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MATN3 Gene

protein-coding   GIFtS: 64
GCID: GC02M020191

Matrilin 3

  See MATN3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Matrilin 31 2     DIPOA2
EDM52 5     OADIP2
HOA2 5     matrilin-32
OS22 5     

External Ids:    HGNC: 69091   Entrez Gene: 41482   Ensembl: ENSG000001320317   OMIM: 6021095   UniProtKB: O152323   

Export aliases for MATN3 gene to outside databases

Previous GC identifers: GC02M020083 GC02M020259 GC02M020176 GC02M020113 GC02M019949


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MATN3 Gene:
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is
thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues.
This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix
and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in
multiple epiphyseal dysplasia. (provided by RefSeq, Jul 2008)

GeneCards Summary for MATN3 Gene:
MATN3 (matrilin 3) is a protein-coding gene. Diseases associated with MATN3 include multiple epiphyseal dysplasia, and multiple epiphyseal dysplasia 5. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is VWA1.

UniProtKB/Swiss-Prot: MATN3_HUMAN, O15232
Function: Major component of the extracellular matrix of cartilage and may play a role in the formation of
extracellular filamentous networks

Gene Wiki entry for MATN3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the MATN3 gene promoter:
         NF-1   AML1a   YY1   AREB6   FAC1   POU2F1   POU2F1a   c-Myb   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMATN3 promoter sequence
   Search Chromatin IP Primers for MATN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MATN3


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

Entrez Gene cytogenetic band: 2p24-p23   Ensembl cytogenetic band:  2p24.1   HGNC cytogenetic band: 2p24-p23

MATN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MATN3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M020191:  view genomic region     (about GC identifiers)

Start:
20,191,813 bp from pter      End:
20,212,455 bp from pter
Size:
20,643 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MATN3_HUMAN, O15232 (See protein sequence)
Recommended Name: Matrilin-3 precursor  
Size: 486 amino acids; 52817 Da
Subunit: Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1 (By
similarity). Interacts with COMP
Secondary accessions: Q4ZG02

Explore the universe of human proteins at neXtProt for MATN3: NX_O15232

Explore proteomics data for MATN3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser53, Thr65
  • Modification sites at PhosphoSitePlus

  • See MATN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002372.1  
    ENSEMBL proteins: 
     ENSP00000383894   ENSP00000398753  
    Reactome Protein details: O15232

    MATN3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR019466 Matrilin_coiled-coil_trimer
     IPR009030 Growth_fac_rcpt_N_dom
     IPR013032 EGF-like_CS
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry O15232

    ProtoNet protein and cluster: O15232

    2 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: MATN3_HUMAN, O15232
    Similarity: Contains 4 EGF-like domains
    Similarity: Contains 1 VWFA domain


    Find genes that share domains with MATN3           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MATN3_HUMAN, O15232
    Function: Major component of the extracellular matrix of cartilage and may play a role in the formation of
    extracellular filamentous networks

         Genatlas biochemistry entry for MATN3:
    matrilin 3,involved in the differentiation state of chondrocytes

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS9350998
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI15075323
         
    Find genes that share ontologies with MATN3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MATN3:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Matn3):
     growth/size/body  immune system  limbs/digits/tail  skeleton 

    Find genes that share phenotypes with MATN3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MATN3: Matn3tm1Asz Matn3tm1Brd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MATN3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MATN3

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MATN3

    miRNA
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    miRTarBase miRNAs that target MATN3:
    hsa-mir-148b-3p (MIRT019479), hsa-mir-26b-5p (MIRT030037)

    Block miRNA regulation of human, mouse, rat MATN3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MATN3 (see all 14):
    hsa-miR-374b* hsa-miR-3685 hsa-miR-522 hsa-miR-513a-5p hsa-miR-27a hsa-miR-561 hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidMATN3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MATN3

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    GenScript: all cDNA clones in your preferred vector: MATN3 (NM_002381)
    Sino Biological Human cDNA Clone for MATN3
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN3

    Cell Line
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    ESI BIO PureStem Progenitor for MATN3: 
    PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MATN3_HUMAN, O15232: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum2
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--

    Find genes that share ontologies with MATN3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MATN3 About    
    See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    2ECM proteoglycans
    ECM proteoglycans


    Find genes that share SuperPaths with MATN3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for MATN3
        ECM proteoglycans


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MATN3
    Interactions:

        Search GeneGlobe Interaction Network for MATN3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for MATN3 (O152323 ENSP000003838944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MATN4O954603, ENSP000003431644I2D: score=2 STRING: ENSP00000343164
    MATN2O003393, ENSP000002548984I2D: score=1 STRING: ENSP00000254898
    MATN1P219413, ENSP000003628704I2D: score=2 STRING: ENSP00000362870
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9350998
    GO:0030198extracellular matrix organization TAS--

    Find genes that share ontologies with MATN3           About GenesLikeMe



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

    Browse Tocris compounds for MATN3

    1 Novoseek inferred chemical compound relationship for MATN3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 1 15075323 (1)



    Find genes that share compounds with MATN3           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MATN3 gene: 
    NM_002381.4  

    Unigene Cluster for MATN3:

    Matrilin 3
    Hs.656199  [show with all ESTs]
    Unigene Representative Sequence: NM_002381
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000407540(uc002rdl.3 uc010exu.1) ENST00000478482 ENST00000421259

    miRNA
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    Block miRNA regulation of human, mouse, rat MATN3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MATN3 (see all 14):
    hsa-miR-374b* hsa-miR-3685 hsa-miR-522 hsa-miR-513a-5p hsa-miR-27a hsa-miR-561 hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidMATN3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MATN3
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MATN3
      QuantiTect SYBR Green Assays in human, mouse, rat MATN3
      QuantiFast Probe-based Assays in human, mouse, rat MATN3

    Additional mRNA sequence: 

    AJ001047.1 AJ224741.1 AK290856.1 BC139907.1 EU541440.1 Y13341.1 

    2 DOTS entries:

    DT.207223  DT.99955908 

    Selected AceView cDNA sequences (see all 48):

    CA414288 CA414665 BQ573700 CA418722 AJ001047 BF591891 BQ573787 AI813908 
    CA415125 CA414714 CA447528 CA413752 Y13341 CA447832 CA447912 CA412684 
    CA412712 BX349981 NM_002381 CA414444 AJ224741 BQ004150 AL528504 AA460127 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MATN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCTTCCAA
    MATN3 Expression
    About this image


    MATN3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 24 entries
             Chondrocytes Vertebrae
             Zeugopod Growth Plate
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 22 entries
             Chondrocytes Stylopod Epiphyseal End
             Meckel's Cartilage
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Autopod
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+BMP4-induced SM30 cells
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells
    MATN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MATN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656199

    UniProtKB/Swiss-Prot: MATN3_HUMAN, O15232
    Tissue specificity: Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders

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

    Orthologs for MATN3 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Matn31 , 5 matrilin 31, 5 83.52(n)1
    83.96(a)1
      12 (3.96 cM)5
    171821  NM_010770.41  NP_034900.41 
     89479295 
    chicken
    (Gallus gallus)
    Aves MATN31 matrilin 3 65.52(n)
    63.73(a)
      395954  NM_205072.1  NP_990403.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia matn31 matrilin 3 65.31(n)
    63.64(a)
      101731756  XM_004918192.1  XP_004918249.1 
    zebrafish
    (Danio rerio)
    Actinopterygii matn3a6
    matn3b6
    matrilin 3b
    50(a)
    39(a)
    1 ↔ many
    1 ↔ many
    20(43791822-43807307) ENSDARG00000069245
    13(32851046-32859487) ENSDARG00000069265
    worm
    (Caenorhabditis elegans)
    Secernentea mup-46
    Protein MUP-4 (mup-4) mRNA, complete cds
    7(a)
    1 → many
    III(7479681-7489075) WBGene00003497


    ENSEMBL Gene Tree for MATN3 (if available)
    TreeFam Gene Tree for MATN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MATN3 gene
    VWA12  MATN42  COL14A12  MATN22  VIT2  COL12A12  COCH2  COL20A12  
    VWA22  MATN12  
    4 SIMAP similar genes for MATN3 using alignment to 2 protein entries:     MATN3_HUMAN (see all proteins):
    MATN1    MATN4    MATN2    COL21A1

    Find genes that share paralogs with MATN3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MATN3 (see all 445)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1821640521,2,,4
    CMultiple epiphyseal dysplasia 5 (EDM5)4 --20146495(+) CTCCAC/TGTAGA 2 M V mis10--------
    rs289396771,2,,4
    CMultiple epiphyseal dysplasia 5 (EDM5)4 pathogenic120146572(-) CTATGA/CTGTGG 2 D A mis10--------
    VAR_0668334
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0668332 K N mis40--------
    VAR_0548074
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0548072 R H mis40--------
    VAR_0136924
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0136922 V D mis40--------
    VAR_0548084
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0548082 T K mis40--------
    VAR_0198834
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0198832 A P mis40--------
    VAR_0208444
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0208442 F S mis40--------
    VAR_0136914
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0136912 R W mis40--------
    VAR_0198844
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0198842 E K mis40--------

    HapMap Linkage Disequilibrium report for MATN3 (20191813 - 20212455 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MATN3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv29979CNV Loss17803354

    Human Gene Mutation Database (HGMD): MATN3
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MATN3
    DNA2.0 Custom Variant and Variant Library Synthesis for MATN3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602109   
    OMIM disorders: 607078  140600  608728  
    UniProtKB/Swiss-Prot: MATN3_HUMAN, O15232
  • Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]: 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. Multiple epiphyseal dysplasia type 5 is relatively mild and
    clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and
    early-onset osteoarthritis. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728]: A bone disease characterized by
    disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal
    abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes,
    hypoplastic iliac bones and flat, ovoid vertebral bodies. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Osteoarthritis 2 (OS2) [MIM:140600]: A degenerative disease of the joints characterized by degradation of
    the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include
    pain and joint stiffness often leading to significant disability and joint replacement. In the hand,
    osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and
    proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites
    affected. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 9 diseases for MATN3:    
    About MalaCards
    multiple epiphyseal dysplasia    multiple epiphyseal dysplasia 5    multiple epiphyseal dysplasia, dominant    spondyloepimetaphyseal dysplasia
    pseudoachondroplasia    skeletal dysplasias    ulnar-mammary syndrome    osteochondritis dissecans
    metaphyseal dysplasia

    4 diseases from the University of Copenhagen DISEASES database for MATN3:
    Multiple epiphyseal dysplasia     Pseudoachondroplasia     Osteoarthritis     Diastrophic dysplasia

    Find genes that share disorders with MATN3           About GenesLikeMe

    6 Novoseek inferred disease relationships for MATN3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple epiphyseal dysplasia 97.1 11 15459972 (1), 11479597 (1), 12884427 (1), 18518980 (1) (see all 9)
    psach 90.5 7 15075323 (1), 18193163 (1), 11968079 (1), 17200202 (1) (see all 5)
    hand osteoarthritis 81.4 4 16199550 (1), 16641049 (1), 12736871 (1)
    osteoarthritis 67.1 13 20077500 (3), 14749384 (1), 17881354 (1), 17242023 (1) (see all 8)
    short stature 54.8 2 14749384 (1)
    dysplasia 36.4 4 14749384 (1), 15121775 (1)

    GeneTests: MATN3
    GeneReviews: MATN3
    Genetic Association Database (GAD): MATN3
    Human Genome Epidemiology (HuGE) Navigator: MATN3 (4 documents)

    Export disorders for MATN3 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

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    PubMed articles for MATN3 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with MATN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. (PubMed id 11479597)1, 2, 4, 9 Chapman K.L....Briggs M.D. (Nat. Genet. 2001)
    2. Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor. (PubMed id 9287130)1, 2, 3, 9 Wagener R.... Paulsson M. (FEBS Lett. 1997)
    3. Matrilin-3 from chicken cartilage. (PubMed id 9350998)1, 2, 3 Belluoccio D. and Trueb B. (FEBS Lett. 1997)
    4. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. (PubMed id 16287128)1, 2, 9 Cotterill S.L.... Briggs M.D. (Hum. Mutat. 2005)
    5. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. (PubMed id 15459972)1, 2, 9 Mabuchi A.... Ikegawa S. (Hum. Mutat. 2004)
    6. Characterization of human matrilin-3 (MATN3). (PubMed id 9799608)1, 2, 9 Belluoccio D.... Trueb B. (Genomics 1998)
    7. Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. (PubMed id 12736871)1, 2, 9 Stefansson S.E....Stefansson K. (Am. J. Hum. Genet. 2003)
    8. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. (PubMed id 15121775)1, 2, 9 Borochowitz Z.U....Cormier-Daire V. (J. Med. Genet. 2004)
    9. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. (PubMed id 15523498)1, 4, 9 Jakkula E....Ala-Kokko L. (Eur. J. Hum. Genet. 2005)
    10. Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. (PubMed id 14729835)1, 2, 9 Jackson G.C.... Briggs M.D. (J. Med. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 4148 HGNC: 6909 AceView: MATN3 Ensembl:ENSG00000132031 euGenes: HUgn4148
    ECgene: MATN3 H-InvDB: MATN3

    (According to HUGE)
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      --

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

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    NameDescription
    PharmGKB entry for MATN3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MATN3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MATN3 gene:
    Search GeneIP for patents involving MATN3

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



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