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

SPTBN4 Gene

protein-coding   GIFtS: 56
GCID: GC19P040973

Spectrin, Beta, Non-Erythrocytic 4

  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

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

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. Diseases associated with SPTBN4 include encephalomyelitis, and schizophrenia, and among its related super-pathways are NCAM signaling for neurite out-growth and Axon guidance. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPTBN4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPTN4_HUMAN, Q9H254 (See protein sequence)
Recommended Name: Spectrin beta chain, non-erythrocytic 4  
Size: 2564 amino acids; 288985 Da
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H254

  • SPTBN4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPTBN4 Protein Expression
    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
    Human Recombinant Protein Products for SPTBN4: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (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--

    SPTBN4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing

    5/8 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


    SPTBN4 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS11086001
    GO:0005200structural constituent of cytoskeleton TAS11294830
    GO:0005515protein binding IPI12812986
    GO:0005543phospholipid binding IEA--
    GO:0019902phosphatase binding IPI11086001
         
    SPTBN4 for ontologies           About GeneDecksing


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

    SPTBN4 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPTBN4 
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    SwitchGear 3'UTR luciferase reporter plasmidSPTBN4 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SPTBN4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Developmental Biology
    Axon guidance0.70
    Developmental Biology0.70
    NCAM signaling for neurite out-growth0.70
    2Axon guidance
    Axon guidance0.69
    L1CAM interactions0.39
    Developmental Biology0.69
    3Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    4NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.62
    5Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    5/8        Reactome Pathways for SPTBN4 (see all 8)
        L1CAM interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    Axon guidance
    NCAM signaling for neurite out-growth



    SPTBN4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTBN4

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

    5/34 Interacting proteins for SPTBN4 (Q9H2541, 2, 3 ENSP000002633734) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI51, 3, ENSP000003555964EBI-308543,EBI-529989 I2D: score=3 STRING: ENSP00000355596
    CDC37Q165432, 3MINT-8250999 I2D: score=2 
    GADD45AP245222, 3MINT-8256059 I2D: score=2 
    GSK3BP498412, 3MINT-8257713 I2D: score=2 
    MLF1IPQ71F232, 3MINT-8263258 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (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--

    SPTBN4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPTBN4 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about SPTBN4 / SPTN4

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    8/56 QIAGEN miScript miRNA 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
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    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 

    24/57 AceView cDNA sequences (see all 57):

    AF324063 AI365123 AK054915 BX333733 CR613374 BM142190 BM701901 AB046862 
    AF311856 AI962525 NM_025213 BF059517 AF311855 NM_020971 AF324064 AY004227 
    AY004226 AF082075 AL133093 BX333734 BF970086 BM021073 CB154647 BM141883 

    GeneLoc Exon Structure

    5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See SPTBN4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPTBN4

    SOURCE GeneReport for Unigene cluster: Hs.32706

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

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    In Situ
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    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

    This gene was present in the common ancestor of animals.

    Orthologs for SPTBN4 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptbn45
    Spnb41
    spectrin beta 41, 5 88.64(n)1
    95.82(a)1
      7 (15.88 cM)5
    802971  NM_032610.21  NP_115999.21 
     273563835 
    lizard
    (Anolis carolinensis)
    Reptilia SPTBN46
    Uncharacterized protein
    65(a)
    1 ↔ 1
    LGf(2000768-2083568)
    zebrafish
    (Danio rerio)
    Actinopterygii SPTBN4 (2 of 3)6
    SPTBN4 (1 of 3)6
    (see all 3)
    spectrin, beta, non-erythrocytic 4
    (see all 3)
    63(a)
    52(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    18(44507676-44544380)
    18(44442197-44480261)
    fruit fly
    (Drosophila melanogaster)
    Insecta beta-Spec6
    beta Spectrin
    42(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
    Paralogs for SPTBN4 gene
    ACTN42  SPTBN22  SYNE22  SPTA12  SPTB2  SPTBN12  ACTN22  SPTBN52  
    SPTAN12  SYNE12  ACTN12  CLMN2  
    17 SIMAP similar genes for SPTBN4 using alignment to 5 protein entries:     SPTN4_HUMAN (see all proteins):
    DKFZp434J0328    SPNB4    MACF1    UTRN    HSpTB1    SPTBN2
    DMD    SPTB    SPTBN1    ACTN1    CLMN    ACF7
    ACTN4    ACTN2    DST    ACTN3    SYNE2

    SPTBN4 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2736 SNPs in SPTBN4 are shown (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) 10/14 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

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    (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
    OMIM gene information: 606214    OMIM disorders: --

    5 diseases for SPTBN4:    About MalaCards
    encephalomyelitis    schizophrenia    neuronitis    pancreatitis
    leukemia


    SPTBN4 for disorders           About GeneDecksing

    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

    PubMed articles for SPTBN4 gene, integrated from 9 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. (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. (2001)
    3. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (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. (2010)
    5. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (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. (2000)
    7. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (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. (2012)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
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      (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
    Entrez Gene: 57731 HGNC: 14896 AceView: SPTBN4 Ensembl:ENSG00000160460 euGenes: HUgn57731
    ECgene: SPTBN4 H-InvDB: SPTBN4

    (According to HUGE)
    About This Section
    HUGE: KIAA1642

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPTBN4 Pharmacogenomics, SNPs, Pathways

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



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