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

MATR3 Gene

protein-coding   GIFtS: 64
GCID: GC05P138609

Matrin 3

(Previous names: myopathy, distal 2)
(Previous symbol: MPD2)
Microbiology & Infectious Diseases Congress
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 8.2

Aliases
Matrin 31 2     matrin-32
MPD21 2 5     Vocal Cord And Pharyngeal Weakness With Distal Myopathy2
Myopathy, Distal 21     KIAA07233
VCPDM2     

External Ids:    HGNC: 69121   Entrez Gene: 97822   Ensembl: ENSG000000154797   OMIM: 1640155   UniProtKB: P432433   
ORGUL members:    fRNAdb10:FR274912      
H-InvDB12: HIT000383087    
NONCODE14:n384742 n343019 n410104 n405680 n410105      
RNAdb15:RNZ27743    

Export aliases for MATR3 gene to outside databases

Previous GC identifers: GC05P138504 GC05P139284 GC05P138640 GC05P138705 GC05P138657


(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 MATR3 Gene:
This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species.
Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal
weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream
small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified.
Pseudogenes of this gene are located on chromosomes 1 and X. (provided by RefSeq, Aug 2013)

GeneCards Summary for MATR3 Gene: 
MATR3 (matrin 3) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with MATR3 include pharyngitis, and distal myopathy with vocal cord weakness. GO annotations related to this gene include structural molecule activity and RNA binding. An important paralog of this gene is RBM20.

UniProtKB/Swiss-Prot: MATR3_HUMAN, P43243
Function: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal
fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of
defective RNAs

Gene Wiki entry for MATR3 Gene

fRNAdb sequence ontology for MATR3:
nc_conserved_region - Non-coding region of sequence similarity by descent from a common ancestor.

View fRNAdb secondary structures for MATR3

(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_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MATR3 gene promoter:
         Nkx6-1   POU2F1a   Nkx2-5   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MATR3 promoter sequence
   Search SABiosciences Chromatin IP Primers for MATR3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MATR3


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

Entrez Gene cytogenetic band: 5q31.2   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31.3

MATR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MATR3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P138609:  view genomic region     (about GC identifiers)

Start:
138,609,441 bp from pter      End:
138,667,366 bp from pter
Size:
57,926 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MATR3

(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: MATR3_HUMAN, P43243 (See protein sequence)
Recommended Name: Matrin-3  
Size: 847 amino acids; 94623 Da
Subunit: Part of complex consisting of SFPQ, NONO and MATR3. Interacts with AGO1 and AGO2. Part of a complex
composed at least of ASCL2, C11orf30/EMSY, HCFC1, HSPA8, KIAA1967, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335;
this complex may have a histone H3-specific methyltransferase activity
Subcellular location: Nucleus matrix
Sequence caution: Sequence=AAF17217.1; Type=Frameshift; Positions=Several; Sequence=BAA34443.2; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
Secondary accessions: B7ZAV5 D3DQC3 Q9UHW0 Q9UQ27
Alternative splicing: 2 isoforms:  P43243-1   P43243-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MATR3: NX_P43243

Explore proteomics data for MATR3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P43243

  • MATR3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MATR3 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001181883.1  NP_001181884.1  NP_001181885.1  NP_001269207.1  NP_061322.2  NP_954659.1  

    ENSEMBL proteins: 
     ENSP00000423533   ENSP00000423521   ENSP00000423695   ENSP00000422233   ENSP00000421218  
     ENSP00000422319   ENSP00000378279   ENSP00000421666   ENSP00000424431   ENSP00000427168  
     ENSP00000378284   ENSP00000425150   ENSP00000424646   ENSP00000423290   ENSP00000422700  
     ENSP00000426030   ENSP00000426743   ENSP00000422649   ENSP00000423587   ENSP00000425167  
     ENSP00000422137   ENSP00000427557   ENSP00000426801   ENSP00000422590   ENSP00000421145  
     ENSP00000422054   ENSP00000421906   ENSP00000354346  

    Human Recombinant Protein Products for MATR3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    GenScript Custom Purified and Recombinant Proteins Services for MATR3
    Novus Biologicals MATR3 Protein
    Novus Biologicals MATR3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MATR3 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005637nuclear inner membrane TAS2033075
    GO:0005730NOT nucleolus IDA--
    GO:0016363nuclear matrix IEA--

    MATR3 for ontologies           About GeneDecksing



    MATR3 Antibody Products: 
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    Abcam antibodies for MATR3
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    ThermoFisher Antibodies for MATR3
    LSBio Antibodies in human, mouse, rat for MATR3 

    Assay Products for MATR3: 
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    Cloud-Clone Corp. ELISAs for MATR3 
    Cloud-Clone Corp. CLIAs for MATR3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR003604 Znf_U1
     IPR012677 Nucleotide-bd_a/b_plait
     IPR015880 Znf_C2H2-like
     IPR000690 Znf_C2H2_matrin
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry P43243

    ProtoNet protein and cluster: P43243

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB003604 Zn-finger


    UniProtKB/Swiss-Prot: MATR3_HUMAN, P43243
    Similarity: Contains 1 matrin-type zinc finger
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    MATR3 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: MATR3_HUMAN, P43243
    Function: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal
    fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of
    defective RNAs

         Genatlas biochemistry entry for MATR3:
    matrin 3

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0005198structural molecule activity TAS2033075
    GO:0005515protein binding IPI17932509
         
    MATR3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MATR3:
     Increased cell number in G1, a 

         1 MGI phenotypic allele for Matr3 (no phenotypes)

    MATR3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MATR3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MATR3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MATR3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MATR3 

    miRNA
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    miRTarBase miRNAs that target MATR3:
    hsa-mir-200b (MIRT005035), hsa-mir-155 (MIRT001804)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATR3
    8/101 QIAGEN miScript miRNA Assays for microRNAs that regulate MATR3 (see all 101):
    hsa-miR-411* hsa-miR-548j hsa-miR-579 hsa-miR-30d hsa-miR-4275 hsa-miR-10b* hsa-miR-30a hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidMATR3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 5): MATR3 (NM_199189)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATR3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATR3
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                         Customized lentivirus expression plasmids for stable overexpression of MATR3 

    Cell Line
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    Search LifeMap BioReagents cell lines for MATR3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATR3


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MATR3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/939 Interacting proteins for MATR3 (P432431, 2, 3 ENSP000003543464) via UniProtKB, MINT, STRING, and/or I2D (see all 939)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBP1Q153652, 3, ENSP000003055564MINT-2867539 MINT-2867520 MINT-7947479 I2D: score=3 STRING: ENSP00000305556
    HNRNPKP619782, 3, ENSP000003654394MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000365439
    RUVBL2Q9Y2302, 3, ENSP000002214134MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000221413
    UBA5Q9GZZ92, 3MINT-7945693 MINT-7947479 I2D: score=1 
    AIMP2Q131552, 3MINT-8258973 I2D: score=2 
    About this table

    (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

    MATR3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MATR3

    1 Novoseek inferred chemical compound relationship for MATR3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 31.8 2 9757574 (1), 8670298 (1)

    Search CenterWatch for drugs/clinical trials and news about MATR3

    (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
    1 fRNAdb Secondary structure:


    REFSEQ mRNAs for MATR3 gene (6 alternative transcripts): 
    NM_001194954.1  NM_001194955.1  NM_001194956.1  NM_001282278.1  NM_018834.5  NM_199189.2  

    Unigene Cluster for MATR3:

    Matrin 3
    Hs.268939  [show with all ESTs]
    Unigene Representative Sequence: CR936615
    18/46 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 46):
    ENST00000509990(uc010jfa.3 uc003lds.3) ENST00000506147 ENST00000512107
    ENST00000448190 ENST00000507692 ENST00000506188 ENST00000513259 ENST00000514694
    ENST00000504203 ENST00000502929 ENST00000394800(uc003ldu.3 uc010jfb.3 uc003ldt.3 uc003ldw.3 uc003ldx.3 uc003ldz.3 uc011czb.2)
    ENST00000507197(uc003ldr.3) ENST00000509644 ENST00000508735 ENST00000514110
    ENST00000505522 ENST00000505016 ENST00000502394
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/101 QIAGEN miScript miRNA Assays for microRNAs that regulate MATR3 (see all 101):
    hsa-miR-411* hsa-miR-548j hsa-miR-579 hsa-miR-30d hsa-miR-4275 hsa-miR-10b* hsa-miR-30a hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidMATR3 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATR3
    Clone
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    OriGene clones in human, mouse for MATR3 (see all 15)
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    GenScript: all cDNA clones in your preferred vector (see all 5): MATR3 (NM_199189)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATR3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATR3
    Sirion Biotech Customized lentivirus for stable overexpression of MATR3 
                         Customized lentivirus expression plasmids for stable overexpression of MATR3 
    Primer
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    OriGene qPCR primer pairs and template standards for MATR3
    OriGene qSTAR qPCR primer pairs in human, mouse for MATR3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MATR3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATR3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATR3

    Additional mRNA sequence: 

    AB018266.1 AF117236.1 AJ224167.1 AJ224168.1 AJ224170.1 AK001388.1 AK057645.1 AK299399.1 
    AK309195.1 AK316420.1 AL117541.1 AY007157.1 BC015031.2 BX537365.1 CR749210.1 CR936615.1 
    M63483.1 NR_003141.3 NR_036535.1 NR_036536.1 

    24/72 DOTS entries (see all 72):

    DT.451983  DT.95375628  DT.95377232  DT.95251461  DT.99995934  DT.95375652  DT.75158028  DT.453333 
    DT.100667824  DT.120805857  DT.100886467  DT.100886474  DT.95192598  DT.100654219  DT.120805801  DT.95375624 
    DT.120805808  DT.100886478  DT.120805718  DT.120805947  DT.437464  DT.100678429  DT.100813688  DT.95375657 

    24/950 AceView cDNA sequences (see all 950):

    CR597092 AA776595 AU117140 AU155859 AL600076 BE552121 BQ228145 CB134254 
    CA841246 BQ213244 AI832745 BG235926 AL046786 BM311897 BG033833 AA329867 
    BM769251 T40101 BE835349 AI523275 BQ230055 AA862773 BG500000 AI052668 

    GeneLoc Exon Structure

    5/25 Alternative Splicing Database (ASD) splice patterns (SP) for MATR3 (see all 25)    About this scheme

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

    ExUns: 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b
    SP1:                          -                                                     -     -                                 
    SP2:                          -                                                                                             
    SP3:                          -                                                                                             
    SP4:                          -                                                                                             
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for MATR3

    (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

    MATR3 expression in normal human tissues (normalized intensities)      MATR3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGGAATGT
    MATR3 Expression
    About this image


    MATR3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See MATR3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MATR3

    SOURCE GeneReport for Unigene cluster: Hs.268939
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MATR3 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Matr31 , 5 matrin 31, 5 94.84(n)1
    98.46(a)1
      18 (19.14 cM)5
    171841  NM_010771.61  NP_034901.21 
     355621585 
    chicken
    (Gallus gallus)
    Aves MATR31 matrin 3 83.39(n)
    84.67(a)
      373948  NM_204147.1  NP_989478.1 
    lizard
    (Anolis carolinensis)
    Reptilia MATR36
    matrin 3
    73(a)
    1 ↔ 1
    1(131965325-132000296)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76632 Xenopus laevis transcribed sequence with weak similarity more 75.56(n)    BU900762.1 
    zebrafish
    (Danio rerio)
    Actinopterygii matr3l1 matrin 3-like 44.83(n)
    29.42(a)
      556290  XM_003199899.1  XP_003199947.1 


    ENSEMBL Gene Tree for MATR3 (if available)
    TreeFam Gene Tree for MATR3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MATR3 gene
    RBM202  
    4 SIMAP similar genes for MATR3 using alignment to 20 protein entries:     MATR3_HUMAN (see all proteins):
    DKFZp686K0542    DKFZp686K23100    DKFZp686L22104    PTBP1

    MATR3 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for MATR3
    PGOHUM00000244127 PGOHUM00000244829 PGOHUM00000238280 PGOHUM00000241839


    (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

    10/1101 SNPs in MATR3 are shown (see all 1101)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214345911,2,4
    CMyopathy, distal, 2 (MPD2)4 pathogenic1138919604(+) GCAGTC/GTATAT 10 S C mis1 int10--------
    rs357597331,2
    C--138613450(+) TTTTTT/-TTTTT 3 -- int11Minor allele frequency- -:0.00NA 2
    rs1131717111,2
    C--138616533(+) TGGTATTCTG/
            
    TTCCT
    3 -- int11Minor allele frequency- -:0.50CSA 2
    rs724120771,2
    C--138622533(+) GTCTCAA/-AAAAA 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs1121073151,2
    C--138642997(+) TACCAT/-TTTTT 6 -- ut51 int11Minor allele frequency- -:0.50CSA 2
    rs591503591,2
    C--138643002(+) TTTTT-/G/TGAAGC 10 -- ut51 int11NA 2
    rs1405298791,2
    C--138648715(+) ACCAG-/T/TT  
            
    TTTTT
    6 -- int10--------
    rs340732071,2
    C--138648733(+) TTTTT-/TTAGGAG 6 -- int11Minor allele frequency- TT:0.00NA 2
    rs113663741,2
    C--138649035(+) TTTTT-/T/TTT 
            
    AGCAC
    11 -- int1 cds1 trp31NA 2
    rs2015462621,2
    C--138655637(+) TTTTT-/TGAGAC 6 -- int10--------

    HapMap Linkage Disequilibrium report for MATR3 (138609441 - 138667366 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MATR3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730827CNV Deletion23290073
    esv2730825CNV Deletion23290073
    esv2730826CNV Deletion23290073
    nsv882940CNV Loss21882294


    Human Gene Mutation Database (HGMD): MATR3

    Locus Specific Mutation Databases (LSDB): MATR3
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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: 164015   
    OMIM disorders: 606070  
    UniProtKB/Swiss-Prot: MATR3_HUMAN, P43243
  • Myopathy, distal, 2 (MPD2) [MIM:606070]: A muscular disorder characterized by distal weakness, with onset
    in hands and feet, associated with vocal cord and pharyngeal weakness causing a nasal voice and swallowing
    disorders. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for MATR3:    About MalaCards
    pharyngitis    distal myopathy with vocal cord weakness    myopathy    diastrophic dysplasia
    myelodysplastic syndromes    muscular dystrophy    down syndrome    acute myeloid leukemia
    myeloid leukemia    schizophrenia    hepatocellular carcinoma    leukemia
    lung cancer    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for MATR3:
    Distal muscular dystrophy

    MATR3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MATR3
    Human Genome Epidemiology (HuGE) Navigator: MATR3 (5 documents)

    Export disorders for MATR3 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 MATR3 gene, integrated from 9 sources (see all 101):
    (articles sorted by number of sources associating them with MATR3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. (PubMed id 19344878)1, 2, 3, 9 Senderek J....Jackson C.E. (2009)
    2. Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain. (PubMed id 2033075)1, 2, 3, 9 Belgrader P.... Berezney R. (1991)
    3. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    4. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    5. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)
    6. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. (PubMed id 19240791)1, 4 Graubert T.A....Walter M.J. (2009)
    7. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (2008)
    8. Proteomic and functional analysis of Argonaute-containing mRNA- protein complexes in human cells. (PubMed id 17932509)1, 2 Hoeck J.... Meister G. (2007)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (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: 9782 HGNC: 6912 AceView: MATR3 Ensembl:ENSG00000015479 euGenes: HUgn9782
    ECgene: MATR3 H-InvDB: MATR3

    (According to HUGE)
    About This Section
    HUGE: KIAA0723

    (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 MATR3 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 MATR3 gene:
    Search GeneIP for patents involving MATR3

    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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