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FLASH GENE
Symbol COL11A2 contributors: npt/ - updated : 13-03-2007
HGNC name collagen, type XI, alpha 2
HGNC id 2187
Corresponding disease
DFNA13 neurosensory deafness 13
DFNB53 neurosensory deafness 53
OSMED otospondylomegaepiphyseal dysplasia
STL3 Stickler syndrome, type 3
WZS Weissenbacher-Zweymuller syndrome
Location 6p21.32      Physical location : 4.362.691 - 33.160.245
Synonym name
  • collagen alpha-2
  • pro-a2 chain of collagen type XI
  • collagen alpha-2(XI) chain
    • Synonym symbol(s) PARP, HKE5
    DNA
    TYPE functioning gene
    SPECIAL FEATURE opposite orientation
    text located just upstream of RXRB in a head-to-tail manner (Murai 2008)
    STRUCTURE 29.78 kb     66 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • a chondrocyte specific enhancer, promoter CG rich
  • Sp1 proteins regulate COL11A2 transcription by binding to its proximal promoter
    • MAPPING cloned Y linked N status confirmed
    Map pter - D6S273 - D6S1666 - HLA-DPB2 - COL11A2 - RXRB - SLC39A7 - HSD17B8 - RING1 - D6S1680 - D6S1560 - cen
    Authors McGuirt (99)
    Text see also HKE@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    66 - 6425 171.8 1736 - Kimura (2006)
    64 splicing 6167 163.3 1650 - Kimura (2006)
    lacking exons 6 and 8
    63 splicing 6104 161.3 1629 - Kimura (2006)
    - - 1237 - 290 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland    
    Hearing/Equilibriumearinner   
    Skeletonaxialvertebral columnvertebraenucleus pulposus 
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Connectivebone   
    Connectivecartilagehyaline specific
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal region alpha 1 NPP forming a globular head
  • triple helix repeat
  • an extended tail at the variable C terminal
    • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies ortholog to murine Col11a2
    Homologene
    FAMILY
  • fibrillar collagen family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix, ocular vitreous body
    basic FUNCTION
  • involved in regulation of fibrillogenesis
  • playing an essential role in maintaining the interfibrillar spacing and fibril diameter of type II collagen
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • alpha 2 chain XI, heterotrimerizing with alpha 1 XI and alpha 3 XI, a post translationally modified variant of COL2A1
  • constituent of fibril forming
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STL3 , OSMED , DFNA13 , DFNB53 , WZS
    related resource Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS