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

MATN3 Gene

protein-coding   GIFtS: 57
GCID: GC02M020191

matrilin 3
 Explore 24 diseases affiliated with
MATN3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MATN3    

Aliases
for MATN3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Matrilin 31 2     DIPOA2
EDM51 2 5     OADIP2
HOA1 2 5     Matrilin-31
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


Summaries
for MATN3 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_015926.15  
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 plasmid: MATN3 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

Proteins
for MATN3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15232

    • MATN3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002372.1  
    ENSEMBL proteins: 
     ENSP00000383894   ENSP00000398753  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: MATN3
    OriGene Custom Protein Services for MATN3 
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    Novus Biologicals MATN3 Proteins
    Novus Biologicals MATN3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MATN3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--


    MATN3 for ontologies           About GeneDecksing



    MATN3 Antibody Products: 
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    ThermoFisher Antibodies for MATN3

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    Uscn ELISAs and CLIAs for MATN3

    Protein Domains /
    Families
    for MATN3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MATN3 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for MATN3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    Browse MicroRNA Expression Plasmids
    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 plasmid: MATN3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MATN3 (see all 7)
    OriGene shRNA RFP: MATN3
    OriGene siRNA: MATN3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MATN3

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MATN3 (see all 3)
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    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 

    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

    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 IEA--
    GO:0005515protein binding IPI15075323


    MATN3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for MATN3: Matn3tm1Asz Matn3tm1Brd
         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


    Pathways & Interactions
    for MATN3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9350998


    MATN3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MATN3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for MATN3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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:             		 OriGene 3'-UTR Clone: MATN3
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: MATN3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MATN3 (see all 7)
    OriGene shRNA RFP: MATN3
    OriGene siRNA: MATN3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN3
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MATN3
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    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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    AJ001047 CA447832 CA412712 CA413752 CA412684 Y13341 BF591891 CA418722 
    CA414665 CA415125 CA414714 CA414288 AI813908 CA447912 CA447528 BQ573700 
    BQ573787 CA414444 AJ224741 AA460127 BX106861 BQ717600 BQ004819 AL528504 

    GeneLoc Exon Structure


    Expression
    for MATN3 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTCTTCCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MATN3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/30 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 30) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneCervical VertebraeChondrocytesBone, Cartilage
    BoneLumbar VertebraeChondrocytesBone, Cartilage
    BoneSacral VertebraeChondrocytesBone, Cartilage
    BoneStylopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneThoracic RibChondrocytesBone, Cartilage
    BoneThoracic VertebraeChondrocytesBone, Cartilage
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneSacral VertebraeOsteochondro Mesenchymal CellsBone, Cartilage
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/15 LifeMap Cells (see all 15) 
    NameCategory
    Articular chondrocyte-like cells (HyStem chondrogenic ...)Cartilage
    Definitive endoderm-like cells (A scalable, suspensi...)
    HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)Bone
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced E15 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    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
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN3

    Orthologs
    for MATN3 gene

    (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 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    for MATN3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MATN3 gene
    VWA12  MATN42  COL14A12  COL9A12  MATN22  COL12A12  VIT2  COL9A32  
    COCH2  COL9A22  COL20A12  VWA22  COL21A12  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



    Genomic Variants
    for MATN3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/330 NCBI SNPs in MATN3 are shown (see all 330)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048936391,2
    		Cpathogenic20202928(-) AAACGA/TGTTCA 2 S C mis10--------
    rs289396771,2
    		Cpathogenic20205639(-) CTATGC/ATGTGG 2 /D /A mis11Minor allele frequency- A:0.00NA 2
    rs1048936451,2
    		Cpathogenic20205714(-) CATTGA/TTACAG 2 D V mis10--------
    rs1048936411,2
    		Cpathogenic20205913(-) ACTATC/GCTAGC 2 P A mis10--------
    rs1048936371,2
    		Cpathogenic20205934(-) ACACGC/TGGGTG 2 R W mis10--------
    rs1048936401,2
    		Cpathogenic20212184(-) TGGCCA/GCGCCC 2 H R mis10--------
    rs772458121,2
    		C,F,other20202930(-) GAAAAC/TGTGTT 2 T M mis11Minor allele frequency- T:0.02EU 593
    rs621094221,2
    		C,F,--19948715(+) TGTGGT/CATATT 2 -- us2k14Minor allele frequency- C:0.13NA EA 244
    rs1921377661,2
    		--20191416(+) TATACC/TACCAT 3 -- us2k1 ds50010--------
    rs1835702961,2
    		--20191563(+) AGTTTA/TTGTTC 3 -- us2k1 ds50010--------

    HapMap Linkage Disequilibrium report for MATN3 (20191813 - 20212455 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MATN3: --
    Human Gene Mutation Database (HGMD): MATN3

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MATN3
    DNA2.0 Custom Variant and Variant Library Synthesis for MATN3

    Disorders / Diseases
    for MATN3 gene

    (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.)
    About This Section
    MATN3 for disorders           About GeneDecksing

    OMIM gene information: 602109   
    OMIM disorders: 607078  140600  608728  
    UniProtKB/Swiss-Prot: MATN3_HUMAN, O15232
  • Defects in MATN3 are the cause of multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]. EDM is a
    • generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and
    short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and
    the milder Ribbing types. EDM5 is relatively mild and clinically variable. It is primarily characterized by delayed
    and irregular ossification of the epiphyses and early-onset osteoarthritis
  • Defects in MATN3 are the cause of 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
  • Genetic variations in MATN3 are associated with susceptibility to osteoarthritis type 2 (OS2) [MIM:140600];
    • also called osteoarthritis of distal interphalangeal joints (OADIP) or hand osteoarthritis (HOA). Osteoarthritis is 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

    20/24 diseases for MATN3 (see all 24):    About MalaCards
    multiple epiphyseal dysplasia    epiphyseal dysplasia    multiple epiphyseal dysplasia, dominant    schmid metaphyseal chondrodysplasia
    osteoarthritis of distal interphalangeal joints    secondary hypertrophic osteoarthropathy    osteochondritis dissecans    primary hypertrophic osteoarthropathy
    short stature    metaphyseal chondrodysplasia    sponastrime dysplasia    metaphyseal dysplasia
    diastrophic dysplasia    osteoarthritis susceptibility 2    semd    chondrodysplasia
    osteoarthritis    pseudoachondroplasia    bronchogenic carcinoma    astigmatism

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

    6 Novoseek 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
    Multiple Epiphyseal Dysplasia, Dominant

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

    Export disorders for MATN3 gene to outside databases

    Publications
    for MATN3 gene

    (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 60):
    (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)

    External Searches for MATN3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing MATN3 gene

    (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

    Other Databases showing MATN3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MATN3 gene

    (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

    Intellectual Property
    for MATN3 gene

    (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:
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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