Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



COL9A3 Gene

protein-coding   GIFtS: 61
GCID: GC20P061447

Collagen, Type IX, Alpha 3

  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

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Collagen, Type IX, Alpha 31 2     DJ885L7.4.12
Collagen Type IX Proteoglycan1 2     MED2
EDM32 5     Collagen Alpha-3(IX) Chain2
IDD2 5     Collagen IX, Alpha-3 Polypeptide2

External Ids:    HGNC: 22191   Entrez Gene: 12992   Ensembl: ENSG000000927587   OMIM: 1202705   UniProtKB: Q140503   
ORGUL members:         

Export aliases for COL9A3 gene to outside databases

Previous GC identifers: GC20P061325 GC20P062127 GC20P062174 GC20P060918 GC20P058166


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

TryGeneCards Plus

Entrez Gene summary for COL9A3 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. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. (provided
by RefSeq, Jan 2010)

GeneCards Summary for COL9A3 Gene:
COL9A3 (collagen, type IX, alpha 3) is a protein-coding gene. Diseases associated with COL9A3 include col9a3-related multiple epiphyseal dysplasia, and epiphyseal dysplasia, multiple, with myopathy. 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: CO9A3_HUMAN, Q14050
Function: Structural component of hyaline cartilage and vitreous of the eye

Gene Wiki entry for COL9A3 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)
About This Section

TryGeneCards Plus
Regulatory elements:
   Regulatory transcription factor binding sites in the COL9A3 gene promoter:
         AhR   MAZR   HNF-4alpha2   Ik-3   HNF-4alpha1   CP2   POU2F1   POU2F1a   Pax-4a   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL9A3 promoter sequence
   Search Chromatin IP Primers for COL9A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL9A3


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

Entrez Gene cytogenetic band: 20q13.3   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.3

COL9A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL9A3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P061447:  view genomic region     (about GC identifiers)

Start:
61,447,596 bp from pter      End:
61,472,511 bp from pter
Size:
24,916 bases      Orientation:
plus strand

(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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CO9A3_HUMAN, Q14050 (See protein sequence)
Recommended Name: Collagen alpha-3(IX) chain precursor  
Size: 684 amino acids; 63616 Da
Subunit: Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain
Secondary accessions: Q13681 Q9H4G9 Q9UPE2

Explore the universe of human proteins at neXtProt for COL9A3: NX_Q14050

Explore proteomics data for COL9A3 at MOPED

Post-translational modifications: 

  • Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links1
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains1
  • Glycosylation2 at Asn483

  • See COL9A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001844.3  
    ENSEMBL proteins: 
     ENSP00000341640   ENSP00000394280  
    Reactome Protein details: Q14050

    COL9A3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for COL9A3
    OriGene Protein Over-expression Lysate for COL9A3
    OriGene MassSpec for COL9A3
    OriGene Custom Protein Services for COL9A3
    GenScript Custom Purified and Recombinant Proteins Services for COL9A3
    Novus Biologicals COL9A3 Protein
    Novus Biologicals COL9A3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    COL9A3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for COL9A3
    OriGene Custom Antibody Services for COL9A3
    Novus Biologicals COL9A3 Antibodies
    Abcam antibodies for COL9A3
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for COL9A3
    LSBio Antibodies in human, mouse, rat for COL9A3

    COL9A3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for COL9A3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for COL9A3
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    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

    TryGeneCards Plus
    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 Q14050

    ProtoNet protein and cluster: Q14050

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


    UniProtKB/Swiss-Prot: CO9A3_HUMAN, Q14050
    Similarity: Belongs to the fibril-associated collagens with interrupted helices (FACIT) family


    COL9A3 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO9A3_HUMAN, Q14050
    Function: Structural component of hyaline cartilage and vitreous of the eye

         Genatlas biochemistry entry for COL9A3:
    collagen,type IX,alpha 3,fibril associated collagen with interrupted triple helices (FACIT),expressed in cartilage

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030020extracellular matrix structural constituent conferring tensile strength IC8660302
         
    COL9A3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COL9A3:
     Decreased cell number and incr  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL9A3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL9A3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL9A3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL9A3

    miRNA
    Products:
        
    miRTarBase miRNAs that target COL9A3:
    hsa-mir-335-5p (MIRT018445)

    Block miRNA regulation of human, mouse, rat COL9A3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL9A3 (see all 15):
    hsa-miR-30c hsa-miR-98 hsa-let-7d hsa-miR-202 hsa-miR-30d hsa-let-7c hsa-let-7i hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidCOL9A3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COL9A3
    Predesigned siRNA for gene silencing in human, mouse, rat COL9A3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COL9A3

    Clone
    Products:
         
    OriGene clones in human, mouse for COL9A3 (see all 8)
    OriGene ORF clones in mouse, rat for COL9A3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL9A3 (NM_001853)
    Sino Biological Human cDNA Clone for COL9A3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL9A3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL9A3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for COL9A3
    ESI BIO PureStem Progenitor for COL9A3: 
    PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL9A3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CO9A3_HUMAN, Q14050: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular4
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    COL9A3 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for COL9A3 About   (see all 13)  
    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
    2Integrin 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
    3ERK Signaling
    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 matrix0.43
    Extracellular matrix organization0.34
    Collagen degradation0.43
    5L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL9A3 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 BioSystems Pathway for COL9A3
        Gastric cancer network 2


    Selected Reactome Pathways for COL9A3 (see all 6)
        ECM proteoglycans
    Integrin cell surface interactions
    NCAM1 interactions
    Collagen biosynthesis and modifying enzymes
    Signaling by PDGF


    1 Kegg Pathway  (Kegg details for COL9A3):
        Protein digestion and absorption


    COL9A3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL9A3
    Interactions:

        Search GeneGlobe Interaction Network for COL9A3

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

    Selected Interacting proteins for COL9A3 (Q140503 ENSP000003416404) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL9A1P208493, ENSP000003497904I2D: score=1 STRING: ENSP00000349790
    COL2A1P024583, ENSP000003698894I2D: score=2 STRING: ENSP00000369889
    EGFRP005333, ENSP000002754934I2D: score=2 STRING: ENSP00000275493
    MAGP209163I2D: score=2 
    COL10A1ENSP000002432224STRING: ENSP00000243222
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007411axon guidance TAS--
    GO:0008584male gonad development IEA--
    GO:0008585female gonad development IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--

    COL9A3 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)
    About This Section

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

    Browse Tocris compounds for COL9A3 (CO9A3)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for COL9A3 gene: 
    NM_001853.3  

    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477612 ENST00000343916(uc002ydm.3) ENST00000489045 ENST00000452372
    ENST00000463487 ENST00000466192 ENST00000469852 ENST00000490398 ENST00000481800
    ENST00000472880 ENST00000469802 ENST00000462700 ENST00000467819(uc002ydn.3)
    ENST00000466532
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat COL9A3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL9A3 (see all 15):
    hsa-miR-30c hsa-miR-98 hsa-let-7d hsa-miR-202 hsa-miR-30d hsa-let-7c hsa-let-7i hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidCOL9A3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COL9A3
    Predesigned siRNA for gene silencing in human, mouse, rat COL9A3
    Clone
    Products:
         
    OriGene clones in human, mouse for COL9A3 (see all 8)
    OriGene ORF clones in mouse, rat for COL9A3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL9A3 (NM_001853)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL9A3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL9A3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for COL9A3
    OriGene qSTAR qPCR primer pairs in human, mouse for COL9A3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL9A3
      QuantiTect SYBR Green Assays in human, mouse, rat COL9A3
      QuantiFast Probe-based Assays in human, mouse, rat COL9A3

    Selected AceView cDNA sequences (see all 246):

    BC007574 BQ181740 AI479621 BU845715 CD675479 AK075240 BM671205 BQ440712 
    BM710049 BU075803 AI144187 CR619945 BU189363 CA392064 C02023 CA397705 
    AW025918 BQ448331 BU848705 BF062249 CA413116 BQ006213 H88257 BC011705 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for COL9A3    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9
    SP1:        -                                                                     
    SP2:                          -                                                   
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for COL9A3

    (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)
    About This Section

    TryGeneCards Plus

    COL9A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COL9A3 Expression
    About this image


    COL9A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 9 entries
             Mandibular Condyle
             Chondrocyte-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
             Chondrocyte-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             hIPS1
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
             Autopod
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
    COL9A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL9A3 Protein Expression
        Custom PCR Arrays for COL9A3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for COL9A3
    OriGene qSTAR qPCR primer pairs in human, mouse for COL9A3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL9A3
    QuantiTect SYBR Green Assays in human, mouse, rat COL9A3
    QuantiFast Probe-based Assays in human, mouse, rat COL9A3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL9A3

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for COL9A3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col9a31 , 5 collagen, type IX, alpha 31, 5 84.04(n)1
    92.79(a)1
      2 (103.14 cM)5
    128411  NM_009936.21  NP_034066.21 
     1805977905 
    chicken
    (Gallus gallus)
    Aves COL9A31 collagen, type IX, alpha 3 69.97(n)
    76.69(a)
      396242  NM_205305.1  NP_990636.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL9A36
    collagen, type IX, alpha 3
    75(a)
    1 ↔ 1
    4(152432481-152496503)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.118702 Transcribed sequence with weak similarity to protein more 75.94(n)    CF151804.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col9a31 collagen, type IX, alpha 3 63.59(n)
    68.74(a)
      567110  XM_690399.5  XP_695491.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG423426
    --
    27(a)
    1 → many
    3R(12328523-12397082)
    worm
    (Caenorhabditis elegans)
    Secernentea col-996
    Protein COL-99, isoform a (col-99) mRNA, complete ...
    30(a)
    1 → many
    IV(138461-147919) WBGene00000674


    ENSEMBL Gene Tree for COL9A3 (if available)
    TreeFam Gene Tree for COL9A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for COL9A3 gene
    COL25A12  COL19A12  COL9A12  COL22A12  COL13A12  COL9A22  COL16A12  COL21A12  
    COL23A12  
    4 SIMAP similar genes for COL9A3 using alignment to 2 protein entries:     CO9A3_HUMAN (see all proteins):
    COL9A1    COL9A2    FCN2    COL21A1

    COL9A3 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for COL9A3 (see all 1016)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617346511,2,,4
    C,Fother158169366(+) GGGAAC/TGGGTA 2 R W mis16Minor allele frequency- T:0.04NS NA EU 5839
    rs743509201,2
    F--58164579(+) TTTTTT/AGAGGG 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs1492991681,2
    --58164600(+) GGTTCA/GGGGGG 1 -- us2k10--------
    rs1164681301,2
    F--58164662(+) AGGCCA/CGCTGT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs18838491,2
    C,F,A--58164827(+) AGGACT/GTATCC 1 -- us2k18Minor allele frequency- G:0.15NA WA 428
    rs1142402181,2
    F--58164868(+) CTGGTG/ACTGGG 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs1147320871,2
    F--58164986(+) AGGAGG/AGTGGG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1462722441,2
    C--58165149(+) TCACTC/GTCTTG 1 -- us2k10--------
    rs1857125261,2
    --58165158(+) TGCCCA/GGGCAG 1 -- us2k10--------
    rs60107521,2
    C,F--58165163(+) aggcaG/Agagtg 1 -- us2k11Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for COL9A3 (61447596 - 61472511 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL9A3 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2722838CNV Deletion23290073
    esv2722839CNV Deletion23290073
    esv2259099CNV Deletion18987734
    esv1317287CNV Deletion17803354
    nsv428380CNV Loss18775914
    nsv913126CNV Loss21882294
    nsv913073CNV Loss21882294
    dgv4614n71CNV Loss21882294
    nsv470558CNV Loss18288195
    nsv913127CNV Loss21882294

    Human Gene Mutation Database (HGMD): COL9A3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL9A3
    DNA2.0 Custom Variant and Variant Library Synthesis for COL9A3

    (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

    TryGeneCards Plus
    OMIM gene information: 120270   
    OMIM disorders: 600969  603932  
    UniProtKB/Swiss-Prot: CO9A3_HUMAN, Q14050
  • Multiple epiphyseal dysplasia 3 (EDM3) [MIM:600969]: 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. Susceptibility to
    intervertebral disk disease is conferred by variant p.Arg103Trp (PubMed:11308397)

  • Selected diseases for COL9A3 (see all 21):    
    About MalaCards
    col9a3-related multiple epiphyseal dysplasia    epiphyseal dysplasia, multiple, with myopathy    multiple epiphyseal dysplasia, dominant    stickler syndrome, type iv
    intervertebral disc disease    osteochondritis dissecans    scheuermann's disease    lumbar disc disease
    back pain    pseudoachondroplasia    multiple epiphyseal dysplasia    spinal stenosis
    diastrophic dysplasia    skeletal dysplasias    short stature    osteoarthritis
    myopathy    choroiditis    obesity    multiple myeloma

    6 diseases from the University of Copenhagen DISEASES database for COL9A3:
    Multiple epiphyseal dysplasia     Pseudoachondroplasia     Osteochondritis dissecans     Scheuermann's disease
    Osteoarthritis     Diastrophic dysplasia

    COL9A3 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for COL9A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple epiphyseal dysplasia 95.8 2 10090888 (1), 15551337 (1)
    intervertebral disc disease 84.3 4 15167667 (3)
    lumbar disc disease 80.3 2 16133074 (1), 14644861 (1)
    psach 75.5 1 11968079 (1)
    degenerative disc disease 68.7 1 18485784 (1)

    GeneTests: COL9A3
    GeneReviews: COL9A3
    Genetic Association Database (GAD): COL9A3
    Human Genome Epidemiology (HuGE) Navigator: COL9A3 (14 documents)

    Export disorders for COL9A3 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

    TryGeneCards Plus

    PubMed articles for COL9A3 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with COL9A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3. (PubMed id 8586434)1, 2, 3, 9 Brewton R.G.... Mayne R. (Genomics 1995)
    2. COL9A3: A third locus for multiple epiphyseal dysplasia. (PubMed id 10090888)1, 2, 9 Paassilta P.... Ala-Kokko L. (Am. J. Hum. Genet. 1999)
    3. Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. (PubMed id 16133074)1, 4, 9 Solovieva S....RiihimAoki H. (Eur Spine J 2006)
    4. Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients. (PubMed id 15917166)1, 4, 9 Asamura K....Usami S. (Auris Nasus Larynx 2005)
    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. (Spine 2004)
    6. Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen. (PubMed id 12601188)1, 4, 9 Karppinen J....Ala-Kokko L. (Radiology 2003)
    7. COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene-environment interaction. (PubMed id 12461395)1, 4, 9 Solovieva S....RiihimAoki H. (Spine 2002)
    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. (Am. J. Hum. Genet. 2001)
    9. Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants. (PubMed id 10428822)1, 2, 9 Paassilta P....Ala-Kokko L. (J. Biol. Chem. 1999)
    10. Occupational and genetic risk factors associated with intervertebral disc disease. (PubMed id 17471097)1, 4, 9 Virtanen I.M....Ala-Kokko L. (Spine 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 1299 HGNC: 2219 AceView: COL9A3 Ensembl:ENSG00000092758 euGenes: HUgn1299
    ECgene: COL9A3 Kegg: 1299 H-InvDB: COL9A3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for COL9A3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL9A3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for COL9A3 gene:
    Search GeneIP for patents involving COL9A3

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for COL9A3   OriGene RNAi products in human, mouse, rat for COL9A3  
     OriGene qPCR primer pairs and template standards for COL9A3   OriGene Protein Over-expression Lysate for COL9A3  
     OriGene MassSpec something-or-other for COL9A3   OriGene clones in human, mouse for COL9A3  
     OriGene qSTAR qPCR primer pairs in human, mouse for COL9A3   OriGene Purified Protein for COL9A3  
     OriGene ORF clones in mouse, rat for COL9A3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for COL9A3   OriGene Custom Protein Services for COL9A3  

     
     
     Block miRNA regulation of human, mouse, rat COL9A3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing COL9A3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL9A3 Predesigned siRNA for gene silencing in human, mouse, rat COL9A3
     QuantiFast Probe-based Assays in human, mouse, rat COL9A3 QuantiTect SYBR Green Assays in human, mouse, rat COL9A3
     Custom PCR Arrays for COL9A3 Search Chromatin IP Primers for COL9A3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL9A3  Search GeneGlobe Interaction Network for COL9A3
     Regulatory tfbs in COL9A3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for COL9A3 GenScript cDNA clones with any tag delivered in your preferred vector for COL9A3
     GenScript Custom Assay Services for COL9A3 GenScript Custom overexpressing Cell Line Services for COL9A3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for COL9A3 (CO9A3)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for COL9A3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     COL9A3 antibodies
     COL9A3 proteins
     COL9A3 lysates
     Antibodies for COL9A3
     See all of Abcam's Antibodies, Kits and Proteins for COL9A3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     PureStem Progenitor for COL9A3: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL9A3
     SwitchGear 3'UTR luciferase reporter plasmids for COL9A3
     SwitchGear Promoter luciferase reporter plasmids for COL9A3
     Search ThermoFisher Antibodies for COL9A3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL9A3
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL9A3
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL9A3
     LSBio Antibodies in human, mouse, rat for COL9A3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      COL9A3 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4