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COL11A2 Gene

protein-coding   GIFtS: 62
GCID: GC06M033130

Collagen, Type XI, Alpha 2


(Previous symbols: DFNA13, DFNB53)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Collagen, Type XI, Alpha 21 2     HKE52
DFNA131 2 5     PARP2
DFNB531 2 5     Collagen Alpha-2(XI) Chain2
FBCG22 5     Pro-A2 Chain Of Collagen Type XI2
STL32 5     

External Ids:    HGNC: 21871   Entrez Gene: 13022   Ensembl: ENSG000002042487   OMIM: 1202905   UniProtKB: P139423   

Export aliases for COL11A2 gene to outside databases

Previous GC identifers: GC06M033133 GC06M033177 GC06M033238 GC06M032872


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COL11A2 Gene:
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on
chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a
heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic
processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain.
Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED
syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness
(DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing
results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. (provided by
RefSeq, Jul 2009)

GeneCards Summary for COL11A2 Gene:
COL11A2 (collagen, type XI, alpha 2) is a protein-coding gene. Diseases associated with COL11A2 include deafness, autosomal dominant 13, and col11a2-related stickler syndrome. GO annotations related to this gene include extracellular matrix structural constituent conferring tensile strength and protein binding, bridging. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942
Function: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

Gene Wiki entry for COL11A2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  NT_113891.3  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  
NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL11A2 gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL11A2 promoter sequence
   Search Chromatin IP Primers for COL11A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL11A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

COL11A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL11A2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M033130:  view genomic region     (about GC identifiers)

Start:
33,130,458 bp from pter      End:
33,160,276 bp from pter
Size:
29,819 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,NT_167247 4,604,235-4,634,009      Chr6-,NT_167246 4,587,785-4,617,560      Chr6-,NT_167248 4,362,692-4,392,467     
Chr6-,NT_167249 4,610,636-4,637,414      Chr6-,NT_167245 4,411,776-4,441,552      Chr6-,NT_113891.2 4,574,306-4,604,081     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942 (See protein sequence)
Recommended Name: Collagen alpha-2(XI) chain precursor  
Size: 1736 amino acids; 171791 Da
Subunit: Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a
post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II)
Secondary accessions: A6NLX2 E7ER90 Q07751 Q13271 Q13272 Q13273 Q5JP94 Q5SUI8 Q7Z6C3 Q99866
Q9UIP9
Alternative splicing: 9 isoforms:  P13942-1   P13942-2   P13942-3   P13942-4   P13942-5   P13942-6   P13942-7   P13942-8   
P13942-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL11A2: NX_P13942

Explore proteomics data for COL11A2 at MOPED

Post-translational modifications: 

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains1
  • A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during
    extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in
    significant amounts1
  • Glycosylation2 at Asn1604
  • Modification sites at PhosphoSitePlus

  • See COL11A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001157243.1  NP_542410.2  NP_542411.2  NP_542412.2  

    ENSEMBL proteins: 
     ENSP00000363840   ENSP00000405520   ENSP00000378620   ENSP00000339915   ENSP00000350079  
     ENSP00000363846   ENSP00000363845   ENSP00000378623   ENSP00000363844   ENSP00000355123  
    Reactome Protein details: P13942

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    COLLAGEN: Collagens

    5 InterPro protein domains:
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR000885 Fib_collagen_C
     IPR008160 Collagen
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry P13942

    ProtoNet protein and cluster: P13942

    5 Blocks protein domains:
    IPB000885 Fibrillar collagen
    IPB001791 Laminin G
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942
    Domain: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by
    controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen
    fibrils. It binds a calcium ion which is essential for its function (By similarity)
    Similarity: Belongs to the fibrillar collagen family
    Similarity: Contains 8 collagen-like domains
    Similarity: Contains 1 fibrillar collagen NC1 domain
    Similarity: Contains 1 laminin G-like domain


    COL11A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COBA2_HUMAN, P13942
    Function: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

         Genatlas biochemistry entry for COL11A2:
    collagen,type XI,alpha 2,fibril forming,with chondrocyte specific enhancer (see also KE@), expressed in hyaline
    cartilage,in the ocular vitreous, in the nucleus pulposus of the intervertebral disc and in the inner ear,playing
    an essential role in maintaining the interfibrillar spacing and fibril diameter of type II collagen

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent ----
    GO:0005515protein binding IPI17703188
    GO:0030020extracellular matrix structural constituent conferring tensile strength NAS7859284
    GO:0030674protein binding, bridging NAS10677296
    GO:0046872metal ion binding IEA--
         
    COL11A2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COL11A2:
     Increased gamma-H2AX phosphory  Wnt reporter downregulated 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col11a2):
     craniofacial  growth/size/body  hearing/vestibular/ear  skeleton 

    COL11A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col11a2tm1Mne for COL11A2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL11A2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL11A2

    miRNA
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    hsa-miR-194* hsa-miR-125a-5p hsa-miR-513a-5p hsa-miR-765 hsa-miR-128 hsa-miR-3150b-3p hsa-miR-125b hsa-miR-654-5p
    SwitchGear 3'UTR luciferase reporter plasmidCOL11A2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL11A2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL11A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COBA2_HUMAN, P13942: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    plasma membrane2
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005592collagen type XI NAS7859284
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005840ribosome ----

    COL11A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for COL11A2 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Intrinsic Prothrombin Activation Pathway0.39
    Collagen formation0.75
    Blood Coagulation Cascade0.38
    Assembly of collagen fibrils and other multimeric structures0.62
    2Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    3Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL11A2 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    2 BioSystems Pathways for COL11A2
        Focal Adhesion
    Neural Crest Differentiation

    4 Reactome Pathways for COL11A2
        Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Non-integrin membrane-ECM interactions
    Collagen degradation


    5 Kegg Pathways  (Kegg details for COL11A2):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL11A2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL11A2
    Interactions:

        GeneGlobe Interaction Network for COL11A2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    Selected Interacting proteins for COL11A2 (P139421, 2, 3 ENSP000003638404) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDR2Q168321, 2, 3EBI-2515504,EBI-1381484 MINT-5222456 MINT-6167968 I2D: score=1 
    ANXA7P200732, 3MINT-8248142 I2D: score=2 
    PIN1Q135262, 3MINT-8266425 I2D: score=2 
    TK1P041832, 3MINT-8273136 I2D: score=2 
    WDR20Q8TBZ33, ENSP000003354344I2D: score=2 STRING: ENSP00000335434
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS7859284
    GO:0001503ossification ----
    GO:0001894tissue homeostasis ----
    GO:0002062chondrocyte differentiation ----
    GO:0007605sensory perception of sound IMP10581026

    COL11A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COL11A2 (COBA2)

    2 Novoseek inferred chemical compound relationships for COL11A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 22.7 6 8325374 (2), 2243097 (1)
    arginine 0 4 2243097 (2), 7859284 (1)



    COL11A2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COL11A2 gene (4 alternative transcripts): 
    NM_001163771.1  NM_080679.2  NM_080680.2  NM_080681.2  

    Unigene Cluster for COL11A2:

    Collagen, type XI, alpha 2
    Hs.390171  [show with all ESTs]
    Unigene Representative Sequence: NM_080680
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374708(uc003ocy.1) ENST00000477772(uc010jul.1) ENST00000457788
    ENST00000395194(uc003oda.3) ENST00000341947(uc003ocx.1) ENST00000357486
    ENST00000374714 ENST00000374713 ENST00000395197 ENST00000374712 ENST00000361917(uc003ocz.1)

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    hsa-miR-194* hsa-miR-125a-5p hsa-miR-513a-5p hsa-miR-765 hsa-miR-128 hsa-miR-3150b-3p hsa-miR-125b hsa-miR-654-5p
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    Additional mRNA sequence: 

    AK130938.1 BC053886.1 J04974.1 L18987.1 

    7 DOTS entries:

    DT.100744968  DT.92414765  DT.410831  DT.100009850  DT.100661340  DT.91751147  DT.99955119 

    Selected AceView cDNA sequences (see all 96):

    BC053886 BQ181700 AI689068 AW273324 AI915174 AW243806 BE672406 AL046059 
    BQ044924 CA415316 BQ181070 AI954682 AA350491 BQ448223 AI056670 AU118605 
    CB044233 BQ181816 CA414689 AU118676 BU164080 AI741176 BQ185768 CA414513 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COL11A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGACTGATG
    COL11A2 Expression
    About this image


    COL11A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 21 entries
             Prechondrocytes Autopod Epiphyseal End
             HyStem+BMP4-induced 4D20.8 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 20 entries
             Chondrocytes Synchondroses
             HyStem+BMP4-induced 4D20.8 cells
     
     Head Mesenchyme (Muscoskeletal System)
             Chondrocytes Branchial Arch 2
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
    COL11A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL11A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.390171
        Custom PCR Arrays for COL11A2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL11A2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for COL11A2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col11a21 , 5 collagen, type XI, alpha 21, 5 85.51(n)1
    91.09(a)1
      17 (17.98 cM)5
    128151  NM_009926.11  NP_034056.11 
     340394375 
    lizard
    (Anolis carolinensis)
    Reptilia COL11A26
    collagen, type XI, alpha 2
    68(a)
    1 ↔ 1
    GL343857.1(59173-151096)
    zebrafish
    (Danio rerio)
    Actinopterygii col11a21 collagen type XI alpha-2 71.72(n)
    80.19(a)
      561679  NM_001079992.1  NP_001073461.1 


    ENSEMBL Gene Tree for COL11A2 (if available)
    TreeFam Gene Tree for COL11A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL11A2 gene
    COL4A62  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  COL5A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    15 SIMAP similar genes for COL11A2 using alignment to 11 protein entries:     COBA2_HUMAN (see all proteins):
    COL11A1    COL5A1    COL5A3    COL17A1    COL6A2    COL14A1
    C1QTNF9    C1QTNF9B    SFTPD    COL7A1    COL1A1    DKFZp434L081
    OTOL1    COL10A1    COL23A1

    COL11A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COL11A2 (see all 925)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0252764
    Deafness, autosomal recessive, 53 (DFNB53)4--see VAR_0252762 P T mis40--------
    VAR_0106564
    Deafness, autosomal dominant, 13 (DFNA13)4--see VAR_0106562 R C mis40--------
    VAR_0135954
    Weissenbacher-Zweymueller syndrome (WZS)4--see VAR_0135952 G E mis40--------
    VAR_0019074
    Otospondylomegaepiphyseal dysplasia (OSMED)4--see VAR_0019072 G R mis40--------
    VAR_0106554
    Deafness, autosomal dominant, 13 (DFNA13)4--see VAR_0106552 G E mis40--------
    rs1219129491,2
    Cpathogenic133057490(-) CCTGTA/C/TGGGGA 6 * S stg11NA 4544
    rs1384243161,2
    --32904291(+) CACCGA/GAGAGA 4 -- us2k10--------
    rs1869815651,2
    --32904495(+) GTCTGG/TGTCTG 4 -- us2k10--------
    rs119704031,2
    H--32904542(+) CATGAA/GGAAGG 4 -- us2k10--------
    rs616692641,2
    C,F--32904585(+) AAAAAC/GAGATG 4 -- us2k13Minor allele frequency- G:0.03WA NA EU 5983

    HapMap Linkage Disequilibrium report for COL11A2 (33130458 - 33160276 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for COL11A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv885767CNV Loss21882294
    nsv885768CNV Loss21882294
    nsv348539CNV Loss16902084
    nsv528907CNV Loss19592680

    Human Gene Mutation Database (HGMD): COL11A2
    Locus Specific Mutation Databases (LSDB): COL11A2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL11A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL11A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 120290   
    OMIM disorders: 184840  215150  277610  601868  609706  614524  
    UniProtKB/Swiss-Prot: COBA2_HUMAN, P13942
  • Stickler syndrome 3 (STL3) [MIM:184840]: An autosomal dominant non-ocular form of Stickler syndrome.
    Classical Stickler syndrome associates ocular signs with more or less complete forms of Pierre Robin sequence,
    bone disorders and sensorineural deafness. Ocular symptoms are absent. Robin sequence includes an opening in the
    roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones
    are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed
    by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more
    severe over time. Syndrome expressivity is variable. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]: A skeletal dysplasia characterized by enlarged
    epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and sensorineural hearing
    loss. Patients have typical facial features, including mid-face hypoplasia with a short upturned nose and
    depressed nasal bridge. Cleft palate and a small mandible are also common findings. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]: An autosomal dominant disorder characterized by
    neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri, and regression of
    bone changes and normal growth in later years. WZS is also referred to as heterozygous OSMED. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]: A form of non-syndromic sensorineural deafness
    characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage
    to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives
    sound information. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Fibrochondrogenesis 2 (FBCG2) [MIM:614524]: A severe skeletal dysplasia characterized by a flat midface,
    short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic
    posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral
    radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always,
    result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate
    hearing loss, and severe skeletal dysplasia. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for COL11A2 (see all 50):    
    About MalaCards
    deafness, autosomal dominant 13    col11a2-related stickler syndrome    dfna13 nonsyndromic hearing loss and deafness    fibrochondrogenesis 2
    weissenbacher-zweymuller syndrome    stickler syndrome, type 3    otospondylomegaepiphyseal dysplasia    deafness, autosomal recessive 53
    fibrochondrogenesis    ossification of the posterior longitudinal ligament of the spine    stickler syndrome, type 2    marshall syndrome
    spinal stenosis    wagner syndrome    intervertebral disc disease    stickler syndrome
    macroglossia    pierre robin sequence    osteochondrodysplasia    back pain

    5 diseases from the University of Copenhagen DISEASES database for COL11A2:
    Stickler syndrome     Osteochondrodysplasia     Sensorineural hearing loss     Nonsyndromic deafness
    Myopia

    COL11A2 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for COL11A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osmed 96.2 15 10677296 (3), 9805126 (2), 15558753 (2), 9188673 (1) (see all 7)
    weissenbacher-zweymuller syndrome 90.4 4 9805126 (3), 15558753 (1)
    osteochondrodysplasias 72.3 1 7859284 (1)
    collagen fibril 48.2 1 16752401 (1)
    osteoarthritis 45.2 2 18381781 (1), 7859284 (1)
    hearing loss sensorineural 43 1 7859284 (1)
    chondrosarcoma 30.7 1 12024037 (1)
    dysplasia 30.1 2 9188673 (1), 16637051 (1)
    cleft palate 25.8 2 12673280 (2)
    tumors 5.25 2 15986430 (1), 8658251 (1)

    GeneTests: COL11A2
    GeneReviews: COL11A2
    Genetic Association Database (GAD): COL11A2
    Human Genome Epidemiology (HuGE) Navigator: COL11A2 (21 documents)

    Export disorders for COL11A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for COL11A2 gene, integrated from 10 sources (see all 113):
    (articles sorted by number of sources associating them with COL11A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. (PubMed id 7859284)1, 2, 4, 9 Vikkula M.... Brunner H.G. (Cell 1995)
    2. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). (PubMed id 10581026)1, 2, 3 McGuirt W.T.... Smith R.J.H. (Nat. Genet. 1999)
    3. The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens. (PubMed id 7559422)1, 2, 3 Vuoristo M.M....Ala-Kokko L. (J. Biol. Chem. 1995)
    4. The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene. (PubMed id 8838804)1, 2, 9 Lui V.C.... Cheah K.S. (Genomics 1996)
    5. Molecular cloning of PARP (proline/arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2(XI) chain. (PubMed id 8325374)1, 2, 9 Zhidkova N.I.... Mayne R. (FEBS Lett. 1993)
    6. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. (PubMed id 16033917)1, 2, 9 Chen W.... Smith R.J.H. (J. Med. Genet. 2005)
    7. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. (PubMed id 10677296)1, 2, 9 Melkoniemi M.... Ala-Kokko L. (Am. J. Hum. Genet. 2000)
    8. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen. (PubMed id 9506662)1, 2, 9 Sirko-Osadsa D.A....Robin N.H. (J. Pediatr. 1998)
    9. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymueller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). (PubMed id 9805126)1, 2, 9 Pihlajamaa T.... Ala-Kokko L. (Am. J. Med. Genet. 1998)
    10. Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine. (PubMed id 11289713)1, 4, 9 Maeda S....Inoue I. (J. Hum. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1302 HGNC: 2187 AceView: COL11A2 Ensembl:ENSG00000204248 euGenes: HUgn1302
    ECgene: COL11A2 Kegg: 1302 H-InvDB: COL11A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for COL11A2 Pharmacogenomics, SNPs, Pathways
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL11A2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL11A2 gene:
    Search GeneIP for patents involving COL11A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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