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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@
    Physical map
    PSMB8 6p21.3 proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7) TAP1 6p21.3 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) PSMB9 6p21.3 proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2) PPP1R2P1 6p21.31 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 LOC389380 6 LOC389380 HLA-DMB 6p21.3 major histocompatibility complex, class II, DM beta HLA-DMA 6p21.3 major histocompatibility complex, class II, DM alpha BRD2 6p21.3 bromodomain containing 2 HLA-DOA 6p21.3 major histocompatibility complex, class II, DO alpha HLA-DPA1 6p21.3 major histocompatibility complex, class II, DP alpha 1 HLA-DPB1 6p21.3 major histocompatibility complex, class II, DP beta 1 RPL32P1 6p21.3 ribosomal protein L32 pseudogene 1 LOC391913 6 similar to MHC HLA-SX-alpha HLA-DPB2 6p21.3 major histocompatibility complex, class II, DP beta 2 (pseudogene) COL11A2 6p21.3 collagen, type XI, alpha 2 RXRB 6p21.3 retinoid X receptor, beta SLC39A7 6p21.3 solute carrier family 39 (zinc transporter), member 7 HSD17B8 6p21.3 hydroxysteroid (17-beta) dehydrogenase 8 RING1 6p21.3 ring finger protein 1 VPS52 6p21.3 vacuolar protein sorting 52 (yeast) B3GALT4 6p21.3 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 RPS18 6p21.3 ribosomal protein S18 C6orf11 6p21.3 chromosome 6 open reading frame 11 D6S2723E 6p21.3 DNA segment on chromosome 6 (unique, pseudogene) 2723 expressed sequence HKE2 6p21.3 HLA class II region expressed gene KE2 RAB2L 6p21.3 RAB2, member RAS oncogene family-like TAPBP 6p21.3 TAP binding protein (tapasin) ZNF297 6p21.3 zinc finger protein 297 DAXX 6p21.3 death-associated protein 6 LOC346177 6p21.31 similar to myosin:SUBUNIT=regulatory light chain
    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