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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
Physical map
DKFZp686A17109 Xq22.3 hypothetical protein DKFZp686A17109 SERPINA7 Xq22.2 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 FLJ33516 Xq22.3 hypothetical protein FLJ33516 FLJ10178 Xq22.3 hypothetical protein FLJ10178 RNF128 Xq22.3 ring finger protein 128 FLJ20298 Xq22.3 FLJ20298 protein LOC92129 Xq22.3 hypothetical protein BC007652 CLDN2 Xq22.3-23 claudin 2 ZCWCC2 Xq22.3 zinc finger, CW-type with coiled-coil domain 2 FLJ11016 Xq22.1-24 hypothetical protein FLJ11016 FLJ20130 Xq22.3 hypothetical protein FLJ20130 MGC35261 Xq22.3 hypothetical protein MGC35261 MYCL2 Xq22.1-q22.3 v-myc myelocytomatosis viral oncogene homolog 2 (avian) LOC392516 X similar to Keratin 18 KIAA1817 Xq22 KIAA1817 protein PRPS1 Xq22-q24 phosphoribosyl pyrophosphate synthetase 1 DSIPI Xq22.3 delta sleep inducing peptide, immunoreactor LOC392517 X similar to dJ820B18.1 (similar to nuclear cap binding protein) MID2 Xq22 midline 2 NOD13 Xq22.3 NOD13 pseudogene TEX13B Xq23 testis expressed sequence 13B MGC44287 Xq22.3 hypothetical protein MGC44287 PSMD10 Xq22.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 AUTL2 Xq22.1-q22.3 AUT-like 2, cysteine endopeptidase (S. cerevisiae) COL4A6 Xq22.3 collagen, type IV, alpha 6 COL4A5 Xq22.3 collagen, type IV, alpha 5 (Alport syndrome) IRS4 Xq22.3 insulin receptor substrate 4 LOC392519 X similar to Glyceraldehyde 3-phosphate dehydrogenase (GAPDH) GUCY2F Xq22 guanylate cyclase 2F, retinal NXT2 Xq22.3 nuclear transport factor 2-like export factor 2 LOC347537 Xq23 similar to mitofusin 1 isoform 1 KCNE1L Xq22.3 potassium voltage-gated channel, Isk-related family, member 1-like FACL4 Xq22.3-q23 fatty-acid-Coenzyme A ligase, long-chain 4 LOC392520 X similar to ribosomal protein S5 FLJ22679 Xq22.3 hypothetical protein FLJ22679 AMMECR1 Xq22.3 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1 GNG5ps Xq23 G protein gamma 5-like subunit KIAA1318 Xq23 KIAA1318 protein
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