Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol COL4A4 contributors: mct/npt - updated : 05-01-2010
HGNC name collagen, type IV, alpha 4
HGNC id 2206
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
text head to head with COL4A3
STRUCTURE 161.85 kb     48 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure sharing the same promoter with COL4A3
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
text two transcripts, differing only in their transcription start sites, have been identified for this gene and multiple polyadenylation sites are found in the 3' UTR
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
48 - 10341 - 1690 - Kamagata (1992)
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
 stomach   highly
Hearing/Equilibriumearinnercochlea  
Urinarykidneynephronrenal capsuleglomerulusmoderately
 kidneynephronrenal capsuleBowman s capsule 
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective    
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text preferentially in early development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 38-residue putative signal peptide
  • a short N-terminal triple-helical 7S domain
  • a 1421-residue collagenous domain wih frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix)
  • hydroxylation of prolines at the third position of the tripeptide repeating unit (G-X-Y) in some or all of the chains
  • two COL4C (collagen IV C-terminal) domains
  • conjugated GlycoP , Other
    HOMOLOGY
    interspecies ortholog to murine Col4a4
    homolog to C. elegans let-2
    Homologene
    FAMILY
  • type IV collagen family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • glomerular basement membrane
  • distal TBM
  • neuromuscular junction
  • extracellular matrix
  • basic FUNCTION
  • a potential role in dermoepidermal junction (DEJ) formation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • being the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATS2 , FBH , ATS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS