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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COL9A2 Gene

protein-coding   GIFtS: 61
GCID: GC01M040766

Collagen, Type IX, Alpha 2


(Previous symbol: EDM2)
  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)
About This Section

Aliases
Collagen, Type IX, Alpha 21 2     STL52
EDM21 2 5     Alpha 2 Type IX Collagen2
DJ39G22.42     Collagen Alpha-2(IX) Chain2
MED2     Collagen IX, Alpha-2 Polypeptide2

External Ids:    HGNC: 22181   Entrez Gene: 12982   Ensembl: ENSG000000490897   OMIM: 1202605   UniProtKB: Q140553   

Export aliases for COL9A2 gene to outside databases

Previous GC identifers: GC01M040801 GC01M039769 GC01M040228 GC01M040179 GC01M040435 GC01M040538 GC01M038884


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL9A2 Gene:
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline
cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen,
a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a
covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal
dysplasia. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL9A2 Gene: 
COL9A2 (collagen, type IX, alpha 2) is a protein-coding gene. Diseases associated with COL9A2 include intervertebral disc disease, and lumbar disc degeneration, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and FAK1 Signaling. GO annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL25A1.

UniProtKB/Swiss-Prot: CO9A2_HUMAN, Q14055
Function: Structural component of hyaline cartilage and vitreous of the eye

Gene Wiki entry for COL9A2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL9A2 gene promoter:
         Elk-1   Sp1   AML1a   Olf-1   LUN-1   GATA-1   AREB6   HEN1   NRF-2   Ik-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL9A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL9A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL9A2


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

Entrez Gene cytogenetic band: 1p33-p32   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p33-p32

COL9A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL9A2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M040766:  view genomic region     (about GC identifiers)

Start:
40,766,159 bp from pter      End:
40,783,488 bp from pter
Size:
17,330 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CO9A2_HUMAN, Q14055 (See protein sequence)
Recommended Name: Collagen alpha-2(IX) chain precursor  
Size: 689 amino acids; 65131 Da
Subunit: Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: B2RMP9

Explore the universe of human proteins at neXtProt for COL9A2: NX_Q14055

Explore proteomics data for COL9A2 at MOPED 

Post-translational modifications:

  • UniProtKB: Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links
  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14055

  • COL9A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL9A2 Protein Expression
    REFSEQ proteins: NP_001843.1  
    ENSEMBL proteins: 
     ENSP00000361834   ENSP00000407377   ENSP00000388493   ENSP00000361821  
    Reactome Protein details: Q14055
    Human Recombinant Protein Products for COL9A2: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005594collagen type IX IDA8660302
    GO:0005788endoplasmic reticulum lumen TAS--

    COL9A2 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    COLPG: Proteoglycans / Extracellular Matrix : Collagen proteoglycans
    COLLAGEN: Collagens

    1 InterPro protein domain:
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q14055

    ProtoNet protein and cluster: Q14055

    2 Blocks protein domains:
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO9A2_HUMAN, Q14055
    Similarity: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family


    COL9A2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO9A2_HUMAN, Q14055
    Function: Structural component of hyaline cartilage and vitreous of the eye

         Genatlas biochemistry entry for COL9A2:
    collagen,type IX,alpha 2,fibril associated collagen with interrupted triple helices (FACIT),expressed in cartilage

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030020extracellular matrix structural constituent conferring tensile strength IC8660302
         
    COL9A2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COL9A2:
     Decreased DCP1a protein expres  Increased gamma-H2AX phosphory 

    Animal Models:
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    Chondrogenic Package E15, Chondrogenic Package MEL2,
    Chondrogenic Package SK11, Chondrogenic Package SM30,
    PureStem 7PEND24, NCr-fac & Meso-prx Progenitor, PureStem 7SMOO32, NCr-fac & Meso Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL9A2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COL9A2 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Extracellular matrix organization0.39
    Collagen formation0.74
    Blood Coagulation Cascade0.39
    Intrinsic Prothrombin Activation Pathway0.40
    2Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    3Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.79
    Degradation of collagen0.79
    5Axon guidance
    Axon guidance0.69
    Developmental Biology0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for COL9A2
        Selected targets of ESR1

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL9A2 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway


    5/12        Reactome Pathways for COL9A2 (see all 12)
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Collagen formation
    Degradation of collagen


    1         Kegg Pathway  (Kegg details for COL9A2):
        Protein digestion and absorption


    COL9A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL9A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/45 Interacting proteins for COL9A2 (Q140553 ENSP000003618344) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL9A1P208493, ENSP000003497904I2D: score=1 STRING: ENSP00000349790
    COL2A1P024583, ENSP000003698894I2D: score=2 STRING: ENSP00000369889
    NOA1Q8NC603, ENSP000002642304I2D: score=4 STRING: ENSP00000264230
    FEZ1Q996893I2D: score=4 
    HAP1P542573I2D: score=3 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS10364514
    GO:0007411axon guidance TAS--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--

    COL9A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    COL9A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL9A2 (CO9A2)

    2 Novoseek inferred chemical compound relationships for COL9A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    col 3 86.5 1 10090888 (1)
    glutamine 7.77 1 11805640 (1)

    Search CenterWatch for drugs/clinical trials and news about COL9A2 / CO9A2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COL9A2 gene: 
    NM_001852.3  

    Unigene Cluster for COL9A2:

    Collagen, type IX, alpha 2
    Hs.418012  [show with all ESTs]
    Unigene Representative Sequence: BC041479
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372748(uc001cfh.1) ENST00000482722(uc001cfi.1) ENST00000466267
    ENST00000427563 ENST00000488463 ENST00000417105 ENST00000496215 ENST00000372736
    ENST00000461118 ENST00000490132 ENST00000495948
    miRNA
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    Additional mRNA sequence: 

    AK021682.1 BC041479.1 BC065715.1 BC136326.1 BC136327.1 M95610.1 

    8 DOTS entries:

    DT.453284  DT.100781754  DT.91988516  DT.102828128  DT.92423205  DT.100650897  DT.99988192  DT.121348861 

    24/122 AceView cDNA sequences (see all 122):

    BM670695 AA605000 AI815378 AI802108 BQ774324 AA488854 AI277434 CD672813 
    CD722241 AI292185 AW163711 BQ181321 AI733465 AI003467 BM676391 CD722372 
    BX119530 BC041479 CD675253 AI291668 NM_001852 CD672313 BX391510 BM544838 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for COL9A2 (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                    -           -     -     -     -                                                                                                         
    SP4:                    -                                                                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for COL9A2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL9A2 expression in normal human tissues (normalized intensities)      COL9A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCACCTCGG
    COL9A2 Expression
    About this image


    COL9A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 32 entries
             Chondrocytes Sacral Vertebrae
             Thoracic Rib
             HyStem+BMP4-induced 4D20.8 cells
             skeleton/pectoral girdle and thoracic body wall   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 32 entries
             Chondrocytes Sacral Vertebrae
             HyStem+BMP4-induced 4D20.8 cells
             skeleton/pectoral girdle and thoracic body wall   
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 5 entries
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
             skeleton/axial skeleton/sacral region   
     
     Somite (Muscoskeletal System)    fully expand to see all 4 entries
             skeleton/axial skeleton/sacral region   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Retina
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   

    See COL9A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL9A2

    SOURCE GeneReport for Unigene cluster: Hs.418012
        SABiosciences Custom PCR Arrays for COL9A2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL9A2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for COL9A2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col9a21 , 5 collagen, type IX, alpha 21, 5 86.64(n)1
    91.4(a)1
      4 (56.78 cM)5
    128401  NM_007741.21  NP_031767.21 
     1210393855 
    chicken
    (Gallus gallus)
    Aves COL9A21 collagen, type IX, alpha 2 71.78(n)
    78.76(a)
      396524  XM_001233986.2  XP_001233987.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    80(a)
    79(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    GL343498.1(311795-319372)
    GL343498.1(319704-332310)
    zebrafish
    (Danio rerio)
    Actinopterygii AY113700.12   -- 72.16(n)    AY113700.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mec-56
    Protein MEC-5
    31(a)
    1 → many
    X(15944009-15948951)


    ENSEMBL Gene Tree for COL9A2 (if available)
    TreeFam Gene Tree for COL9A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL9A2 gene
    COL25A12  COL19A12  COL9A12  COL22A12  COL13A12  COL9A32  COL16A12  COL21A12  
    COL23A12  
    9 SIMAP similar genes for COL9A2 using alignment to 5 protein entries:     CO9A2_HUMAN (see all proteins):
    COL9A1    COL9A3    FCN2    C1QTNF9    C1QTNF9B    MARCO
    COL7A1    COL28A1    COL6A3

    COL9A2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/610 SNPs in COL9A2 are shown (see all 610)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0126584
    Intervertebral disc disease (IDD)4--see VAR_0126582 Q W mis40--------
    rs1503805531,2
    --38884158(+) TGGTAC/GAGATC 1 -- ds50010--------
    rs752547571,2
    C,F--38884184(+) TCTCCC/TGGACT 1 -- ds50011Minor allele frequency- T:0.08WA 118
    rs1828630391,2
    C--38884302(+) ACACCA/GTGGGT 1 -- ds50010--------
    rs1381060261,2
    C--38884311(+) GTGCTA/GAAACT 1 -- ds50010--------
    rs1490848611,2
    C--38884346(+) ACCCCA/GGCGAG 1 -- ds50010--------
    rs1431527091,2
    C--38884770(+) TATGCA/GAGAAA 1 -- ut310--------
    rs1385606461,2
    --38884787(+) GGAGAC/TGATGT 1 -- ut310--------
    rs752910551,2
    C,F--38884805(+) CTGAGC/TTGGGA 1 -- ut311Minor allele frequency- T:0.14WA 118
    rs2008908761,2
    --38884828(+) AGTAG-/TGGGGC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for COL9A2 (40766159 - 40783488 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for COL9A2: --

    Human Gene Mutation Database (HGMD): COL9A2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL9A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL9A2

    (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.)
    About This Section
    OMIM gene information: 120260   
    OMIM disorders: 600204  603932  
    UniProtKB/Swiss-Prot: CO9A2_HUMAN, Q14055
  • Multiple epiphyseal dysplasia 2 (EDM2) [MIM:600204]: A generalized skeletal dysplasia associated with
    significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs
    and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal
    ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly
    categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by
    shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle,
    hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that
    are normal and stature that is normal or near-normal. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration
    of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Stickler syndrome 5 (STL5) [MIM:614284]: An autosomal recessive form of Stickler syndrome, an inherited
    disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders
    and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment,
    mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre
    Robin sequence. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/30 diseases for COL9A2 (see all 30):    About MalaCards
    intervertebral disc disease    lumbar disc degeneration    col9a2-related stickler syndrome    col9a2-related multiple epiphyseal dysplasia
    autosomal recessive stickler syndrome    lumbar disc disease    multiple epiphyseal dysplasia, dominant    back pain
    osteochondritis dissecans    pierre robin sequence    pseudoachondroplasia    atelosteogenesis
    multiple epiphyseal dysplasia    stickler syndrome    campomelic dysplasia    vitreoretinal degeneration
    spinal stenosis    diastrophic dysplasia    leiomyomatosis    retinal detachment

    7 diseases from the University of Copenhagen DISEASES database for COL9A2:
    Multiple epiphyseal dysplasia     Pseudoachondroplasia     Osteoarthritis     Diastrophic dysplasia
    Osteochondritis dissecans     Campomelic dysplasia     Stickler syndrome

    COL9A2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for COL9A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple epiphyseal dysplasia 97 7 8702162 (1), 16440132 (1), 9605591 (1), 8528240 (1) (see all 6)
    intervertebral disc disease 87.9 7 15167667 (3), 10411504 (2), 11118298 (1)
    psach 85.9 1 11968079 (1)
    lumbar disc disease 81.3 3 16133074 (1), 14644861 (1), 17024315 (1)
    rheumatoid arthritis 0 2 16249825 (1)

    GeneTests: COL9A2
    GeneReviews: COL9A2
    Genetic Association Database (GAD): COL9A2
    Human Genome Epidemiology (HuGE) Navigator: COL9A2 (20 documents)

    Export disorders for COL9A2 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)
    About This Section

    PubMed articles for COL9A2 gene, integrated from 9 sources (see all 79):
    (articles sorted by number of sources associating them with COL9A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An allele of COL9A2 associated with intervertebral disc disease. (PubMed id 10411504)1, 2, 4, 9 Annunen S.... Ala-Kokko L. (1999)
    2. Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1. (PubMed id 8454052)1, 2, 3, 9 Peraelae M.... Vuorio E. (1993)
    3. Association study of COL9A2 with lumbar disc disease in the Japanese population. (PubMed id 17024315)1, 4, 9 Seki S....Ikegawa S. (2006)
    4. The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population. (PubMed id 16249825)1, 4, 9 Takata Y....Yasui N. (2006)
    5. The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. (PubMed id 15167667)1, 4, 9 Kales S.N....Christiani D.C. (2004)
    6. Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. (PubMed id 10364514)1, 2, 9 Holden P.... Briggs M.D. (1999)
    7. Expression of the Trp2 allele of COL9A2 is associated with alterations in the mechanical properties of human intervertebral discs. (PubMed id 18246003)1, 4, 9 Aladin D.M....Lu W.W. (2007)
    8. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. (PubMed id 11565064)1, 2, 9 Czarny-Ratajczak M.... Ala-Kokko L. (2001)
    9. Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule. (PubMed id 9707347)1, 2, 9 Pihlajamaa T....Ala-Kokko L. (1998)
    10. The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration. (PubMed id 16371896)1, 4, 9 Jim J.J....Chan D. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1298 HGNC: 2218 AceView: COL9A2 Ensembl:ENSG00000049089 euGenes: HUgn1298
    ECgene: COL9A2 Kegg: 1298 H-InvDB: COL9A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL9A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL9A2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL9A2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL9A2 gene:
    Search GeneIP for patents involving COL9A2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Regulatory tfbs in COL9A2 promoter
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     Cell Lines associated with COL9A2: Chondrogenic Package 4D20.8,
    Chondrogenic Package 7PEND24, Chondrogenic Package 7SMOO32,
    Chondrogenic Package E15, Chondrogenic Package MEL2,
    Chondrogenic Package SK11, Chondrogenic Package SM30,
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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