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FLASH GENE
Symbol COL8A2 contributors: shn/npt - updated : 08-12-2009
HGNC name collagen, type VIII, alpha 2
HGNC id 2216
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 5.01 kb     2 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map pter - D1S441 - D1S2656 - COL8A2 - D1S2729 - D1S472 - cen
Physical map
FLJ23151 1p34.3 hypothetical protein FLJ23151 SFPQ 1pter-p32.3 splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) ZNF262 1p34-p32 zinc finger protein 262 LOC388619 1 similar to ribosomal protein L5; 60S ribosomal protein L5 PKD1-like 1p34.2 polycystic kidney disease 1-like NCDN 1p34.3 neurochondrin MGC49007 PSMB2 1p34.2 proteasome (prosome, macropain) subunit, beta type, 2 FLJ38984 1p34.3 hypothetical protein FLJ38984 CLSPN 1p34.2 claspin homolog (Xenopus laevis) EIF2C4 1p34.3 eukaryotic translation initiation factor 2C, 4 EIF2C1 1p35-p34 eukaryotic translation initiation factor 2C, 1 EIF2C3 1p34.3 eukaryotic translation initiation factor 2C, 3 LOC388620 1 similar to implantation-associated protein TEKT2 1p35.3-p34.1 tektin 2 (testicular) ADPRHL2 1p34.3 ADP-ribosylhydrolase like 2 COL8A2 1p34.3-p32.3 collagen, type VIII, alpha 2 TRAPPC3 1p34.2 trafficking protein particle complex 3 FLJ10350 1p34.3 hypothetical protein FLJ10350 TRAP150 FLJ22938 1p34.3 hypothetical protein FLJ22938 FLJ10647 1p34.3 hypothetical protein FLJ10647 MGC4796 1p34.3 Ser/Thr-like kinase LSM10 1p34.3 U7 snRNP-specific Sm-like protein LSM10 NOR1 1p34.3 oxidored-nitro domain-containing protein MRPS15 1p35-p34.1 mitochondrial ribosomal protein S15 CSF3R 1p34.2-p34.1 colony stimulating factor 3 receptor (granulocyte) GRIK3 1p34.1 glutamate receptor, ionotropic, kainate 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 4443 - 703 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Skin/Tegumentskin    
Visualeyeanterior segmentcornea  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective    
Epithelialbarrier liningcorneal endothelium  
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a triple-helical and a carboxyl non-triple-helical domain
  • one C1q C terminal domain
  • one NC1 and one NC2 domain
  • conjugated GlycoP
    mono polymer homomer , heteromer , trimer
    HOMOLOGY
    interspecies ortholog to Col8a2, Mus musculus
    ortholog to Col8a2, Rattus norvegicus
    ortholog to COL8A2, Pan troglodytes
    Homologene
    FAMILY
  • short chain collagen family
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text vascular subendothelial matrices
    basic FUNCTION
  • playing a role in the structure of cornea
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • a major constituent of Descemet membrane (posterior lining membrane of cornea)
  • a major component of the subendothelial matrix
  • has the potential to improve both initial cell attachment and retention of endothelial cells on vascular grafts in vivo (Turner 2006)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • collagen, type VIII, alpha 1 (COL8A1)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FECD1 , PPCD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS