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

MATN4 Gene

protein-coding   GIFtS: 57
GCID: GC20M043922

Matrilin 4

  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 41 2
matrilin-42

External Ids:    HGNC: 69101   Entrez Gene: 87852   Ensembl: ENSG000001241597   OMIM: 6038975   UniProtKB: O954603   

Export aliases for MATN4 gene to outside databases

Previous GC identifers: GC20M043650 GC20M044560 GC20M044607 GC20M043355 GC20M040663


(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 MATN4 Gene:
This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this
family are thought to be involved in the formation of filamentous networks in the extracellular matrices of
various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal
matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp
complex. Alternative splicing results in multiple transcript variants. (provided by RefSeq, May 2013)

GeneCards Summary for MATN4 Gene: 
MATN4 (matrilin 4) is a protein-coding gene. Diseases associated with MATN4 include pseudoachondroplasia, and chondrodysplasia, and among its related super-pathways are Collagen formation and ECM-receptor interaction. GO annotations related to this gene include protein binding and calcium ion binding. An important paralog of this gene is VWA1.

UniProtKB/Swiss-Prot: MATN4_HUMAN, O95460
Function: Major component of the extracellular matrix of cartilage




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MATN4 gene promoter:
         HTF   Pax-2   Olf-1   Pax-2a   LCR-F1   AREB6   GATA-6   Ik-2   c-Myc   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMATN4 promoter sequence
   Search SABiosciences Chromatin IP Primers for MATN4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MATN4


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

Entrez Gene cytogenetic band: 20q13.1-q13.2   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.1-q13.2

MATN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MATN4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M043922:  view genomic region     (about GC identifiers)

Start:
43,922,085 bp from pter      End:
43,937,169 bp from pter
Size:
15,085 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: MATN4_HUMAN, O95460 (See protein sequence)
Recommended Name: Matrilin-4 precursor  
Size: 622 amino acids; 68487 Da
Subunit: Interacts with COMP
Subcellular location: Secreted
Sequence caution: Sequence=BAC11081.1; Type=Erroneous initiation;
Secondary accessions: A6NH94 A6NKN5 Q5QPU2 Q5QPU3 Q5QPU4 Q8N2M5 Q8N2M7 Q9H1F8 Q9H1F9
Alternative splicing: 4 isoforms:  O95460-1   O95460-2   O95460-3   O95460-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MATN4: NX_O95460

Explore proteomics data for MATN4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95460

  • MATN4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MATN4 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_003824.2  NP_085080.1  NP_085095.1  

    ENSEMBL proteins: 
     ENSP00000361842   ENSP00000361840   ENSP00000361839   ENSP00000343164   ENSP00000353819  
     ENSP00000243983   ENSP00000440328   ENSP00000361837  
    Reactome Protein details: O95460
    Human Recombinant Protein Products for MATN4: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MATN4
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for MATN4
    GenScript Custom Purified and Recombinant Proteins Services for MATN4
    Novus Biologicals MATN4 Protein
    Novus Biologicals MATN4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MATN4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--

    MATN4 for ontologies           About GeneDecksing



    MATN4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for MATN4 (Matrilin-4)
    OriGene Antibodies for MATN4
    OriGene Custom Antibody Services for MATN4
    GenScript Custom Superior Antibodies Services for MATN4
    Novus Biologicals MATN4 Antibodies
    Abcam antibodies for MATN4
    Cloud-Clone Corp. Antibodies for MATN4 
    ThermoFisher Antibodies for MATN4
    LSBio Antibodies in human, mouse, rat for MATN4 

    Assay Products for MATN4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MATN4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MATN4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MATN4 
    Cloud-Clone Corp. CLIAs for MATN4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR019466 Matrilin_coiled-coil_trimer
     IPR001881 EGF-like_Ca-bd
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry O95460

    ProtoNet protein and cluster: O95460

    1 Blocks protein domain: IPB000152 Aspartic acid and asparagine hydroxylation site

    UniProtKB/Swiss-Prot: MATN4_HUMAN, O95460
    Similarity: Contains 4 EGF-like domains
    Similarity: Contains 2 VWFA domains


    MATN4 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: MATN4_HUMAN, O95460
    Function: Major component of the extracellular matrix of cartilage

         Genatlas biochemistry entry for MATN4:
    matrilin 4,cartilage matrix protein

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI15075323
         
    MATN4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MATN4:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MATN4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MATN4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MATN4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MATN4 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATN4
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate MATN4:
    hsa-miR-3658 hsa-miR-3065-5p hsa-miR-4258
    SwitchGear 3'UTR luciferase reporter plasmidMATN4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MATN4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MATN4
    Sirion Biotech Customized adenovirus for overexpression of MATN4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MATN4 (see all 12)
    OriGene ORF clones in mouse, rat for MATN4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MATN4 (NM_030590)
    Sino Biological Human cDNA Clone for MATN4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN4
    Sirion Biotech Customized lentivirus for stable overexpression of MATN4 
                         Customized lentivirus expression plasmids for stable overexpression of MATN4 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MATN4
    LifeMap BioReagents: cell lines associated with MATN4: Chondrogenic Package E15,
    Chondrogenic Package SM30
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN4


    (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 MATN4 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
    3Articular Cartilage Extracellular Matrix
    Articular Cartilage Extracellular Matrix

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for MATN4
        Articular Cartilage Extracellular Matrix



    2        Reactome Pathways for MATN4
        ECM proteoglycans
    Extracellular matrix organization



    MATN4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MATN4

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

    5 Interacting proteins for MATN4 (O954603 ENSP000003431644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MATN2O003393, ENSP000002548984I2D: score=2 STRING: ENSP00000254898
    HAX1O001653, ENSP000003290024I2D: score=1 STRING: ENSP00000329002
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    MATN1P219413, ENSP000003628704I2D: score=2 STRING: ENSP00000362870
    MATN3O152323, ENSP000003838944I2D: score=2 STRING: ENSP00000383894
    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:0030198extracellular matrix organization TAS--
    GO:0048678response to axon injury IEA--

    MATN4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MATN4

    Search CenterWatch for drugs/clinical trials and news about MATN4

    (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 MATN4 gene (3 alternative transcripts): 
    NM_003833.4  NM_030590.3  NM_030592.3  

    Unigene Cluster for MATN4:

    Matrilin 4
    Hs.278489  [show with all ESTs]
    Unigene Representative Sequence: BC151219
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372756 ENST00000372754 ENST00000372753 ENST00000342716(uc010zwr.1 uc002xnn.2)
    ENST00000360607(uc002xno.2) ENST00000353917(uc002xnp.2) ENST00000537548(uc002xnr.1)
    ENST00000372751
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATN4
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate MATN4:
    hsa-miR-3658 hsa-miR-3065-5p hsa-miR-4258
    SwitchGear 3'UTR luciferase reporter plasmidMATN4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MATN4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN4
    Clone
    Products:
         
    OriGene clones in human, mouse for MATN4 (see all 12)
    OriGene ORF clones in mouse, rat for MATN4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MATN4 (NM_030590)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN4
    Sirion Biotech Customized lentivirus for stable overexpression of MATN4 
                         Customized lentivirus expression plasmids for stable overexpression of MATN4 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MATN4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MATN4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN4

    Additional mRNA sequence: 

    AJ007581.1 AK027323.1 AK074495.1 AK074593.1 AK074597.1 BC131763.1 BC141811.1 BC143625.1 
    BC151219.1 

    4 DOTS entries:

    DT.100019914  DT.200264  DT.100019913  DT.100019912 

    18 AceView cDNA sequences:

    NM_003833 NM_030592 NM_030590 AK027323 AJ007581 CA418769 AU279520 AK074495 
    AK074595 AK074597 AW134923 AI638341 BX283574 BG477756 AK074593 AI038302 
    AA992948 H54037 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MATN4    About this scheme

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


    ECgene alternative splicing isoforms for MATN4

    (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

    MATN4 expression in normal human tissues (normalized intensities)      MATN4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MATN4 Expression
    About this image


    MATN4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 9 entries
             Zeugopod Epiphyseal End
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 9 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             fetal cartilage   
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells

    See MATN4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MATN4

    SOURCE GeneReport for Unigene cluster: Hs.278489

    UniProtKB/Swiss-Prot: MATN4_HUMAN, O95460
    Tissue specificity: Embryonic kidney, lung and placenta

        SABiosciences Custom PCR Arrays for MATN4
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MATN4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MATN4
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN4
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN4

    (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 MATN4 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Matn41 , 5 matrilin 41, 5 86.57(n)1
    90.36(a)1
      2 (85.16 cM)5
    171831  NM_001252563.11  NP_001239492.11 
     1643893935 
    chicken
    (Gallus gallus)
    Aves MATN41 matrilin 4 72.32(n)
    70.63(a)
      428140  XM_425698.3  XP_425698.3 
    lizard
    (Anolis carolinensis)
    Reptilia MATN46
    matrilin 4
    64(a)
    1 ↔ 1
    4(143063653-143082056)
    zebrafish
    (Danio rerio)
    Actinopterygii matn46
    matrilin 4
    39(a)
    1 ↔ 1
    6(52742715-52798860)


    ENSEMBL Gene Tree for MATN4 (if available)
    TreeFam Gene Tree for MATN4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MATN4 gene
    VWA12  COL14A12  MATN32  MATN22  VIT2  COL12A12  COCH2  COL20A12  
    VWA22  MATN12  
    6 SIMAP similar genes for MATN4 using alignment to 4 protein entries:     MATN4_HUMAN (see all proteins):
    MATN3    COL21A1    PROS1    MATN1    HMCN1    MATN2

    MATN4 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

    10/391 SNPs in MATN4 are shown (see all 391)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0557584
    ----see VAR_0557582 L F mis40--------
    rs731147501,2
    --43921659(+) CAAAGC/TTCATC 3 -- ds50010--------
    rs27433711,2
    C,F,A,H--43921742(+) CCCCTT/CACCAG 3 -- ds500111Minor allele frequency- C:0.32NA WA CSA EA 372
    rs1917389061,2
    --43921803(+) GCGTGA/GCCGGG 3 -- ds50010--------
    rs27433741,2
    H--43921863(+) ACCCCA/GAGGAT 3 -- ds50012Minor allele frequency- G:0.00NS 208
    rs1169524791,2
    C,F--43922047(+) GGCTTC/TCCCTC 3 -- ds50012Minor allele frequency- T:0.05NA EA 240
    rs791182941,2
    C--43922241(+) TGGTCC/TGGGCG 3 -- ut312Minor allele frequency- T:0.05CSA WA 120
    rs22331081,2
    C,F--43922384(-) GACCCG/AGGCTG 3 -- ut31 ese31Minor allele frequency- A:0.05WA 118
    rs22331071,2
    C,F,A,H--43922403(-) GAGGGC/G/TCACGG 6 -- ut31 ese38NA WA CSA EA EU 746
    rs1457837391,2
    F--43922419(+) TGGTTG/AGCCAG 6 /A syn11Minor allele frequency- A:0.00NA 4052

    HapMap Linkage Disequilibrium report for MATN4 (43922085 - 43937169 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MATN4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv912891CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MATN4
    DNA2.0 Custom Variant and Variant Library Synthesis for MATN4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603897    OMIM disorders: --

    2 diseases for MATN4:    About MalaCards
    pseudoachondroplasia    chondrodysplasia


    MATN4 for disorders           About GeneDecksing


    Export disorders for MATN4 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 MATN4 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with MATN4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organisation, alternative splicing and primary structure of human matrilin-4. (PubMed id 9827539)1, 2, 3, 9 Wagener R.... Paulsson M. (1998)
    2. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (PubMed id 15075323)1, 2, 9 Mann H.H....Wagener R. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    5. Isolation and regional mapping of cDNAs expressed during early human development. (PubMed id 9027493)1, 3 Jay P....Berta P. (1997)
    6. Proteolytic processing causes extensive heterogeneity of tissue matrilin forms. (PubMed id 19531486)1, 9 Ehlen H.W....Wagener R. (2009)
    7. Comparative gene expression profile analysis between native human odontoblasts and pulp tissue. (PubMed id 18005044)1, 9 Paakkonen V....Tjaderhane L. (2008)
    8. Characterization of the matrilin coiled-coil domains reveals seven novel isoforms. (PubMed id 11896063)1, 9 Frank S....Kammerer R.A. (2002)
    9. Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 ar e strongly expressed in the epithelium of human granular and lattice type I corn eal dystrophies. (PubMed id 22876117)1 Szalai E....Kaarniranta K. (2012)
    10. Expression of matrilin-2 and -4 in human dental pulps during dentin-pulp complex wound healing. (PubMed id 21496664)1 Chen C....Xie N. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 8785 HGNC: 6910 AceView: MATN4 Ensembl:ENSG00000124159 euGenes: HUgn8785
    ECgene: MATN4 H-InvDB: MATN4

    (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 MATN4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MATN4 gene:
    Search GeneIP for patents involving MATN4

    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

      
     Antibodies for MATN4 (Matrilin-4)   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 MATN4   OriGene RNAi products in human, mouse, rat for MATN4  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for MATN4  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MATN4  
     OriGene qSTAR qPCR primer pairs in human, mouse for MATN4   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MATN4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MATN4   OriGene Custom Protein Services for MATN4  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MATN4
     QIAGEN SeqTarget long-range PCR primers for resequencing MATN4
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MATN4
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN4
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN4
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN4
     GenScript Custom Purified and Recombinant Proteins Services for MATN4 GenScript cDNA clones with any tag delivered in your preferred vector for MATN4
     GenScript Custom Assay Services for MATN4 GenScript Custom Superior Antibodies Services for MATN4
     GenScript Custom overexpressing Cell Line Services for MATN4 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 MATN4 promoter
     Search Chromatin IP Primers for MATN4
     RT2 qPCR Primer Assay in human, mouse, rat MATN4
     Search GNC Networks for MATN4
     SABiosciences Custom PCR Arrays for MATN4
     Search Tocris compounds for MATN4
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for MATN4
     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
     MATN4 antibodies
     MATN4 proteins
     MATN4 lysates
     Antibodies for MATN4
     See all of Abcam's Antibodies, Kits and Proteins for MATN4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for MATN4
     Antibodies for MATN4
     ELISAs for MATN4
     CLIAs for MATN4
     Cell Lines associated with MATN4: Chondrogenic Package E15,
    Chondrogenic Package SM30
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN4
     SwitchGear 3'UTR luciferase reporter plasmids for MATN4
     SwitchGear Promoter luciferase reporter plasmids for MATN4
     ThermoFisher Antibodies for MATN4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN4
     inGenious Targeting Laboratory - Custom generated mouse model solutions for MATN4
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MATN4
    Customized:
     lentivirus for stable overexpression of MATN4
     lentivirus expression plasmids for stable overexpression of MATN4
     adenovirus for overexpression of MATN4
     LSBio Antibodies in human, mouse, rat for MATN4
    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      MATN4 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4