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

COL9A3 Gene

protein-coding   GIFtS: 63
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

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   

Export aliases for COL9A3 gene to outside databases

Previous GC identifers: GC20P061325 GC20P062127 GC20P062174 GC20P060918 GC20P058166


(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 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 back pain, and col9a3-related multiple epiphyseal dysplasia, 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: 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011333.6  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COL9A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
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:

  • 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_Q14050

  • COL9A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL9A3 Protein Expression
    REFSEQ proteins: NP_001844.3  
    ENSEMBL proteins: 
     ENSP00000341640   ENSP00000394280  
    Reactome Protein details: Q14050
    Human Recombinant Protein Products for COL9A3: 
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    Browse Sino Biological Cell Lysates 
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    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--

    COL9A3 for ontologies           About GeneDecksing



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    (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 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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for COL9A3 
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    (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 COL9A3 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

    5/15 Downloadable PowerPoint Slides of QIAGEN 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


    5/12        Reactome Pathways for COL9A3 (see all 12)
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Collagen formation
    Degradation of collagen


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


    COL9A3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL9A3

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

    5/43 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): 5/6 biological process terms (GO ID links to tree view) (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 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL9A3 (CO9A3)

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
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    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 COL9A3 gene: 
    NM_001853.3  

    Unigene Cluster for COL9A3:

    Collagen, type IX, alpha 3
    Hs.716639  [show with all ESTs]
    Unigene Representative Sequence: NM_001853
    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
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    Additional mRNA sequence: 

    AK075240.1 AY927630.1 BC004412.1 BC007574.1 BC011705.2 L41162.1 X91013.1 

    21 DOTS entries:

    DT.75107208  DT.100775935  DT.100030644  DT.100775943  DT.100775936  DT.120826515  DT.91932319  DT.120826584 
    DT.100775939  DT.120826600  DT.91787580  DT.95125868  DT.95272246  DT.97763535  DT.102826008  DT.102826009 
    DT.120826546  DT.120826562  DT.120826635  DT.91751700  DT.91761107 

    24/246 AceView cDNA sequences (see all 246):

    BU189363 AI144187 CA413116 BU845715 AW025918 AI479621 C02023 BC011705 
    BM710049 BU848705 CD675479 BE734174 BQ006213 BM671205 BQ448331 BU075803 
    AK075240 BC007574 CA392064 CR611329 H88257 CA448491 BF062249 BQ181740 

    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™, 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

    COL9A3 expression in normal human tissues (normalized intensities)      COL9A3 embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Mandibular Condyle
             HyStem+BMP4-induced 4D20.8 cells
             skeleton/cranium/chondrocranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
             HyStem+BMP4-induced 4D20.8 cells
             skeleton/cranium/chondrocranium   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
             Autopod
             limb/hindlimb/leg   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Choroid Plexus
             superior temporal gyrus   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             mouth   

    See COL9A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL9A3

    SOURCE GeneReport for Unigene cluster: Hs.716639
        SABiosciences Custom PCR Arrays for COL9A3
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    In Situ
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    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

    This gene was present in the common ancestor of animals.

    Orthologs for COL9A3 gene from 6/12 species (see all 12)    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 83.51(n)1
    91.43(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 69.45(n)
    76.3(a)
      396242  NM_205305.1  NP_990636.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL9A36
    Uncharacterized protein
    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 62.26(n)
    67.37(a)
      567110  XM_690399.4  XP_695491.2 
    worm
    (Caenorhabditis elegans)
    Secernentea mec-56
    Protein MEC-5
    30(a)
    1 → many
    X(15944009-15948951)


    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
    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) 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

    10/1016 SNPs in COL9A3 are shown (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
    VAR_0264704
    ----see VAR_0264702 R Q mis40--------
    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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 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
    SABiosciences Cancer Mutation 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
    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)

  • 18 diseases for COL9A3:    About MalaCards
    back pain    col9a3-related multiple epiphyseal dysplasia    degenerative disc disease    intervertebral disc disease
    scheuermann's disease    osteochondritis dissecans    multiple epiphyseal dysplasia, dominant    sponastrime dysplasia
    pseudoachondroplasia    lumbar disc disease    multiple epiphyseal dysplasia    spinal stenosis
    diastrophic dysplasia    skeletal dysplasias    short stature    myopathy
    osteoarthritis    obesity

    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

    PubMed articles for COL9A3 gene, integrated from 9 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. (1995)
    2. COL9A3: A third locus for multiple epiphyseal dysplasia. (PubMed id 10090888)1, 2, 9 Paassilta P.... Ala-Kokko L. (1999)
    3. Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. (PubMed id 16133074)1, 4, 9 Solovieva S....Riihimaki H. (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. (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. (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. (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....Riihimaki H. (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. (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. (1999)
    10. Occupational and genetic risk factors associated with intervertebral disc disease. (PubMed id 17471097)1, 4, 9 Virtanen I.M....Ala-Kokko L. (2007)

    (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: 1299 HGNC: 2219 AceView: COL9A3 Ensembl:ENSG00000092758 euGenes: HUgn1299
    ECgene: COL9A3 Kegg: 1299 H-InvDB: COL9A3

    (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 COL9A3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL9A3

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



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