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

SPTB Gene

protein-coding   GIFtS: 59
GCID: GC14M065213

spectrin, beta, erythrocytic

 Explore 34 diseases affiliated with
SPTB via our new
 Human Malady Compendium 
Biological research products
for SPTB
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Spectrin, Beta, Erythrocytic1 2     HSPTB12
Beta-I Spectrin2 3     Membrane Cytoskeletal Protein2
EL32 5     Spectrin Beta Chain, Erythrocyte2
HS22 5     Spectrin Beta Chain, Erythrocytic2
SPH22 5     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPTB:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPTB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex
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

Post-translational modifications:

  • The first phosphorylation event occurs on Ser-2114, followed by Ser-2125, Ser-2123, Ser-2128, Ser-2117, and Thr-21101
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11277

  • SPTB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000451324   ENSP00000451752   ENSP00000374371   ENSP00000374370   ENSP00000374372  
     ENSP00000443882  
    Reactome Protein details: P11277
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (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



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

    SPTB for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P11277

    ProtoNet protein and cluster: P11277

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTB

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS2195026
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005515protein binding IPI16060676
    GO:0005543phospholipid binding ----
    GO:0030506ankyrin binding IPI8159688


    SPTB for ontologies           About GeneDecksing


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

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

    SPTB for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Axon guidance
    Axon guidance1.00
    L1CAM interactions0.39
    Developmental Biology0.69
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics1.00
    Epithelial Tight Junctions0.36
    3Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins1.00
    4NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    5        Reactome Pathways for SPTB
        L1CAM interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    NCAM signaling for neurite out-growth
    Axon guidance



    SPTB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTB

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

    5/31 Interacting proteins for SPTB (P112771, 3 ENSP000003743724) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPTA1P025493, ENSP000003571304I2D: score=4 STRING: ENSP00000357130
    ANK1P161573, ENSP000002657094I2D: score=1 STRING: ENSP00000265709
    CSRP3P504613, ENSP000002659684I2D: score=1 STRING: ENSP00000265968
    MAPTP106363, ENSP000003408204I2D: score=1 STRING: ENSP00000340820
    SPTAN1Q138133, ENSP000003618244I2D: score=4 STRING: ENSP00000361824
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPTB for compounds           About GeneDecksing

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

    Browse Tocris compounds for SPTB
    10/16 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SPTB / SPTB1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    8/42 QIAGEN miScript miRNA 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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    Additional cDNA 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 

    24/131 AceView cDNA sequences (see all 131):

    BM727714 AJ573004 BM510640 M37885 AI093063 BX280800 BU782581 Z42092 
    CK300348 CA429242 T28114 BX508326 BX248270 BU786903 BC010434 BM681142 
    BX354394 AA323538 BM714051 AK126627 F28922 AF465439 NM_000347 AA992469 

    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™, 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

    SPTB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGGAAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SPTB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPTB

    SOURCE GeneReport for Unigene cluster: Hs.417303
        SABiosciences Expression via Pathway-Focused PCR Array including SPTB: 
              Tight Junctions in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SPTB gene from 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SPTB1 spectrin, beta, erythrocytic 70.52(n)
    63.6(a)
      769410  XM_003641275.1  XP_003641323.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPTB6
    --
    70(a)
    1 ↔ 1
    1(93839104-93917294)
    zebrafish
    (Danio rerio)
    Actinopterygii sptb1 spectrin, beta, erythrocytic 64.65(n)
    63.2(a)
      58040  NM_131525.1  NP_571600.1 
    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)
    About This Section
    Paralogs for SPTB gene
    ACTN42  SPTBN22  SPTA12  SYNE22  SPTBN42  SPTBN12  SPTBN52  ACTN22  
    SPTAN12  ACTN12  SYNE12  CLMN2  
    16 SIMAP similar genes for SPTB using alignment to 4 protein entries:     SPTB1_HUMAN (see all proteins):
    HSpTB1    MACF1    SPTBN1    SPTBN2    DKFZp434J0328    DMD
    SPTBN3    SPNB4    SPTBN4    ACF7    SPTA1    SYNE2
    ACTN4    SPTAN1    ACTN1    ACTN2

    SPTB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1760 NCBI SNPs in SPTB are shown (see all 1760    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs413043611,2
    --45384590(+) GAAACA/GCAGTG 1 -- ds50010--------
    rs413070861,2
    F,--45384813(+) GTTTGT/CGATGA 1 -- ds50012Minor allele frequency- C:0.10NA EA 240
    rs602420811,2
    C,--45385215(+) GCCCCG/CCTCCC 1 -- ut311Minor allele frequency- C:0.50WA 2
    rs797244101,2
    C,F,--45385456(+) NNNNTT/CGCCCA 1 -- ut312Minor allele frequency- C:0.09NA EA 240
    rs784949621,2
    C,F,--45385528(+) TGTGTC/TAACCT 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs745700391,2
    F,--45385625(+) GCCCTG/CGTGTG 1 -- ut311Minor allele frequency- C:0.12WA 118
    rs727244811,2
    --45385768(+) GACCAA/GGCCAG 1 -- ut310--------
    rs2296471,2
    H,--45385820(+) CTTCCT/ATTCTC 1 -- ut316Minor allele frequency- A:0.00MN NS EA NA 604
    rs740582051,2
    C,--45385826(+) TTCTCG/AGGTCT 1 -- ut312Minor allele frequency- A:0.06WA 120
    rs772619611,2
    C,F,--45385835(+) CTGTGG/AAGTTG 1 -- ut311Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for SPTB (65213001 - 65346601 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SPTB
         2 CNVs: 49389 3053
         1 Indel: 60154
    Human Gene Mutation Database (HGMD): SPTB

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    SPTB for disorders           About GeneDecksing

    OMIM gene information: 182870    OMIM disorders: --

    UniProtKB/Swiss-Prot: SPTB1_HUMAN, P11277
  • Defects in SPTB are the cause of elliptocytosis type 3 (EL3) [MIM:182870]. EL3 is 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
  • Defects in SPTB are the cause of spherocytosis type 2 (SPH2) [MIM:182870]; also known as hereditary
  • spherocytosis type 2 (HS2). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and
    characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH2 is characterized by
    severe hemolytic anemia. Inheritance is autosomal dominant

    20/34 diseases for SPTB (see all 34):    About MalaCards
    anemia, neonatal hemolytic, fatal and near-fatal    spherocytosis, type 2    spherocytosis    elliptocytosis
    hereditary elliptocytosis    hemolytic anemia    anemia    pyropoikilocytosis hereditary
    pyropoikilocytosis    elliptocytosis 3    beta thalassemia    muscular dystrophy
    hydrops fetalis    duchenne muscular dystrophy    vacuolar myopathy    otopalatodigital syndrome
    hereditary spherocytosis    centronuclear myopathy    gnathomiasis    dyserythropoietic anemia

    3 diseases from the University of Copenhagen DISEASES database for SPTB:
    Hereditary elliptocytosis     Anemia     Gnathomiasis

    10/20 Novoseek 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)

    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)
    About This Section

    PubMed articles for SPTB gene, integrated from 9 sources (see all 228):
    (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. (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. (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. (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. (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. (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. (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. (1990)
    8. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (PubMed id 8844207)1, 2, 9 Maillet P.... Delaunay J. (1996)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    10. Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. (PubMed id 7883966)1, 2 Gallagher P.G.... Forget B.G. (1995)

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

    (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 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.)
    About This Section
    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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