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SPTBN1 Gene

protein-coding   GIFtS: 67
GCID: GC02P054665

Spectrin, Beta, Non-Erythrocytic 1

Pneumococci & Pneumococcal Diseases Congress
  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)
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Aliases
Spectrin, Beta, Non-Erythrocytic 11 2     Beta-Spectrin 22
Beta-II Spectrin2 3     Beta-Spectrin II2
Fodrin Beta Chain2 3     Beta-Spectrin Non-Erythrocytic 12
Spectrin, Non-Erythroid Beta Chain 12 3     betaSpII2
SPTB22 3     Embryonic Liver Beta-Fodrin2
ELF2     Epididymis Luminal Protein 1022
HEL1022     Spectrin Beta Chain, Brain 12
beta-fodrin2     Spectrin Beta Chain, Non-Erythrocytic 12
Beta-G Spectrin2     

External Ids:    HGNC: 112751   Entrez Gene: 67112   Ensembl: ENSG000001153067   OMIM: 1827905   UniProtKB: Q010823   

Export aliases for SPTBN1 gene to outside databases

Previous GC identifers: GC02P054791 GC02P054939 GC02P054641 GC02P054658 GC02P054728 GC02P054596 GC02P054485


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPTBN1 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 contains an N-terminal actin-binding domain,
and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SPTBN1 Gene:
SPTBN1 (spectrin, beta, non-erythrocytic 1) is a protein-coding gene. Diseases associated with SPTBN1 include fissured tongue, and buphthalmos. GO annotations related to this gene include phospholipid binding and calmodulin binding. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot: SPTB2_HUMAN, Q01082
Function: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner
and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane

Gene Wiki entry for SPTBN1 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)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPTBN1 gene promoter:
         HFH-3   TBP   p53   AP-1   ATF-2   FAC1   FOXO4   HSF2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SPTBN1 promoter sequence
   Search Chromatin IP Primers for SPTBN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPTBN1


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p16.2   HGNC cytogenetic band: 2p21

SPTBN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTBN1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P054665:  view genomic region     (about GC identifiers)

Start:
54,683,422 bp from pter      End:
54,898,583 bp from pter
Size:
215,162 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, 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.)
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UniProtKB/Swiss-Prot: SPTB2_HUMAN, Q01082 (See protein sequence)
Recommended Name: Spectrin beta chain, non-erythrocytic 1  
Size: 2364 amino acids; 274609 Da
Subunit: Like erythrocyte spectrin, the spectrin-like proteins are capable to form dimers which can further
associate to tetramers. Interacts with CAMSAP1. Interacts with ANK2. Isoform Short cannot bind to the axonal
protein fodaxin
Sequence caution: Sequence=BAD92985.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for SPTBN1:
1AA2 (3D)        1BKR (3D)        3EDV (3D)    
Secondary accessions: B2RP63 O60837 Q16057 Q53R99 Q59ER3 Q8IX99
Alternative splicing: 3 isoforms:  Q01082-1   Q01082-2   Q01082-3   (Contains a phosphoserine at position 8 (By similarity). Contains a phosphoserine at position 10. Contains a phosphoserine at position 14)

Explore the universe of human proteins at neXtProt for SPTBN1: NX_Q01082

Explore proteomics data for SPTBN1 at MOPED

Post-translational modifications: 

  • Isoform 2 is phosphorylated on Ser-8 and Ser-10 (By similarity)1
  • Ubiquitination2 at Lys62, Lys593, Lys1684, Lys2177
  • Glycosylation2 at Ser2324
  • Modification sites at PhosphoSitePlus

  • See SPTBN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003119.2  NP_842565.2  

    ENSEMBL proteins: 
     ENSP00000349259   ENSP00000374630   ENSP00000334156  
    Reactome Protein details: Q01082

    SPTBN1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

    SPTBN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SPTBN1
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    Novus Biologicals SPTBN1 Antibodies
    Abcam antibodies for SPTBN1
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    SPTBN1 Assay Products:

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    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)
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    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 Q01082

    ProtoNet protein and cluster: Q01082

    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: SPTB2_HUMAN, Q01082
    Similarity: Belongs to the spectrin family
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 1 PH domain
    Similarity: Contains 17 spectrin repeats


    SPTBN1 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPTB2_HUMAN, Q01082
    Function: Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner
    and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane

         Genatlas biochemistry entry for SPTBN1:
    spectrin,beta,non-erythrocytic 1,intermediate filament associated protein (IFAP,type III),beta-fodrin,mainly
    expressed in brain

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005200structural constituent of cytoskeleton IMP17620337
    GO:0005515protein binding IPI12820899
    GO:0005516calmodulin binding IEA--
    GO:0005543phospholipid binding IEA--
         
    SPTBN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPTBN1:
     Decreased p24 protein expressi 

         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sptbn1) (see all 18):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  muscle  nervous system  renal/urinary system 

    SPTBN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sptbn1tm1Mish for SPTBN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPTBN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPTBN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPTBN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPTBN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPTBN1:
    hsa-mir-1301-3p (MIRT035983), hsa-mir-192-5p (MIRT026166), hsa-let-7e-5p (MIRT051442), hsa-mir-26a-5p (MIRT050120), hsa-mir-193b-3p (MIRT041403), hsa-mir-423-3p (MIRT042558), hsa-mir-215-5p (MIRT024854), hsa-mir-34a-5p (MIRT025300), hsa-mir-615-3p (MIRT040242), hsa-mir-331-3p (MIRT043543), hsa-mir-589-3p (MIRT040504), hsa-let-7a-5p (MIRT052584), hsa-mir-195-5p (MIRT044864), hsa-mir-9-5p (MIRT021336), hsa-mir-93-5p (MIRT027962)

    Block miRNA regulation of human, mouse, rat SPTBN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPTBN1 (see all 129):
    hsa-miR-100* hsa-miR-520f hsa-miR-128 hsa-miR-3653 hsa-miR-4275 hsa-miR-298 hsa-miR-3622a-5p hsa-miR-548y
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): SPTBN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SPTBN1
    Predesigned siRNA for gene silencing in human, mouse, rat SPTBN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPTBN1

    Clone
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    OriGene ORF clones in mouse, rat for SPTBN1
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    GenScript: all cDNA clones in your preferred vector (see all 2): SPTBN1 (NM_178313)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTBN1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPTB2_HUMAN, Q01082: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril, sarcomere, M line (By
    similarity). Note=Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes (By
    similarity)
    SPTB2_HUMAN, Q01082: Isoform 2: Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton4
    cytosol4
    nucleus4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus IDA9537418
    GO:0005737cytoplasm IDA9537418
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ----

    SPTBN1 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).
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    SuperPaths for SPTBN1 About   (see all 10)                                                                                              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
    3Cell junction organization
    Cell-Cell communication0.64
    4NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.59
    5TWEAK Pathway
    Apoptosis through Death Receptors0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SPTBN1
        Sertoli-Sertoli Cell Junction Dynamics
    Apoptosis through Death Receptors
    Epithelial Tight Junctions

    1 GeneGo (Thomson Reuters) Pathway for SPTBN1
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

    2 BioSystems Pathways for SPTBN1
        SIDS Susceptibility Pathways
    TGF-beta receptor signaling

    3 Reactome Pathways for SPTBN1
        Nephrin interactions
    Interaction between L1 and Ankyrins
    NCAM signaling for neurite out-growth



    SPTBN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPTBN1
    Interactions:

        GeneGlobe Interaction Network for SPTBN1

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

    Selected Interacting proteins for SPTBN1 (Q010821, 2, 3 ENSP000003492594) via UniProtKB, MINT, STRING, and/or I2D (see all 903)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTR1AP611632, 3, ENSP000003589214MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000358921
    EXOC2Q96KP12, 3MINT-7945693 MINT-7947479 I2D: score=4 
    RINT1Q6NUQ12, 3, ENSP000002577004MINT-64662 I2D: score=4 STRING: ENSP00000257700
    SMAD9O151982, 3, ENSP000003691544MINT-62062 I2D: score=3 STRING: ENSP00000369154
    TSG101Q998162, 3MINT-7945693 MINT-7947479 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000281mitotic cytokinesis IMP17620337
    GO:0007009plasma membrane organization IMP17620337
    GO:0007182common-partner SMAD protein phosphorylation IEA--
    GO:0007184SMAD protein import into nucleus IEA--
    GO:0007411axon guidance TAS--

    SPTBN1 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPTBN1 (SPTB2)

    1 HMDB Compound for SPTBN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 DrugBank Compounds for SPTBN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    D-Myo-Inositol-1,4,5-Triphosphate-- --target--17139284 17016423 10592235
    Calcium-- --targetagonist1537825

    3 Novoseek inferred chemical compound relationships for SPTBN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 20.2 2 2144851 (1), 17088250 (1)
    serine 17.7 3 2144851 (1), 18958736 (1), 15994232 (1)
    calcium 0 4 8688828 (3)



    SPTBN1 for compounds           About GeneDecksing



    (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 )
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    REFSEQ mRNAs for SPTBN1 gene (2 alternative transcripts): 
    NM_003128.2  NM_178313.2  

    Unigene Cluster for SPTBN1:

    Spectrin, beta, non-erythrocytic 1
    Hs.503178  [show with all ESTs]
    Unigene Representative Sequence: NM_003128
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356805(uc002rxv.1 uc002rxu.3 uc010you.2) ENST00000389980
    ENST00000602898 ENST00000333896(uc002rxx.3 uc002rxy.3) ENST00000496323
    ENST00000467371

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    Selected qRT-PCR Assays for microRNAs that regulate SPTBN1 (see all 129):
    hsa-miR-100* hsa-miR-520f hsa-miR-128 hsa-miR-3653 hsa-miR-4275 hsa-miR-298 hsa-miR-3622a-5p hsa-miR-548y
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): SPTBN1 (NM_178313)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SPTBN1
      QuantiFast Probe-based Assays in human, mouse, rat SPTBN1

    Additional mRNA sequence: 

    AB209748.1 AB371586.1 AF218848.1 AF327441.1 AJ005694.1 AK025071.1 AK295570.1 AL117605.1 
    BC032061.1 BC137282.1 BC137283.1 JQ599728.1 S65762.1 

    Selected DOTS entries (see all 45):

    DT.450115  DT.91895659  DT.91801577  DT.100681496  DT.91770342  DT.75144965  DT.95341987  DT.443161 
    DT.97795552  DT.95115328  DT.100044878  DT.98082893  DT.99944145  DT.91941204  DT.100681493  DT.95309533 
    DT.100681495  DT.95115339  DT.91752153  DT.91955991  DT.100681486  DT.120957538  DT.91876148  DT.91978439 

    Selected AceView cDNA sequences (see all 915):

    BF941211 AW297210 BQ897711 BF061149 AI123884 AI002045 AL699171 BM824746 
    AA149901 AI023927 AA292210 AW085775 BM663653 CD517359 AI150684 AA328690 
    BF933647 BQ877289 BQ878544 AA494385 CD518387 W60295 AW368180 BQ684451 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:              -                                                                                                                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b
    SP1:        -                                               -     -     -     -                                       
    SP2:        -                                                                                                         
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                        -           -     -                                       


    ECgene alternative splicing isoforms for SPTBN1

    (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)
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    SPTBN1 expression in normal human tissues (normalized intensities)      SPTBN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGCTTTTCT
    SPTBN1 Expression
    About this image


    SPTBN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             pre Conventional Dendritic Cells Peripheral Blood
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    SPTBN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPTBN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503178

    UniProtKB/Swiss-Prot: SPTB2_HUMAN, Q01082
    Tissue specificity: Isoform 2 is present in brain, lung and kidney (at protein level)

        Custom PCR Arrays for SPTBN1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SPTBN1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptbn11 , 5 spectrin beta 25
    spectrin beta, non-erythrocytic 11
    90.32(n)1
    98.35(a)1
      11 (17.44 cM)5
    207421  NM_175836.21  NP_787030.21 
     300993955 
    chicken
    (Gallus gallus)
    Aves SPTBN11 spectrin, beta, non-erythrocytic 1 83.45(n)
    96.02(a)
      421216  NM_001199425.1  NP_001186354.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPTBN16
    spectrin, beta, non-erythrocytic 1
    95(a)
    1 ↔ 1
    1(263398524-263650988)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985112 similar to spectrin, beta, non-erythrocytic 1 74.2(n)    BC046267.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sptb2 spectrin, beta, erythrocytic 74.11(n)   58040  AF262336.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta &bgr;-Spec3
    beta-Spec1
    neuromuscular synaptic transmission
    actin binding3
    beta Spectrin1
    58(a)
    (best of 2)3
    61.19(n)1
    57.6(a)1
      327461  NM_001272731.11  NP_001259660.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-701 , 3 spectrin beta chain3
    unc-701
    54(a)
    (best of 2)3
    55.38(n)1
    53.18(a)1
      V(6883990-6892937)3
    1790771  NM_001028882.21  NP_001024053.11 


    ENSEMBL Gene Tree for SPTBN1 (if available)
    TreeFam Gene Tree for SPTBN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPTBN1 gene
    ACTN42  SPTBN22  SPTA12  SYNE22  SPTBN42  SPTB2  ACTN22  SPTBN52  
    SPTAN12  SYNE12  ACTN12  CLMN2  
    Selected SIMAP similar genes for SPTBN1 using alignment to 8 protein entries:     SPTB2_HUMAN (see all proteins) (see all similar genes):
    HSpTB1    SPTBN2    SPTB    DKFZp434J0328    DMD    MACF1
    ACF7    SPTBN4    ACTN1    SPNB4    MLL-ACTN4    CLMN
    DST    ACTN3    ACTN4    ACTN2    SYNE2    PLEC

    SPTBN1 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)
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    Selected SNPs for SPTBN1 (see all 5143)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs759001881,2
    C--54547609(+) GCTAAG/TGTGTG 1 -- us2k10--------
    rs1139357431,2
    C,F--54547839(+) GAGGTG/CCTGGG 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs754320701,2
    C,F--54547850(+) GTCCAT/CGGTAA 1 -- us2k12Minor allele frequency- C:0.09WA EA 238
    rs1435180121,2
    --54547896(+) TCTAGG/TGGATT 1 -- us2k10--------
    rs1118922771,2
    C--54547958(+) CAACAT/AATTTG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1416034181,2
    C--54548037(+) TACGGC/TCTGGT 1 -- us2k10--------
    rs1500933481,2
    --54548061(+) CTTCTC/GAGAAA 1 -- us2k10--------
    rs1830660231,2
    C--54548331(+) AGGTCC/TGTATG 1 -- us2k10--------
    rs1386261121,2
    --54548350(+) GCCCTC/GGGGCT 1 -- us2k10--------
    rs1429292531,2
    --54548365(+) CAAACA/CGGAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPTBN1 (54683422 - 54898583 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPTBN1 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1689528CNV Deletion17803354
    dgv700e199CNV Deletion23128226
    esv2503095CNV Deletion19546169
    esv3076CNV Deletion18987735
    esv2676637CNV Deletion23128226
    esv2263133CNV Deletion18987734
    esv987979CNV Deletion20482838
    esv2720078CNV Deletion23290073
    esv2720081CNV Deletion23290073
    nsv2733CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTBN1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTBN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182790    OMIM disorders: --

    Selected diseases for SPTBN1 (see all 31):    About MalaCards
    fissured tongue    buphthalmos    supravalvular aortic stenosis    osteoporotic fracture
    neurofibromatosis    beckwith-wiedemann syndrome    williams-beuren syndrome    beta thalassemia
    dengue hemorrhagic fever    thalassemia    myeloproliferative disorder    hemorrhagic fever
    myopia    sjogren's syndrome    osteoporosis    colon adenocarcinoma
    meningioma    schizophrenia    pancreatic cancer    tonsillitis

    1 disease from the University of Copenhagen DISEASES database for SPTBN1:
    Williams-Beuren syndrome

    SPTBN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    1 Novoseek inferred disease relationship for SPTBN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 2 72.1 2 9537418 (1), 11665863 (1)

    Genetic Association Database (GAD): SPTBN1
    Human Genome Epidemiology (HuGE) Navigator: SPTBN1 (7 documents)

    Export disorders for SPTBN1 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

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    PubMed articles for SPTBN1 gene, integrated from 10 sources (see all 141):
    (articles sorted by number of sources associating them with SPTBN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel C-terminal variant of betaII spectrin: two isoforms of betaII spectrin have distinct intracellular locations and activities. (PubMed id 10806113)1, 2, 9 Hayes N.V.L.... Baines A.J. (J. Cell Sci. 2000)
    2. Cloning of a portion of the chromosomal gene and cDNA for human beta- fodrin, the nonerythroid form of beta-spectrin. (PubMed id 8406479)1, 2, 9 Chang J.G.... Forget B.G. (Genomics 1993)
    3. A novel isoform of beta-spectrin II localizes to cerebellar Purkinje- cell bodies and interacts with neurofibromatosis type 2 gene product schwannomin. (PubMed id 11665863)1, 2, 9 Chen Y.... Cai T. (J. Mol. Neurosci. 2001)
    4. Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women. (PubMed id 20554715)1, 4 Liu J.M....Ning G. (J. Clin. Endocrinol. Metab. 2010)
    5. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (Eur. J. Hum. Genet. 2010)
    6. 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)
    7. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PubMed id 19801982)1, 4 Rivadeneira F....Uitterlinden A.G. (Nat. Genet. 2009)
    8. New sequence variants associated with bone mineral density. (PubMed id 19079262)1, 4 Styrkarsdottir U....Stefansson K. (Nat. Genet. 2009)
    9. Multiple genetic loci for bone mineral density and fractures. (PubMed id 18445777)1, 4 Styrkarsdottir U....Stefansson K. (N. Engl. J. Med. 2008)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 6711 HGNC: 11275 AceView: SPTBN1 Ensembl:ENSG00000115306 euGenes: HUgn6711
    ECgene: SPTBN1 H-InvDB: SPTBN1

    (According to HUGE)
    About This Section

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      --

    (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

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    NameDescription
    PharmGKB entry for SPTBN1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SPTBN1 gene:
    Search GeneIP for patents involving SPTBN1

    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
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