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FLASH GENE
Symbol CHRDL2 contributors: mct/npt - updated : 03-12-2009
HGNC name chordin-like 2
HGNC id 24168
Location 11q13.4      Physical location : 74.407.474 - 74.442.186
Synonym name
  • breast tumor novel factor 1
  • chordin-related protein 2
  • Synonym symbol(s) BNF1, CHL2, FKSG37, BNF-1, DKFZp586N2124
    DNA
    TYPE functioning gene
    STRUCTURE 34.71 kb     12 Exon(s)
    regulatory sequence Promoter
    text structure
  • first exon of CHL2 contains 5prime UTR sequences, the translation initiation codon, and a cleavable N-terminal signal peptide at positions 125 (Oren 2004)
  • exons 2 and 3 encode for CR1, and exons 4 and 5 encode for CR2. CR3 is encoded by one exon, exon 8 (Oren 2004)
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text
  • variants encoding proteins with or without an N-terminal signal peptide, suggesting the existence of extracellular and intracellular isoforms
  • distinct CHL2 isoforms that differ in their C-termini, the presence of a signal peptide, and the content of their CR domains (Oren 2004)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 1667 - 429 ubiquitous, but not liver kidney, preferentially expressed in chondrocytes of developing cartilage and osteoarthritic joint cartilage Oren (2004)
    variant AY279090
    12 splicing 1699 - 451 ubiquitous but not liver kidney Oren (2004)
    variant 2
    11 splicing 1219 - 308 - Oren (2004)
    variant 3 or AY279091
    9 splicing 1668 - 142 colon uterus Oren (2004)
  • variant 4 or AY279092
  • two CR domains
  • 7 splicing 1415 - 142 uterus bladder Oren (2004)
  • variant 5 or AY279093
  • two CR domains
  • 6 splicing 1321 - 93 colon uterus Oren (2004)
  • variant 6 or AY279094
  • two CR domains
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Reproductivefemale systemuterus  highly
     male systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text in chondrocytes of developing cartilage
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three VWFC domains, with SD1 from VWC1 and VWC3 confering BMP affinity and specificity to the protein (Fujisawa 2009)
  • a hydrophobic N-terminal signal sequence and a cleavage site
  • cysteine-rich repeats specific of several extracellular matrix proteins
  • a signal peptide and three CR domains
  • three chordin-like cysteine-rich repeats domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Chrdl2
    intraspecies paralog to CHRDL1
    Homologene
    FAMILY
  • chordin family
  • bone morphogenetic protein (BMP) superfamily
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • key developmental protein dorsalizing early vertebrate embryonic tissues by binding to ventralizing TGFB family bone morphogenetic proteins (BMPs)
  • playing a role during myoblast and osteoblast differentiation (Oren 2004)
  • with chordin, and BMPER, regulate BMP2 signaling by different recognition mechanisms (Zhang 2007)
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding activin A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast, lung and colon cancer
    constitutional     --over  
    in osteoarthritic joint cartilage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS