many
    X(17551454-17563270)
    worm
    (Caenorhabditis elegans)
    Secernentea M116.53   -- 43(a)   IV(8414779-8421194)   --


    ENSEMBL Gene Tree for SPTBN4 (if available)
    TreeFam Gene Tree for SPTBN4 (if available)

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

    TryGeneCards Plus
    Paralogs for SPTBN4 gene
    ACTN42  SPTBN22  SPTA12  SYNE22  SPTB2  SPTBN12  ACTN22  SPTBN52  
    SPTAN12  ACTN12  SYNE12  CLMN2  
    16 SIMAP similar genes for SPTBN4 using alignment to 5 protein entries:     SPTN4_HUMAN (see all proteins):
    DKFZp434J0328    SPNB4    MACF1    HSpTB1    SPTBN2    DMD
    SPTB    ACTN1    SPTBN1    CLMN    ACF7    ACTN4
    ACTN2    DST    ACTN3    SYNE2

    Find genes that share paralogs with SPTBN4           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 SPTBN4 (see all 2736)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1431910891,2
    C--37383963(+) AAGTG-/CTTAAT 1 -- int10--------
    rs1136980221,2
    C,F--37384004(+) GACAGG/CGTCTC 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs621094971,2
    C,F--37384120(+) ATTACC/TACCAC 1 -- int15Minor allele frequency- T:0.08NA WA EA 362
    rs1471649391,2
    --37384122(+) TACCAA/CCACAC 1 -- int10--------
    rs745950281,2
    C,F--37384214(+) CCCTGT/CTGGGG 1 -- int11Minor allele frequency- C:0.01NA 120
    rs777893801,2
    F--37384218(+) GTTGGG/TGAACC 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1851774541,2
    --37384297(+) CCCAAC/GAGTAG 1 -- int10--------
    rs1404021171,2
    --37384307(+) GGAAAA/GGGGCC 1 -- int10--------
    rs1165058021,2
    F--37384320(+) TCTCAT/GTCCCT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1466296631,2
    C--37384449(+) CCCCG-/CCCCCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for SPTBN4 (40972148 - 41082370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPTBN4 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718565CNV Deletion23290073
    esv2667159CNV Deletion23128226
    esv2676684CNV Deletion23128226
    esv1007999CNV Deletion20482838
    nsv138059CNV Insertion16902084
    dgv3867n71CNV Loss21882294
    nsv911718CNV Loss21882294
    nsv911711CNV Loss21882294
    dgv3870n71CNV Loss21882294
    dgv3869n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTBN4
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTBN4

    (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: 606214    OMIM disorders: --


    Find genes that share disorders with SPTBN4           About GenesLikeMe

    Genetic Association Database (GAD): SPTBN4
    Human Genome Epidemiology (HuGE) Navigator: SPTBN4 (3 documents)

    Export disorders for SPTBN4 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 SPTBN4 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with SPTBN4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BetaIV spectrin, a new spectrin localized at axon initial segments and nodes of Ranvier in the central and peripheral nervous system. (PubMed id 11086001)1, 2, 3, 9 Berghs S....Solimena M. (J. Cell Biol. 2000)
    2. A new spectrin, beta-IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix. (PubMed id 11294830)1, 2, 9 Tse W.T.... Lux S.E. (J. Biol. Chem. 2001)
    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. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)

    (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: 57731 HGNC: 14896 AceView: SPTBN4 Ensembl:ENSG00000160460 euGenes: HUgn57731
    ECgene: SPTBN4 H-InvDB: SPTBN4

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1642

    (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 SPTBN4 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 SPTBN4 gene:
    Search GeneIP for patents involving SPTBN4

    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 SPTBN4   OriGene RNAi products in human, mouse, rat for SPTBN4  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SPTBN4  
     OriGene qSTAR qPCR primer pairs in human, mouse for SPTBN4   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SPTBN4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SPTBN4   OriGene Custom Protein Services for SPTBN4  

     
     
     Block miRNA regulation of human, mouse, rat SPTBN4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SPTBN4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPTBN4 Predesigned siRNA for gene silencing in human, mouse, rat SPTBN4
     QuantiFast Probe-based Assays in human, mouse, rat SPTBN4 QuantiTect SYBR Green Assays in human, mouse, rat SPTBN4
     Custom PCR Arrays for SPTBN4 Search Chromatin IP Primers for SPTBN4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTBN4  GeneGlobe Interaction Network for SPTBN4
     Regulatory tfbs in SPTBN4 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SPTBN4 GenScript cDNA clones with any tag delivered in your preferred vector for SPTBN4
     GenScript Custom Assay Services for SPTBN4 GenScript Custom overexpressing Cell Line Services for SPTBN4
     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 SPTBN4 (SPTN4)
     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
     SPTBN4 antibodies
     Antibodies for SPTBN4
     See all of Abcam's Antibodies, Kits and Proteins for SPTBN4
     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 SPTBN4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN4
     SwitchGear 3'UTR luciferase reporter plasmids for SPTBN4
     SwitchGear Promoter luciferase reporter plasmids for SPTBN4
     Search ThermoFisher Antibodies for SPTBN4
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTBN4
     Browse compounds at ApexBio
     Search Addgene for plasmids for SPTBN4
      Search eBioscience for proteins for SPTBN4
      Search eBioscience for elisas for SPTBN4
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for SPTBN4
     antibodies-online antibodies for SPTBN4 (3 products)
     antibodies-online kits for SPTBN4 (10 products)
      Search antibodies-online for peptides for SPTBN4
      Search antibodies-online for proteins for SPTBN4
           
    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      SPTBN4 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4