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

MATN2 Gene

protein-coding   GIFtS: 56
GCID: GC08P098881

Matrilin 2

  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 21 2
matrilin-22

External Ids:    HGNC: 69081   Entrez Gene: 41472   Ensembl: ENSG000001325617   OMIM: 6021085   UniProtKB: O003393   

Export aliases for MATN2 gene to outside databases

Previous GC identifers: GC08P097909 GC08P098955 GC08P098550 GC08P098837 GC08P098950 GC08P094085


(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 MATN2 Gene:
This gene encodes a member of the 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 five von Willebrand factor A domains. The specific function of this gene
has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for MATN2 Gene: 
MATN2 (matrilin 2) is a protein-coding gene. Diseases associated with MATN2 include pilocytic astrocytoma, and pharyngitis. GO annotations related to this gene include molecular_function and calcium ion binding. An important paralog of this gene is VWA1.

UniProtKB/Swiss-Prot: MATN2_HUMAN, O00339
Function: Involved in matrix assembly (By similarity)

Gene Wiki entry for MATN2 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_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MATN2 gene promoter:
         HOXA9   p53   AML1a   NF-AT   NF-AT4   NF-AT2   POU2F1   POU2F1a   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMATN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MATN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MATN2


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

Entrez Gene cytogenetic band: 8q22   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22.1-q22.2

MATN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MATN2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P098881:  view genomic region     (about GC identifiers)

Start:
98,881,068 bp from pter      End:
99,048,948 bp from pter
Size:
167,881 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MATN2_HUMAN, O00339 (See protein sequence)
Recommended Name: Matrilin-2 precursor  
Size: 956 amino acids; 106837 Da
Subcellular location: Secreted
Sequence caution: Sequence=CAD38787.1; Type=Erroneous initiation;
Secondary accessions: A8K106 E7EW74 E9PD48 E9PGL2 Q6UWA5 Q7Z5X1 Q8NDE6 Q96FT5 Q9NSZ1
Alternative splicing: 4 isoforms:  O00339-1   O00339-2   O00339-3   O00339-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MATN2: NX_O00339

Explore proteomics data for MATN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00339

  • MATN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MATN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002371.3  NP_085072.2  

    ENSEMBL proteins: 
     ENSP00000429977   ENSP00000430221   ENSP00000429010   ENSP00000430487   ENSP00000429622  
     ENSP00000430396   ENSP00000429042   ENSP00000429825   ENSP00000429256   ENSP00000429885  
     ENSP00000430358   ENSP00000429354   ENSP00000254898  

    Human Recombinant Protein Products for MATN2: 
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    R&D Systems Recombinant & Natural Proteins for MATN2 (Matrilin-2)
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    OriGene Purified Protein for MATN2
    OriGene Protein Over-expression Lysate for MATN2
    OriGene MassSpec for MATN2 
    OriGene Custom Protein Services for MATN2
    GenScript Custom Purified and Recombinant Proteins Services for MATN2
    Novus Biologicals MATN2 Proteins
    Novus Biologicals MATN2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MATN2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix NAS11124542
    GO:0005604basement membrane IEA--
    GO:0031012colocalizes with extracellular matrix ISS--

    MATN2 for ontologies           About GeneDecksing



    MATN2 Antibody Products: 
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    (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 O00339

    ProtoNet protein and cluster: O00339

    2 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: MATN2_HUMAN, O00339
    Similarity: Contains 10 EGF-like domains
    Similarity: Contains 2 VWFA domains


    MATN2 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: MATN2_HUMAN, O00339
    Function: Involved in matrix assembly (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
         
    MATN2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MATN2:
     Cells with protrusions  Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Matn2):
     normal 

    MATN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Matn2tm1Asz for MATN2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MATN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MATN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MATN2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MATN2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATN2
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate MATN2 (see all 25):
    hsa-miR-3910 hsa-miR-448 hsa-miR-300 hsa-miR-4260 hsa-miR-3200-3p hsa-miR-124 hsa-miR-298 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidMATN2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MATN2
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MATN2

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): MATN2 (NM_002380)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN2
    Sirion Biotech Customized lentivirus for stable overexpression of MATN2 
                         Customized lentivirus expression plasmids for stable overexpression of MATN2 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MATN2
    Search LifeMap BioReagents cell lines for MATN2
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN2


    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MATN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/18 Interacting proteins for MATN2 (O003391, 3 ENSP000002548984) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN7O152651, 3EBI-949020,EBI-708350 I2D: score=1 
    CACNA1AO005551, 3EBI-949020,EBI-766279 I2D: score=1 
    ATXN1P542533, ENSP000002447694I2D: score=2 STRING: ENSP00000244769
    COL1A1P024523, ENSP000002259644I2D: score=2 STRING: ENSP00000225964
    FBN2P355563, ENSP000002624644I2D: score=2 STRING: ENSP00000262464
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0007411axon guidance IEA--
    GO:0008150biological_process ND--
    GO:0008347glial cell migration IEA--
    GO:0031104dendrite regeneration IEA--

    MATN2 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 MATN2

    Search CenterWatch for drugs/clinical trials and news about MATN2

    (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 MATN2 gene (2 alternative transcripts): 
    NM_002380.3  NM_030583.2  

    Unigene Cluster for MATN2:

    Matrilin 2
    Hs.189445  [show with all ESTs]
    Unigene Representative Sequence: BX648291
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521689 ENST00000524308 ENST00000523490(uc003yib.1) ENST00000522025
    ENST00000520160 ENST00000520016(uc003yie.1 uc010mbi.1) ENST00000518154
    ENST00000521041 ENST00000519585 ENST00000518238 ENST00000522270 ENST00000521952
    ENST00000517321 ENST00000518370 ENST00000519582 ENST00000523561 ENST00000522135
    ENST00000254898(uc010mbh.1 uc003yic.3 uc003yid.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATN2
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate MATN2 (see all 25):
    hsa-miR-3910 hsa-miR-448 hsa-miR-300 hsa-miR-4260 hsa-miR-3200-3p hsa-miR-124 hsa-miR-298 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidMATN2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MATN2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN2
    Clone
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    OriGene clones in human, mouse for MATN2 (see all 14)
    OriGene ORF clones in mouse, rat for MATN2
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    GenScript: all cDNA clones in your preferred vector (see all 2): MATN2 (NM_002380)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN2
    Sirion Biotech Customized lentivirus for stable overexpression of MATN2 
                         Customized lentivirus expression plasmids for stable overexpression of MATN2 
    Primer
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    OriGene qPCR primer pairs and template standards for MATN2
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MATN2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN2

    Additional mRNA sequence: 

    AK027775.1 AK289721.1 AL137638.1 AL833931.1 AY358895.1 BC010444.1 BC016394.1 BX648291.1 
    BX649093.1 

    21 DOTS entries:

    DT.100820581  DT.100026933  DT.121483898  DT.95373425  DT.97775096  DT.100820590  DT.91905475  DT.121483882 
    DT.95280365  DT.75138468  DT.100820588  DT.91853802  DT.100820585  DT.121483974  DT.102832189  DT.436162 
    DT.121484006  DT.95121008  DT.95373419  DT.100715248  DT.121483927 

    24/259 AceView cDNA sequences (see all 259):

    AI675601 AL137638 CR594902 BF059291 F08289 AI339418 BX950949 AY358895 
    AA931243 BQ721299 BQ009016 BP377518 AI640197 BF431979 AA903449 AI434413 
    AI917169 AA065130 CA943559 CA867374 AL833931 CR600647 BM785331 N52700 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MATN2 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16 ^
    SP1:                                                                                                                    -                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                    -     -                                 
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17 ^ 18a · 18b ^ 19 ^ 20a · 20b
    SP1:                                    
    SP2:        -                           
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for MATN2

    (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

    MATN2 expression in normal human tissues (normalized intensities)      MATN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGAGAGAA
    MATN2 Expression
    About this image


    MATN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Chondrocytes Zeugopod Epiphyseal End
             Micromass-induced chondrocytes
             Knee Normal Human Articular chondrocytes (knNHAC)   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 3 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
             mesenchyme   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
             brain/forebrain/telencephalon   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Chondrocytes Zeugopod Epiphyseal End
             Micromass-induced chondrocytes
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Human Bladder Smooth Muscle Cells (HBdSMC)   

    See MATN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MATN2

    SOURCE GeneReport for Unigene cluster: Hs.189445
        SABiosciences Custom PCR Arrays for MATN2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN2

    (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 MATN2 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Matn21 , 5 matrilin 21, 5 86.18(n)1
    87.61(a)1
      15 (13.98 cM)5
    171811  NM_016762.21  NP_058042.21 
     343066815 
    chicken
    (Gallus gallus)
    Aves MATN21 matrilin 2 71.15(n)
    71.46(a)
      426584  XM_424219.3  XP_424219.3 
    lizard
    (Anolis carolinensis)
    Reptilia MATN26
    Uncharacterized protein
    68(a)
    1 ↔ 1
    4(20579900-20650449)
    African clawed frog
    (Xenopus laevis)
    Amphibia matn2-prov2 matrilin 2 75.06(n)    BC045220.1 
    zebrafish
    (Danio rerio)
    Actinopterygii matn41 matrilin 4 57.29(n)
    48.74(a)
      497348  NM_213549.1  NP_998714.1 


    ENSEMBL Gene Tree for MATN2 (if available)
    TreeFam Gene Tree for MATN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MATN2 gene
    VWA12  MATN42  COL14A12  MATN32  VIT2  COL12A12  COCH2  COL20A12  
    VWA22  MATN12  
    16 SIMAP similar genes for MATN2 using alignment to 10 protein entries:     MATN2_HUMAN (see all proteins):
    MATN1    F9    COL21A1    F7    MATN3    PROS1
    FBLN5    LDLR    COCH    ITGA2    SCUBE2    MEGF6
    FBLN2    EFEMP1    MATN4    FBN2

    MATN2 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

    10/3334 SNPs in MATN2 are shown (see all 3334)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1831577501,2
    --98879450(+) CACCCA/GTTTTA 2 -- us2k10--------
    rs1500278931,2
    C--98879763(+) AAGACA/GTAACA 2 -- us2k10--------
    rs1443449871,2
    C--98879864(+) TGGTAG/TTAAGG 2 -- us2k10--------
    rs343829571,2
    C,F--98880043(+) CCGCCC/GAAAGC 2 -- us2k19Minor allele frequency- G:0.31NA CSA WA EA 369
    rs1395390481,2
    --98880050(+) AAGCAC/GCAAAT 2 -- us2k10--------
    rs1451583721,2
    --98880077(+) ATCCAC/GAGGTT 2 -- us2k10--------
    rs1475622441,2
    --98880091(+) AAACTA/GGTTAG 2 -- us2k10--------
    rs351481741,2
    C,F,H--98880097(+) GTTAGT/CGCTGC 2 -- us2k126Minor allele frequency- C:0.30NS EA NA CSA WA 2709
    rs1877545521,2
    --98880393(+) TGGGCC/GACTCC 2 -- us2k10--------
    rs1925850561,2
    --98880539(+) GAACTA/GGGGAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MATN2 (98881068 - 99048948 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MATN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv26559CNV Gain19812545
    nsv891215CNV Gain21882294
    nsv528695CNV Gain19592680
    nsv891214CNV Gain21882294

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    (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: 602108    OMIM disorders: --

    9 diseases for MATN2:    About MalaCards
    pilocytic astrocytoma    pharyngitis    astrocytoma    liver cirrhosis
    macular degeneration    ataxia    hepatocellular carcinoma    thyroiditis
    neuronitis


    MATN2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MATN2
    Human Genome Epidemiology (HuGE) Navigator: MATN2 (5 documents)

    Export disorders for MATN2 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 MATN2 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with MATN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A- like module superfamily. (PubMed id 9083061)1, 2, 3, 9 Deak F.... Kiss I. (1997)
    2. Comparative analysis of the mouse and human genes (Ma tn2 and MATN2) for matrilin-2, a filament-forming protein widely distributed in extracellular matrices. (PubMed id 11852232)1, 3, 9 MA!tAcs L....Kiss I. (2002)
    3. Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes. (PubMed id 11124542)1, 2, 9 Muratoglu S.... Deak F. (2000)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    6. The variant rs1867277 in FOXE1 gene confers thyroid c ancer susceptibility through the recruitment of USF1/USF2 transcription factors . (PubMed id 19730683)1, 4 Landa I....Robledo M. (2009)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    10. Matrilin-2 interacts with itself and with other extracellular matrix proteins. (PubMed id 12180907)1, 9 Piecha D....Paulsson M. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4147 HGNC: 6908 AceView: MATN2 Ensembl:ENSG00000132561 euGenes: HUgn4147
    ECgene: MATN2 H-InvDB: MATN2

    (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 MATN2 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 MATN2 gene:
    Search GeneIP for patents involving MATN2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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