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FLASH GENE
Symbol BICD2 contributors: mct - updated : 12-07-2013
HGNC name bicaudal D homolog 2 (Drosophila)
HGNC id 17208
Corresponding disease
SMALED2 extremity-predominant spinal muscular atrophy-2
Location 9q22.31      Physical location : 95.473.644 - 95.527.083
Synonym name
  • coiled-coil protein BICD2
  • homolog of Drosophila bicaudal D
  • cDNA sequence,expressed in brain,88kDa,related to Bic D protein
  • cytoskeleton-like bicaudal D protein homolog 2
  • Synonym symbol(s) KIAA0699
    DNA
    TYPE functioning gene
    STRUCTURE 53.44 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    ROR2 9q22.3 receptor tyrosine kinase-like orphan receptor 2 LOC347318 9q22.31 similar to 60S ribosomal protein L21 SPTLC1 9q22.1-q22.2 serine palmitoyltransferase, long chain base subunit 1 LOC389772 9 similar to Osteotesticular phosphatase; protein tyrosine phosphatase, receptor type, V LOC392368 9 similar to KIAA1553 protein LOC138652 9q22.32 similar to bA62C3.1 (similar to testicular serine protease) IARS 9q21 isoleucine-tRNA synthetase C9orf34 9q22.32 chromosome 9 open reading frame 34 OGN 9q22.3 osteoglycin (osteoinductive factor, mimecan) OMD 9p22.3 osteomodulin ASPN 9q22-q31 asporin (LRR class 1) ECM2 9q22.3 extracellular matrix protein 2, female organ and adipocyte specific C9orf12 9q21.33-q22.31 chromosome 9 open reading frame 12 BICD2 9q22.1-q22.3 chromosome 9 open reading frame 12 ANKRD19 9q22.32 ankyrin repeat domain 19 BA526D8.4 9q22.32 KRAB box containing C2H2 type zinc finger bA526D8.4 LOC389773 9 LOC389773 LOC340518 9q22.32 similar to Alox15 protein FGD3 9q22 FGD1 family, member 3 MGC26847 LOC389774 9 LOC389774 MGC11115 9q22.32 hypothetical protein MGC11115 LOC389775 9 LOC389775 NINJ1 9q22.3 ninjurin 1 PRKWNK2 9q22.3 protein kinase, lysine deficient 2 C9orf10OS 9q22.32 chromosome 9 open reading frame 10 opposite strand C9orf10 9q22.31 chromosome 9 open reading frame 10 PHF2 9q22.31 PHD finger protein 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 4625 - 824 - 2002 11864968
    7 - 6433 - 855 - 2002 11864968
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbraindiencephalonamygdala  
     brainhindbraincerebellum  
     braindiencephalonhypothalamus  
     braindiencephalonthalamus  
     spinal cord   highly Homo sapiens
    Reproductivemale systemtestis   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminus (BICD2-N) strongly promotes stable interaction between dynein and dynactin
  • five coiled-coil domains
  • C-terminal coiled-coil domain interacts with various cargos, such as RAB6A
  • HOMOLOGY
    interspecies homolog to Drosophila bicaudal D
    intraspecies homolog to Bic D protein
    Homologene
    FAMILY
  • BicD family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • playing a role associated with cell cycle independent microtubule dynamics
  • evolutionary conserved motor-adaptor protein, is implicated in dynein-mediated transport as a molecular linker between the dynein motor and various cargos
  • cytoplasmic conserved motor-adaptor protein involved in anterograde and retrograde transport
  • has roles in the synaptic vesicle and membrane traffic and Golgi structure
  • essential in dynein-dynactin microtubule transport, in clathrin-mediated synaptic-vesicular recycling, and in the Golgi network, and crucial for the functional integrity of lower motor neurons
  • its function is essential for motor neuron physiology
  • key adaptor protein that interacts with the dynein-dynactin motor complex, which facilitates trafficking of cellular cargos that are critical to motor neuron development and maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with NEK9
  • with GOPC and DCTN1, interacting with RAB6A (Bergrede 2009)
  • BICD2, dynactin, and PAFAH1B1 cooperate in regulating dynein recruitment to cellular structures
  • ASUN controls dynein localization via a mechanism distinct from that of either BICD2 or CENPF
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SMALED2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • transgenic mice with neuron-specific expression of Bicaudal D2 N-terminus (Bicd2-N) did not develop signs of motor neuron degeneration and motor abnormalities