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FLASH GENE
Symbol COL4A6 contributors: - updated : 19-03-2007
HGNC name collagen, type IV, alpha 6
HGNC id 2208
Corresponding disease
ATSDL Alport syndrome with diffuse leiomyomatosis
Location Xq22.3      Physical location : 107.398.837 - 107.682.704
Synonym name collagen alpha-6
Synonym symbol(s) MGC88184
DNA
TYPE functioning gene
STRUCTURE 283.00 kb     45 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map see COL4A5
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 6574 163 1691 - Ikeda
  • utilizes alternative exon 1A resulting in a different 5'UTR and signal peptide
  • - - 6689 - 1690 - Ikeda
  • utilizes alternative exon 1B resulting in a different 5'UTR and signal peptide
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    digestiveesophagus    
    Respiratorylung    
    Urinarykidneynephron   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text in the dermoepidermal junction during fetal skin development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • meshwork forming collagen with a GLy-X-Y repeat sequence interspersed by small interruptions
  • HOMOLOGY
    interspecies homolog to murine Col4a6
    Homologene
    FAMILY collagen family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • inhibiting angiogenesis and tumor growth
  • formation of the basement membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATSDL
    Susceptibility to colorectal cancer
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS