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FLASH GENE
Symbol VWA3B contributors: mct - updated : 18-10-2016
HGNC name von Willebrand factor A domain containing 3B
HGNC id 28385
Corresponding disease
SCAR22 spinocerebellar ataxia, autosomal recessive 22
Location 2q11.2      Physical location : 98.703.594 - 98.929.408
Synonym symbol(s) SCAR22
DNA
TYPE functioning gene
STRUCTURE 243.54 kb     28 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 4765 - 1294 - 2016 26157035
- - 3657 - 951 - 2016 26157035
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • critical role for VWA3B in the apoptosis pathway in neuronal tissues
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR22
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS