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

SPTBN1 Gene

protein-coding   GIFtS: 66
GCID: GC02P054665

Spectrin, Beta, Non-Erythrocytic 1

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

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, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPTBN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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. The short form cannot bind to the axonal protein fodaxin. Interacts with ANK2
Subcellular location: 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)
Subcellular location: Isoform 2: Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity)
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:

  • UniProtKB: Isoform 2 is phosphorylated on Ser-8 and Ser-10 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01082

  • SPTBN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPTBN1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003119.2  NP_842565.2  

    ENSEMBL proteins: 
     ENSP00000349259   ENSP00000374630   ENSP00000334156  
    Reactome Protein details: Q01082
    Human Recombinant Protein Products for SPTBN1: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    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



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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 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,
    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

    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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 

         15/18 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  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 - Custom generated mouse model solutions for SPTBN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    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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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN1


    (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 SPTBN1 About   (see all 11)                                                                                              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
    4Cell-cell junction organization
    Cell-Cell communication0.64
    5NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SPTBN1
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

    3 Downloadable PowerPoint Slides of QIAGEN 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

    5/10        Reactome Pathways for SPTBN1 (see all 10)
        L1CAM interactions
    Nephrin interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    Axon guidance



    SPTBN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTBN1

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

    5/878 Interacting proteins for SPTBN1 (Q010821, 2, 3 ENSP000003492594) via UniProtKB, MINT, STRING, and/or I2D (see all 878)
    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
    TSG101Q998162, 3MINT-7945693 MINT-7947479 I2D: score=3 
    DISC1Q9NRI51, 3, ENSP000003555964EBI-351561,EBI-529989 I2D: score=2 STRING: ENSP00000355596
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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 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

    SPTBN1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about SPTBN1 / SPTB2

    (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 SPTBN1 gene (2 alternative transcripts): 
    NM_003128.2  NM_178313.2  

    Unigene Clusters for SPTBN1:

    Spectrin, beta, non-erythrocytic 1
    Hs.503178  [show with all ESTs], Hs.705692  [show with all ESTs]
    Unigene Representative Sequences: NM_003128, AL542459
    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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    Additional mRNA sequence: BC009640.2 

    24/46 DOTS entries (see all 46):

    DT.450115  DT.91895659  DT.91801577  DT.100681496  DT.91770342  DT.75144965  DT.91941204  DT.95341987 
    DT.443161  DT.99944145  DT.97795552  DT.95115328  DT.100681495  DT.100044878  DT.98082893  DT.100681493 
    DT.95309533  DT.95115339  DT.100044880  DT.91752153  DT.120957538  DT.91955991  DT.95231535  DT.100681486 

    24/915 AceView cDNA sequences (see all 915):

    AK093946 T82286 AL044900 AA947498 AL542460 BQ880388 BQ897879 BQ889491 
    AA775094 CB269317 BQ775846 AA453057 BP345388 D17086 AW368048 BM314384 
    CB270052 AA346813 CB266630 BQ100975 N24573 BU182367 BC032061 AW368205 

    GeneLoc Exon Structure

    5/6 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™, 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

    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 
     5/32 selected tissues (see all 32) fully expand
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             Olfactory Bulb   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             atrial myocardium   

    See SPTBN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPTBN1

    SOURCE GeneReport for Unigene clusters: Hs.503178 Hs.705692

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

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SPTBN1 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptbn15
    Spnb21
    spectrin beta 21, 5 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
    Uncharacterized protein
    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
    60.98(n)1
    57.26(a)1
      327461  NM_078664.21  NP_523388.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-701 , 3 spectrin beta chain3
    Protein UNC-701
    54(a)
    (best of 2)3
    55.38(n)1
    53.18(a)1
      V(6883990-6892937)3
    1790771  NM_001028882.11  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)
    About This Section
    Paralogs for SPTBN1 gene
    ACTN42  SPTBN22  SYNE22  SPTA12  SPTBN42  SPTB2  ACTN22  SPTBN52  
    SPTAN12  SYNE12  ACTN12  CLMN2  
    18/21 SIMAP similar genes for SPTBN1 using alignment to 8 protein entries:     SPTB2_HUMAN (see all proteins) (see all similar genes):
    HSpTB1    SPTBN2    SPTB    DKFZp434J0328    UTRN    MACF1
    DMD    ACF7    SPTBN4    SPNB4    ACTN1    MLL-ACTN4
    CLMN    DST    ACTN3    ACTN4    ACTN2    SYNE2

    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) 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

    10/5143 SNPs in SPTBN1 are shown (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) 10/18 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

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    (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.)
    About This Section
    OMIM gene information: 182790    OMIM disorders: --

    17 diseases for SPTBN1:    About MalaCards
    fissured tongue    buphthalmos    supravalvular aortic stenosis    neurofibromatosis
    williams-beuren syndrome    beta thalassemia    dengue hemorrhagic fever    thalassemia
    hemorrhagic fever    myopia    sjogren's syndrome    colon adenocarcinoma
    meningioma    schizophrenia    adenocarcinoma    pancreatitis
    breast cancer

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

    SPTBN1 for disorders           About GeneDecksing

    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

    PubMed articles for SPTBN1 gene, integrated from 9 sources (see all 135):
    (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. (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. (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. (2001)
    4. Analysis of recently identified osteoporosis suscepti bility genes in Han Chinese women. (PubMed id 20554715)1, 4 Liu J.M....Ning G. (2010)
    5. Dengue hemorrhagic fever is associated with polymorph isms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (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. (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. (2009)
    8. New sequence variants associated with bone mineral density. (PubMed id 19079262)1, 4 Styrkarsdottir U....Stefansson K. (2009)
    9. Multiple genetic loci for bone mineral density and fractures. (PubMed id 18445777)1, 4 Styrkarsdottir U....Stefansson K. (2008)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

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

    (According to HUGE)
    About This Section
      --

    (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 SPTBN1 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 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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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