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FLASH GENE
Symbol COL4A3 contributors: mct/npt - updated : 05-01-2010
HGNC name collagen, type IV, alpha 3 (Goodpasture antigen)
HGNC id 2204
Corresponding disease
ATS2 Alport syndrome 2
ATS3 Alport syndrome 3
FBH familial "benign" hematuria
Location 2q36.3      Physical location : 228.029.280 - 228.179.507
Synonym name
  • collagen of basement membrane, alpha 3 chain, tumstatin
  • thick basement membrane (TBM), neuromuscular junction
  • goodpasture antigen
  • tumstatin
  • DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    text head-to head to COL4A4
    STRUCTURE 150.23 kb     52 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure sharing the same promoter with COL4A4
    MAPPING cloned Y linked Y status provisional
    Physical map
    SCG2 2q35-q36 secretogranin II (chromogranin C) LOC391487 2 similar to transcription factor-like protein 4 isoform beta; MAX-like bHLHZIP protein; MAX-like protein X; BigMax protein AP1S3 2q36.3 adaptor-related protein complex 1, sigma 3 subunit WDFY1 2q36.2 WD repeat and FYVE domain containing 1 MRPL44 2q36.3 mitochondrial ribosomal protein L44 SERPINE2 2q33-q35 serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 LOC391488 2 similar to Ubiquitin carboxyl-terminal hydrolase 21 (Ubiquitin thiolesterase 21) (Ubiquitin-specific processing protease 21) (Deubiquitinating enzyme 21) (NEDD8-specific protease) FLJ22746 2q36.3 hypothetical protein FLJ22746 CUL3 2q36.3 cullin 3 DOCK10 2q24.1-q36.3 dedicator of cytokinesis 10 KIAA1486 2q36.3 KIAA1486 protein IRS1 2q36 insulin receptor substrate 1 DKFZp547E052 2q36.3 hypothetical protein DKFZp547E052 COL4A4 2q35-q37.1 collagen, type IV, alpha 4 COL4A3 2q37.1 collagen, type IV, alpha 3 (Goodpasture antigen) LOC389077 2 LOC389077 GL004 2q37.1 LOC389077 FLJ22800 2q36.3 hypothetical protein FLJ22800 HRB 2q36 HIV-1 Rev binding protein DKFZp547H025 2q36.3 hypothetical protein DKFZp547H025 LOC389078 2 hypothetical gene supported by AK125767 SLC19A3 2q37 solute carrier family 19, member 3 CCL20 2q35-q36 chemokine (C-C motif) ligand 20 FLJ25955 2q36.3 hypothetical protein FLJ25955 SKIP 17p13 hypothetical protein FLJ25955 FLJ20701 2q37.1 hypothetical protein FLJ20701 DNER 2q37.1 delta-notch-like EGF repeat-containing transmembrane TRIP12 2q36.1 thyroid hormone receptor interactor 12 LOC130888 FLJ30794 SP110 2q37.1 SP110 nuclear body protein SP140 2q36.1 SP140 nuclear body protein LOC93349 2q37.1 hypothetical protein BC004921 SP100 2q37.1 nuclear antigen SP100 HMG1L3 2q35 high-mobility group (nonhistone chromosomal) protein 1-like 3 LOC389079 2 similar to tropomyosin 3 LOC391489 2 similar to LOC93349 protein MO25 2q37.1 MO25 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    52 - 8096 161.7 1670 - Quinones (1992)
    51 splicing 7923 159.2 1642 - Turner, Quinones (1992)
    lacking exon 51
    49 splicing 7630 145.2 1494 - Turner, Quinones (1992)
    lacking exons 50, 51
    48 splicing 7420 138.1 1424 - Turner, Quinones (1992)
    lacking exons 49, 50, 51, 52
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea  
    Urinarykidneynephronrenal capsuleglomerulus 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryalveoli
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text in the dermo-epidermal 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
  • non collagenous I domain (NC1), tumstatin, endogenous inhibitor of pathological angiogenesis and suppressing tumor growth
  • C terminal peptide seqence inhibiting melanoma cell proliferation
  • HOMOLOGY
    interspecies homolog to murine Col4a3
    Homologene
    FAMILY
  • type IV collagen family
  • CATEGORY structural protein , tumor suppressor
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix protein of glomerular basement membrane, Bowman capsule, distal TBM, neuromuscular junction
    basic FUNCTION
  • functioning as an endothelial cell-specific inhibitor of protein synthesis
  • inhibiting angiogenesis and tumor growth
  • formation of basement membranes
  • functioning as an endogenous inhibitor of pathological angiogenesis and a novel suppressor of proliferating endothelial cells and growth of tumors
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding ITGAV beta 3 (to the inhibition of CAP-dependent translation and protein synthesis)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATS2 , FBH , ATS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS