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FLASH GENE
Symbol SPTB contributors: - updated : 10-04-2007
HGNC name spectrin, beta, erythrocytic (includes spherocytosis, clinical type I)
HGNC id 11274
Corresponding disease
EL3 hereditary elliptocytosis, 3
SPH2 hereditary spherocytosis, type I
Location 14q22-q23.2      Physical location : 65.213.001 - 65.289.866
Synonym symbol(s) SPCB, HSpTB1
DNA
TYPE functioning gene
STRUCTURE 76.00 kb     35 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
GPB5 14q23.2 glycoprotein beta 5 PPP2R5E 7p12-p11.2 protein phosphatase 2, regulatory subunit B (B56), epsilon isoform LOC390485 14 similar to ribosomal protein L31 GCATP 14q23.2 glycine C-acetyltransferase pseudogene LOC112840 14q23.2 similar to RIKEN cDNA 2600001A11 gene HSPEP2 14 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 2 SGPP1 14q23.1 sphingosine-1-phosphate phosphatase 1 EIF2S2P 14q23.2 eukaryotic translation initiation factor 2, subunit 2 beta, pseudogene SYNE2 14q23.1-q23.2 spectrin repeat containing, nuclear envelope 2 ESR2 14q24.1 estrogen receptor 2 (ER beta) MTHFD1 14q24 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase AKAP5 14q21-q24 a kinase (PRKA) anchor protein 5 ZNF46 14q22-q24 zinc finger protein 46 (KUP) ZBTB1 14q22.1-q22.3 zinc finger and BTB domain containing 1 HSPA2 14q22 heat shock 70kDa protein 2 C14orf50 14q23.2 chromosome 14 open reading frame 50 NUP50P 14 nucleoporin 50 pseudogene KIAA0599 14q23.3 KIAA0599 SPTB 14q22-q23.2 spectrin, beta, erythrocytic (includes spherocytosis, clinical type I) C14orf52 14q23.2 chromosome 14 open reading frame 52 GPX2 14q24.1 glutathione peroxidase 2 (gastrointestinal) LOC390487 14 similar to Ras-related protein Rab-15 FNTB 14q23.1 farnesyltransferase, CAAX box, beta MAX 14q23.1 MAX protein LOC390488 14 similar to 60S ribosomal protein L21 RPL36AP2 14 ribosomal protein L36a pseudogene 2 PTBP1P 14 polypyrimidine tract binding protein 1 pseudogene FUT8 14q24.3 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) RPL21P8 14 ribosomal protein L21 pseudogene 8 NCOA4P 14 nuclear receptor coactivator 4 pseudogene LOC390489 14 similar to Ferritin heavy chain (Ferritin H subunit) NSEP1P 14q23.2 nuclease sensitive element binding protein 1 pseudogene
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 10064 267 2328 - -
- splicing 6695 246 2137 - -
  • differring in the 3' UTR and coding region compared to variant 1
  • EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
     pancreas exocrine   moderately
    Lymphoid/Immunespleen   predominantly
    Reproductivemale systemprostate  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal actin/EPB41 binding domain, and region (residues 1-301) with two calponin homology domains, designated CH1 and CH2, binding EPB41
  • 17 copies of a 106 residue repeat motif spectrin repeats with an ankyrin binding site on repeat 15
  • a C terminal region of association with SPTA
  • mono polymer heteromer , dimer , tetramer , polymer
    HOMOLOGY
    interspecies ortholog to murine Spnb1
    Homologene
    FAMILY spectrin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION playing a role in the maintenance of the biconcave shape of erythrocytes, in the regulation of plasma membrane
    components and in the maintenance of the lipid asymmetry of the plasma membrane
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of intermediate filament associated protein (IFAP,type III)
  • components of the core structure of the membrane skeleton
  • composed of nonhomologous chains, alpha and beta, which aggregate to form dimers, tetramers, and higher polymers (dimerizing and heteropolymerizing)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • intermediate filament (IFAP, type III)
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPH2 , EL3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS