Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SPTBN2 contributors: mct/npt - updated : 04-05-2010
HGNC name spectrin, beta, non-erythrocytic 2
HGNC id 11276
Corresponding disease
SCA5 spinocerebellar ataxia 5
SCAR14 spinocerebellar ataxia, autosomal recessive 14
Location 11q13.2      Physical location : 66.452.720 - 66.488.870
Synonym name
  • beta spectrin 3
  • spectrin beta G chain
  • glutamate transporter EAAT4-associated protein 41
  • Synonym symbol(s) SPTBG, KIAA0302, SPCP, GTRAP41
    DNA
    TYPE functioning gene
    STRUCTURE 36.15 kb     37 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    KLC2 11q13.1 ras homolog gene family, member D RAB1B 11q12 RAB1B, member RAS oncogene family MGC50896 11q13.1 hypothetical protein MGC50896 YIF1 11q13 Yip1 interacting factor homolog (S. cerevisiae) MGC33486 11q13.1 hypothetical protein MGC33486 LOC387783 11 LOC387783 CD164L1 11q13 CD164 sialomucin-like 1 RIN1 11q13.2 Ras and Rab interactor 1 BRMS1 14q13.1 breast cancer metastasis-suppressor 1 B3GNT6 11q13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 SLC29A2 11q13 solute carrier family 29 (nucleoside transporters), member 2 LOC387784 11 LOC387784 NXF 11q13 HLH-PAS transcription factor NXF MRPL11 11q13.3 mitochondrial ribosomal protein L11 MGC35521 11q13.1 pellino 3 alpha DPP3 11q12-q13.1 dipeptidylpeptidase 3 BBS1 11q13 Bardet-Biedl syndrome 1 LOC254359 11q13.1 hypothetical protein LOC254359 ACTN3 11q13 actinin, alpha 3 CTSF 11q13.1-q13.3 cathepsin F FLJ10786 11q13.1 hypothetical protein FLJ10786 CCS 11q13 copper chaperone for superoxide dismutase RBM14 11q12.1 RNA binding motif protein 14 MGC15912 11q13.1 hypothetical protein MGC15912 RBM4 11q13 RNA binding motif protein 4 MGC10871 11q13 hypothetical protein similar to RNA-binding protein lark SPTBN2 11q13 spectrin, beta, non-erythrocytic 2 FLJ22531 11q13.1 hypothetical protein FLJ22531 RCE1 11q13 RCE1 homolog, prenyl protein protease (S. cerevisiae) PC 11q13.3 pyruvate carboxylase MGC3103 LOC254439 11q13.1 hypothetical gene supported by AK026328 SYT12 11q12.2 synaptotagmin XII ARHD 11q14.3 ras homolog gene family, member D
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 7884 - 2390 - Davis (2009)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbrain   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one PH domain
  • two calponin homology domain
  • 17 spectrin repeats
  • ankyrin-binding domain
  • HOMOLOGY
    interspecies homolog to murine Spnb3
    Homologene
    FAMILY
  • spectrin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • playing a role in neuronal membrane cytoskeleton
  • tetrameric actin-cross-linking proteins that form an elastic network, termed the membrane skeleton, on the cytoplasmic surface of cellular membranes (Davis 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • stabilizing the glutamate transpirter EAAT4 at the surface of the plasma membrane, and EAAT4 interactor (Perkins 2010)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA5 , SCAR14
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS