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SPTB Gene

protein-coding   GIFtS: 63
GCID: GC14M065213

Spectrin, Beta, Erythrocytic

  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, Erythrocytic1 2     spherocytosis1
Beta-I Spectrin2 3     HSPTB12
EL32 5     Membrane Cytoskeletal Protein2
HS22 5     Spectrin Beta Chain, Erythrocyte2
SPH22 5     Spectrin Beta Chain, Erythrocytic2
Clinical Type I1     SPTB13

External Ids:    HGNC: 112741   Entrez Gene: 67102   Ensembl: ENSG000000701827   OMIM: 1828705   UniProtKB: P112773   

Export aliases for SPTB gene to outside databases

Previous GC identifers: GC14M062543 GC14M059009 GC14M063205 GC14M064284 GC14M045384


(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 SPTB Gene:
This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in
cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte
membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis,
and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. (provided by
RefSeq, Nov 2009)

GeneCards Summary for SPTB Gene:
SPTB (spectrin, beta, erythrocytic) is a protein-coding gene. Diseases associated with SPTB include gnathomiasis, and spherocytic elliptocytosis. GO annotations related to this gene include protein heterodimerization activity and structural constituent of cytoskeleton. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot: SPTB1_HUMAN, P11277
Function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma
membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma
membrane

Gene Wiki entry for SPTB 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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPTB gene promoter:
         HOXA9B   HOXA9   N-Myc   Ik-2   FOXF2   Zic1   MyoD   Olf-1   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPTB promoter sequence
   Search Chromatin IP Primers for SPTB

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


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

Entrez Gene cytogenetic band: 14q23-q24.2   Ensembl cytogenetic band:  14q23.3   HGNC cytogenetic band: 14q24.1-q24.2

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M065213:  view genomic region     (about GC identifiers)

Start:
65,213,001 bp from pter      End:
65,346,601 bp from pter
Size:
133,601 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPTB1_HUMAN, P11277 (See protein sequence)
Recommended Name: Spectrin beta chain, erythrocytic  
Size: 2137 amino acids; 246468 Da
Subunit: Composed of nonhomologous chains, alpha and beta, which aggregate to form dimers, tetramers, and higher
polymers
Miscellaneous: This complex is anchored to the cytoplasmic face of the plasma membrane via another protein,
ankyrin, which binds to beta-spectrin and mediates the binding of the whole complex to a transmembrane protein
band 3. The interaction of erythrocyte spectrin with other proteins through specific binding domains lead to the
formation of an extensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the
biconcave shape of human erythrocytes, for the regulation of plasma membrane components and for the maintenance
of the lipid asymmetry of the plasma membrane
6 PDB 3D structures from and Proteopedia for SPTB:
1S35 (3D)        3EDU (3D)        3F57 (3D)        3KBT (3D)        3KBU (3D)        3LBX (3D)    
Secondary accessions: Q15510 Q15519
Alternative splicing: 3 isoforms:  P11277-1   P11277-2   P11277-3   (Due to exon skipping)

Explore the universe of human proteins at neXtProt for SPTB: NX_P11277

Explore proteomics data for SPTB at MOPED

Post-translational modifications: 

  • The first phosphorylation event occurs on Ser-2114, followed by Ser-2125, Ser-2123, Ser-2128, Ser-2117, and
    Thr-21101
  • Ubiquitination2 at Lys62
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000338.3  NP_001020029.1  

    ENSEMBL proteins: 
     ENSP00000451324   ENSP00000451752   ENSP00000374371   ENSP00000374370   ENSP00000374372  
     ENSP00000443882  
    Reactome Protein details: P11277

    SPTB Human Recombinant Protein Products:

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

    SPTB Antibody Products:

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    Novus Biologicals SPTB Antibodies
    Abcam antibodies for SPTB (P02549, P11277)
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    ThermoFisher Antibody for SPTB
    LSBio Antibodies in human, mouse, rat for SPTB

    SPTB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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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

    5 InterPro protein domains:
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR001589 Actinin_actin-bd_CS
     IPR016343 Spectrin_bsu
     IPR018159 Spectrin/alpha-actinin

    Graphical View of Domain Structure for InterPro Entry P11277

    ProtoNet protein and cluster: P11277

    3 Blocks protein domains:
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: SPTB1_HUMAN, P11277
    Similarity: Belongs to the spectrin family
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 17 spectrin repeats


    SPTB 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: SPTB1_HUMAN, P11277
    Function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma
    membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma
    membrane

         Genatlas biochemistry entry for SPTB:
    spectrin,beta,erythrocytic,intermediate filament associated protein (IFAP,type III),dimerizing and
    heteropolymerizing,components of the core structure of the membrane skeleton

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS2195026
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005515protein binding IPI16060676
    GO:0030506ankyrin binding IPI8159688
    GO:0046982protein heterodimerization activity IEA--
         
    SPTB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SPTB:
     Decreased Salmonella enterica   Synthetic lethal with imatinib 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sptb):
     adipose tissue  cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system  renal/urinary system 
     reproductive system 

    SPTB for phenotypes           About GeneDecksing

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

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

    miRNA
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    hsa-mir-331-3p (MIRT043541), hsa-mir-335-5p (MIRT018509)

    Block miRNA regulation of human, mouse, rat SPTB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPTB (see all 42):
    hsa-miR-3194-5p hsa-miR-765 hsa-miR-628-3p hsa-miR-3138 hsa-miR-766 hsa-miR-29b-1* hsa-miR-3923 hsa-miR-629
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SPTB

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SPTB (NM_000347)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTB
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTB

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTB


    (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
    SPTB1_HUMAN, P11277: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    plasma membrane4
    golgi apparatus3
    nucleus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ----
    GO:0008091spectrin IEA--
    GO:0009986cell surface IDA10867799

    SPTB 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 SPTB About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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



    SPTB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SPTB: 
              Tight Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SPTB

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

    Selected Interacting proteins for SPTB (P112771, 3 ENSP000003743724) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAXXQ9UER73I2D: score=2 
    ENSG00000206206Q9UER73I2D: score=2 
    ENSG00000206279Q9UER73I2D: score=2 
    ENSG00000227046Q9UER73I2D: score=2 
    ENSG00000231617Q9UER73I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006779porphyrin-containing compound biosynthetic process IEA--
    GO:0007009plasma membrane organization IEA--
    GO:0007411axon guidance TAS--
    GO:0030097hemopoiesis IEA--
    GO:0051693actin filament capping IEA--

    SPTB 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 SPTB (SPTB1)

    Selected Novoseek inferred chemical compound relationships for SPTB gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-nitro-5-thiocyanobenzoic acid 74.5 4 1833409 (1), 15065869 (1), 8379939 (1)
    glyceraldehyde 3-phosphate 35.6 1 17521179 (1)
    acetyl-l-carnitine 29.8 1 8380879 (1)
    inositol 1,4,5 trisphosphate 23.6 1 9671557 (1)
    phosphatidylserine 17.4 3 14717584 (2), 15121103 (1)
    lipid 14.6 4 12743109 (1), 15171729 (1), 20036642 (1), 10027705 (1)
    agarose 9.34 1 1840591 (1)
    oxygen 5.3 1 16096844 (1)
    serine 3.67 2 9798950 (1)
    glucose 3.47 2 9527873 (2)



    SPTB 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,
    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 SPTB gene (2 alternative transcripts): 
    NM_000347.5  NM_001024858.2  

    Unigene Cluster for SPTB:

    Spectrin, beta, erythrocytic
    Hs.417303  [show with all ESTs]
    Unigene Representative Sequence: NM_001024858
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342835 ENST00000553938 ENST00000556227 ENST00000556626 ENST00000389721
    ENST00000389720 ENST00000542694 ENST00000389722(uc010aqi.3 uc001xhr.3 uc001xhs.3)
    ENST00000542895(uc001xht.3 uc001xhu.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SPTB (see all 42):
    hsa-miR-3194-5p hsa-miR-765 hsa-miR-628-3p hsa-miR-3138 hsa-miR-766 hsa-miR-29b-1* hsa-miR-3923 hsa-miR-629
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      QuantiFast Probe-based Assays in human, mouse, rat SPTB

    Additional mRNA sequence: 

    AB209415.1 AF465439.1 AK094815.1 AK126627.1 BC010434.1 BC136284.1 BC136285.1 BX248270.1 
    J05500.1 M18054.1 M37884.1 M37885.1 M57948.1 S42560.1 X59510.1 X59511.1 

    9 DOTS entries:

    DT.315853  DT.453814  DT.97839158  DT.100748529  DT.95271025  DT.95271026  DT.97837819  DT.102833620 
    DT.40112916 

    Selected AceView cDNA sequences (see all 131):

    BM727714 BU786903 CA429242 BC010434 AF465439 AI093063 BM510640 BM681142 
    Z42092 AJ573004 AK126627 AA323538 CK300348 BX354394 BX508326 T28114 
    BU782581 BM714051 BX248270 F28922 M37885 BX280800 AK094815 M37884 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPTB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGGAAACA
    SPTB Expression
    About this image


    SPTB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    SPTB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPTB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.417303
        Pathway & Disease-focused RT2 Profiler PCR Array including SPTB: 
              Tight Junctions in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SPTB
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTB

    (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 SPTB gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptb1 , 5 spectrin beta 15
    spectrin beta, erythrocytic1
    87.18(n)1
    90.89(a)1
      12 (33.73 cM)5
    207411  NM_013675.31  NP_038703.31 
     765804885 
    chicken
    (Gallus gallus)
    Aves SPTB1 spectrin, beta, erythrocytic 70.21(n)
    63.49(a)
      769410  XM_004941263.1  XP_004941320.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPTB6
    spectrin, beta, erythrocytic
    70(a)
    1 ↔ 1
    1(93839104-93917797)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004892651 spectrin beta chain, non-erythrocytic 1-like 62.05(n)
    61.39(a)
      100489265  XM_004917264.1  XP_004917321.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sptb6
    spectrin, beta, erythrocytic
    61(a)
    1 ↔ 1
    17(38734235-38766540) ENSDARG00000030490
    fruit fly
    (Drosophila melanogaster)
    Insecta &bgr;-Spec3 neuromuscular synaptic transmission
    actin binding
    50(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-703 spectrin beta chain 48(a)
    (best of 2)
      V(6883990-6892937)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPTB gene
    ACTN42  SPTBN22  SPTA12  SYNE22  SPTBN42  SPTBN12  ACTN22  SPTBN52  
    SPTAN12  ACTN12  SYNE12  CLMN2  
    15 SIMAP similar genes for SPTB using alignment to 4 protein entries:     SPTB1_HUMAN (see all proteins):
    HSpTB1    MACF1    SPTBN1    SPTBN2    DKFZp434J0328    DMD
    SPNB4    SPTBN4    ACF7    SPTA1    SYNE2    ACTN4
    SPTAN1    ACTN1    ACTN2

    SPTB 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 SPTB (see all 2243)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0013604
    Elliptocytosis 3 (EL3)4--see VAR_0013602 W R mis40--------
    VAR_0013574
    Elliptocytosis 3 (EL3)4--see VAR_0013572 A G mis40--------
    VAR_0013614
    Elliptocytosis 3 (EL3)4--see VAR_0013612 L R mis40--------
    VAR_0013584
    Elliptocytosis 3 (EL3)4--see VAR_0013582 S P mis40--------
    VAR_0013594
    Elliptocytosis 3 (EL3)4--see VAR_0013592 A V mis40--------
    VAR_0013624
    Elliptocytosis 3 (EL3)4--see VAR_0013622 A P mis40--------
    rs1219186451,2
    Cpathogenic146221147(-) ATGAGC/GCTTTT 4 P A mis10--------
    rs724584631,2
    C--45436055(+) AAAAG-/A/GG  
            
    GACTC
    2 -- int10--------
    rs1490693331,2
    C--46199155(+) CCTTAA/CACGGC 1 -- ds50010--------
    rs413043611,2
    F--46199247(+) GAAACA/GCAGTG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SPTB (65213001 - 65346601 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for SPTB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748779CNV Deletion23290073
    esv2235568CNV Deletion18987734
    nsv519823CNV Loss19592680
    dgv1944n71CNV Loss21882294
    nsv902025CNV Loss21882294
    nsv521286CNV Loss19592680
    nsv516768CNV Gain19592680
    dgv639e1CNV Complex17122850

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182870    OMIM disorders: --

    UniProtKB/Swiss-Prot: SPTB1_HUMAN, P11277
  • Elliptocytosis 3 (EL3) [MIM:182870]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically
    heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and
    elliptical or oval red cell shape. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Spherocytosis 2 (SPH2) [MIM:182870]: Spherocytosis is a hematologic disorder leading to chronic hemolytic
    anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is
    characterized by severe hemolytic anemia. Inheritance is autosomal dominant. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for SPTB (see all 42):    
    About MalaCards
    gnathomiasis    spherocytic elliptocytosis    anemia, neonatal hemolytic, fatal and near-fatal    spherocytosis, type 2
    sptb-related spherocytosis    elliptocytosis 3    pyropoikilocytosis    homozygous hereditary elliptocytosis
    pyropoikilocytosis hereditary    hereditary elliptocytosis    spherocytosis, hereditary, type 5    elliptocytosis-1
    hereditary spherocytosis    vacuolar myopathy    hemolytic anemia    centronuclear myopathy
    beta thalassemia    hydrops fetalis    thalassemia    protein s deficiency

    5 diseases from the University of Copenhagen DISEASES database for SPTB:
    Hereditary elliptocytosis     Anemia     Thalassemia     Sickle cell anemia
    Gnathomiasis

    SPTB for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SPTB gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    elliptocytosis hereditary 93.7 19 1498324 (2), 1840591 (1), 10772878 (1), 2056132 (1) (see all 18)
    spherocytosis hereditary 91.2 16 8102379 (2), 8675627 (1), 16617750 (1), 11154235 (1) (see all 13)
    pyropoikilocytosis, hereditary 86.9 1 17192394 (1)
    spherocytosis 77 2 19538529 (1), 7803294 (1)
    anemia hemolytic congenital 69.7 1 8813717 (1)
    anemia hemolytic 68.7 1 9005995 (1)
    muscular dystrophy duchenne 55.8 7 8208414 (2), 1406935 (1), 10867799 (1), 8960314 (1) (see all 6)
    hemolysis 54.4 4 11060238 (2), 16728274 (1), 16096844 (1)
    protein deficiency 42.3 1 14636652 (1)
    muscular dystrophy becker 38.8 1 8208414 (1)

    Genetic Association Database (GAD): SPTB
    Human Genome Epidemiology (HuGE) Navigator: SPTB (9 documents)

    Export disorders for SPTB 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)
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    PubMed articles for SPTB gene, integrated from 10 sources (see all 233):
    (articles sorted by number of sources associating them with SPTB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of the gene for beta-spectrin (SPTB) to chromosome 14q23----q24.2 by in situ hybridization. (PubMed id 2209094)1, 3, 9 Fukushima Y....Shows T.B. (Cytogenet. Cell Genet. 1990)
    2. A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. (PubMed id 1840591)1, 2, 9 Gallagher P.G....Forget B.G. (J. Biol. Chem. 1991)
    3. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. (PubMed id 2056132)1, 2, 9 Garbarz M.... Forget B.G. (J. Clin. Invest. 1991)
    4. In vivo phosphorylation of human erythrocyte spectrin occurs in a sequential manner. (PubMed id 15065869)1, 2, 9 Tang H.Y. and Speicher D.W. (Biochemistry 2004)
    5. Beta spectrin Kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. (PubMed id 8102379)1, 2, 9 Becker P.S.... Forget B.G. (J. Clin. Invest. 1993)
    6. Full-length sequence of the cDNA for human erythroid beta-spectrin. (PubMed id 2195026)1, 2, 9 Winkelmann J.C....Forget B.G. (J. Biol. Chem. 1990)
    7. Beta spectrin in human skeletal muscle. Tissue-specific differential processing of 3' beta spectrin pre-mRNA generates a beta spectrin isoform with a unique carboxyl terminus. (PubMed id 2243099)1, 2, 9 Winkelmann J.C.... Forget B.G. (J. Biol. Chem. 1990)
    8. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (PubMed id 8844207)1, 2, 9 Maillet P.... Delaunay J. (Hum. Mutat. 1996)
    9. Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke. (PubMed id 19910543)1, 4 Ding H....Wang D.W. ( a journal of cerebral circulation 2010)
    10. 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)

    (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: 6710 HGNC: 11274 AceView: SPTB Ensembl:ENSG00000070182 euGenes: HUgn6710
    ECgene: SPTB H-InvDB: SPTB

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for SPTB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPTB Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPTB gene:
    Search GeneIP for patents involving SPTB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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