Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

MATN3 Gene

protein-coding   GIFtS: 63
GCID: GC02M020191

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

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 secondary hypertrophic osteoarthropathy, and among its related super-pathways are Collagen formation and ECM-receptor interaction. GO annotations related to this gene include extracellular matrix structural constituent and calcium ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_015926.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MATN3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Secreted
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15232

  • MATN3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MATN3 Protein Expression
    REFSEQ proteins: NP_002372.1  
    ENSEMBL proteins: 
     ENSP00000383894   ENSP00000398753  
    Reactome Protein details: O15232
    Human Recombinant Protein Products for MATN3: 
    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 MATN3
    OriGene Protein Over-expression Lysate for MATN3
    OriGene MassSpec for MATN3 
    OriGene Custom Protein Services for MATN3
    GenScript Custom Purified and Recombinant Proteins Services for MATN3
    Novus Biologicals MATN3 Proteins
    Novus Biologicals MATN3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MATN3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    MATN3 for ontologies           About GeneDecksing



    MATN3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MATN3
    OriGene Custom Antibody Services for MATN3
    GenScript Custom Superior Antibodies Services for MATN3
    Novus Biologicals MATN3 Antibodies
    Abcam antibodies for MATN3
    Cloud-Clone Corp. Antibodies for MATN3 
    ThermoFisher Antibodies for MATN3
    LSBio Antibodies in human, mouse, rat for MATN3 

    Assay Products for MATN3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MATN3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MATN3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MATN3 
    Cloud-Clone Corp. CLIAs for MATN3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR019466 Matrilin_coiled-coil_trimer
     IPR001881 EGF-like_Ca-bd
     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


    MATN3 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS9350998
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI15075323
         
    MATN3 for ontologies           About GeneDecksing


    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  immune system  limbs/digits/tail  skeleton 

    MATN3 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MATN3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MATN3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MATN3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MATN3 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATN3
    8/14 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MATN3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MATN3
    Sirion Biotech Customized adenovirus for overexpression of MATN3

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MATN3 (see all 7)
    OriGene ORF clones in mouse, rat for MATN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MATN3 (NM_002381)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN3
    Sirion Biotech Customized lentivirus for stable overexpression of MATN3 
                         Customized lentivirus expression plasmids for stable overexpression of MATN3 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MATN3
    LifeMap BioReagents: cell line associated with MATN3: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN3


    (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 MATN3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39
    2Non-integrin membrane-ECM interactions
    ECM proteoglycans0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for MATN3
        ECM proteoglycans
    Extracellular matrix organization



    MATN3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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

    MATN3 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

    MATN3 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about MATN3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATN3
    8/14 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MATN3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN3
    Clone
    Products:
         
    OriGene clones in human, mouse for MATN3 (see all 7)
    OriGene ORF clones in mouse, rat for MATN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MATN3 (NM_002381)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN3
    Sirion Biotech Customized lentivirus for stable overexpression of MATN3 
                         Customized lentivirus expression plasmids for stable overexpression of MATN3 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MATN3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MATN3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN3
      QIAGEN 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 

    24/48 AceView cDNA sequences (see all 48):

    CA418722 CA412712 BQ573700 CA413752 CA447832 CA447912 CA414665 CA414288 
    BF591891 AJ001047 CA414714 AI813908 BQ573787 CA412684 CA415125 Y13341 
    CA447528 AL528504 AA460127 BQ004819 CD614705 AU121718 AW190549 BX349981 

    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™, 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

    MATN3 expression in normal human tissues (normalized intensities)      MATN3 embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 30 entries
             Chondrocytes Sacral Vertebrae
             Meckel's Cartilage
             HyStem+BMP4-induced 4D20.8 cells
             sensory organ/nose/nasal septum   
     
     Bone (Muscoskeletal System)    fully expand to see all 28 entries
             Chondrocytes Sacral Vertebrae
             Thoracic Rib
             HyStem+BMP4-induced 4D20.8 cells
             sensory organ/ear/inner ear   
     
     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
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   

    See MATN3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MATN3

    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

        SABiosciences Custom PCR Arrays for MATN3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MATN3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MATN3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN3

    (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 chordates.

    Orthologs for MATN3 gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Matn31 , 5 matrilin 31, 5 83.54(n)1
    84.24(a)1
      12 (3.96 cM)5
    171821  NM_010770.41  NP_034900.41 
     89479295 
    chicken
    (Gallus gallus)
    Aves MATN31 matrilin 3 65.44(n)
    63.73(a)
      395954  NM_205072.1  NP_990403.1 
    zebrafish
    (Danio rerio)
    Actinopterygii matn3b1 matrilin 3b 60.32(n)
    61.93(a)
      497645  NM_001012385.1  NP_001012385.1 


    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)
    About This Section
    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

    MATN3 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

    10/445 SNPs in MATN3 are shown (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
    ----------
    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--------
    VAR_0668314
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0668312 A D mis40--------
    VAR_0548094
    Multiple epiphyseal dysplasia 5 (EDM5)4--see VAR_0548092 Y N 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20 diseases for MATN3:    About MalaCards
    multiple epiphyseal dysplasia    secondary hypertrophic osteoarthropathy    multiple epiphyseal dysplasia 5    multiple epiphyseal dysplasia, dominant
    sponastrime dysplasia    pseudoachondroplasia    osteochondritis dissecans    schmid metaphyseal chondrodysplasia
    periostitis    primary hypertrophic osteoarthropathy    bronchogenic carcinoma    metaphyseal dysplasia
    diastrophic dysplasia    astigmatism    short stature    skeletal dysplasias
    chondrodysplasia    dwarfism    osteoarthritis    myopathy

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

    MATN3 for disorders           About GeneDecksing

    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

    PubMed articles for MATN3 gene, integrated from 9 sources (see all 61):
    (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. (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. (1997)
    3. Matrilin-3 from chicken cartilage. (PubMed id 9350998)1, 2, 3 Belluoccio D. and Trueb B. (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. (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. (2004)
    6. Characterization of human matrilin-3 (MATN3). (PubMed id 9799608)1, 2, 9 Belluoccio D.... Trueb B. (1998)
    7. Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. (PubMed id 12736871)1, 2, 9 Stefansson S.E....Stefansson K. (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. (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. (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. (2004)

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

    (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 MATN3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MATN3

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



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

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MATN3   OriGene RNAi products in human, mouse, rat for MATN3  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for MATN3  
     OriGene MassSpec something-or-other for MATN3   OriGene clones in human, mouse for MATN3  
     OriGene qSTAR qPCR primer pairs in human, mouse for MATN3   OriGene Purified Protein for MATN3  
     OriGene ORF clones in mouse, rat for MATN3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MATN3   OriGene Custom Protein Services for MATN3  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MATN3
     QIAGEN SeqTarget long-range PCR primers for resequencing MATN3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MATN3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN3
     GenScript Custom Purified and Recombinant Proteins Services for MATN3 GenScript cDNA clones with any tag delivered in your preferred vector for MATN3
     GenScript Custom Assay Services for MATN3 GenScript Custom Superior Antibodies Services for MATN3
     GenScript Custom overexpressing Cell Line Services for MATN3 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

     Regulatory tfbs in MATN3 promoter
     Search Chromatin IP Primers for MATN3
     RT2 qPCR Primer Assay in human, mouse, rat MATN3
     Search GNC Networks for MATN3
     SABiosciences Custom PCR Arrays for MATN3
     Search Tocris compounds for MATN3
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     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
     MATN3 antibodies
     MATN3 proteins
     MATN3 lysates
     Antibodies for MATN3
     See all of Abcam's Antibodies, Kits and Proteins for MATN3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for MATN3
     Antibodies for MATN3
     ELISAs for MATN3
     CLIAs for MATN3
     Cell Line associated with MATN3: 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 MATN3
     SwitchGear 3'UTR luciferase reporter plasmids for MATN3
     SwitchGear Promoter luciferase reporter plasmids for MATN3
     ThermoFisher Antibodies for MATN3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN3
     inGenious Targeting Laboratory - Custom generated mouse model solutions for MATN3
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MATN3
    Customized:
     lentivirus for stable overexpression of MATN3
     lentivirus expression plasmids for stable overexpression of MATN3
     adenovirus for overexpression of MATN3
     LSBio Antibodies in human, mouse, rat for MATN3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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      MATN3 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4