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TREX1 Gene

protein-coding   GIFtS: 60
GCID: GC03P048506

Three Prime Repair Exonuclease 1

(Previous name: Aicardi-Goutieres syndrome 1)
(Previous symbol: AGS1)
  See TREX1-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)
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Aliases
Three Prime Repair Exonuclease 11 2     Aicardi-Goutieres Syndrome 11
AGS11 2 5     3' Repair Exonuclease 12
3'-5' Exonuclease TREX12 3     DRN32
DNase III2 3     Deoxyribonuclease III2
CRV2 5     EC 3.1.11.23
HERNS2 5     

External Ids:    HGNC: 122691   Entrez Gene: 112772   Ensembl: ENSG000002136897   OMIM: 6066095   UniProtKB: Q9NSU23   

Export aliases for TREX1 gene to outside databases

Previous GC identifers: GC03P048289 GC03P047770 GC03P048448 GC03P048463 GC03P048482


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TREX1 Gene:
This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA
repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in
Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep 2012)

GeneCards Summary for TREX1 Gene:
TREX1 (three prime repair exonuclease 1) is a protein-coding gene. Diseases associated with TREX1 include chilblain lupus, and retinal vasculopathy with cerebral leukodystrophy. GO annotations related to this gene include single-stranded DNA binding and protein homodimerization activity. An important paralog of this gene is TREX2.

UniProtKB/Swiss-Prot: TREX1_HUMAN, Q9NSU2
Function: Exonuclease with a preference for double-stranded DNA with mismatched 3' termini. May play a role in DNA
repair

Gene Wiki entry for TREX1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the TREX1 gene promoter:
         GR   AML1a   p53   GR-beta   GR-alpha   ATF   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TREX1 promoter sequence
   Search Chromatin IP Primers for TREX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TREX1


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

TREX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TREX1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P048506:  view genomic region     (about GC identifiers)

Start:
48,506,445 bp from pter      End:
48,509,044 bp from pter
Size:
2,600 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TREX1_HUMAN, Q9NSU2 (See protein sequence)
Recommended Name: Three prime repair exonuclease 1  
Size: 369 amino acids; 38923 Da
Cofactor: Binds 2 Mg(2+) per subunit. The second magnesium ion interacts with only one residue. Substitution with
Mn(2+) results in partial activity (By similarity)
Subunit: Homodimer. Interacts (via proline-rich region) with TCERG1/CA150 (via the second WW domain) (By
similarity)
Caution: The gene for this protein is either identical to or adjacent to that of ATRIP. Some of the mRNAs that
encode ATRIP also encode TREX1 in another reading frame
Sequence caution: Sequence=AAD48774.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RCN9 Q8TEU2 Q9BPW1 Q9Y4X2
Alternative splicing: 3 isoforms:  Q9NSU2-1   Q9NSU2-2   Q9NSU2-3   

Explore the universe of human proteins at neXtProt for TREX1: NX_Q9NSU2

Explore proteomics data for TREX1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys230
  • Modification sites at PhosphoSitePlus

  • See TREX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_009179.2  NP_057465.1  NP_338599.1  

    ENSEMBL proteins: 
     ENSP00000296443   ENSP00000412404   ENSP00000415972   ENSP00000411331   ENSP00000390478  
     ENSP00000392569  
    Reactome Protein details: Q9NSU2

    TREX1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TREX1

     
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    antibodies-online proteins for TREX1 (7 products) 

     
    antibodies-online peptides for TREX1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012337 RNaseH-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9NSU2

    ProtoNet protein and cluster: Q9NSU2

    1 Blocks protein domain: IPB006055 Exonuclease

    UniProtKB/Swiss-Prot: TREX1_HUMAN, Q9NSU2
    Similarity: Belongs to the exonuclease superfamily. TREX family


    Find genes that share domains with TREX1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TREX1_HUMAN, Q9NSU2
    Function: Exonuclease with a preference for double-stranded DNA with mismatched 3' termini. May play a role in DNA
    repair
    Catalytic activity: Exonucleolytic cleavage in the 3'- to 5'-direction to yield nucleoside 5'-phosphates

         Enzyme Number (IUBMB): EC 3.1.11.21

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003690double-stranded DNA binding IEA--
    GO:0003697single-stranded DNA binding TAS10391904
    GO:0004527exonuclease activity ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with TREX1           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Trex1):
     cardiovascular system  cellular  digestive/alimentary  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     muscle  renal/urinary system  respiratory system  vision/eye 

    Find genes that share phenotypes with TREX1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TREX1: Trex1tm1Tld Trex1tm1(KOMP)Wtsi

       genOway: Develop your customized and physiologically relevant rodent model for TREX1

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    Gene Editing
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TREX1_HUMAN, Q9NSU2: Nucleus (By similarity). Cytoplasm (By similarity). Note=Retained in the cytoplasm through
    the C-terminal region (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    endoplasmic reticulum1
    endosome1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope NAS10391904
    GO:0005730nucleolus IDA--
    GO:0005789endoplasmic reticulum membrane TAS--

    Find genes that share ontologies with TREX1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TREX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    STING mediated induction of host immune responses0.00
    Cytosolic DNA-sensing pathway0.33
    IRF3-mediated induction of type I IFN0.00
    Regulation of innate immune responses to cytosolic DNA0.00
    Regulation by TREX10.00
    2Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32


    Find genes that share SuperPaths with TREX1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TREX1
        DNA Repair Mechanisms

    2 Reactome Pathways for TREX1
        Regulation by TREX1
    IRF3-mediated induction of type I IFN


    1 Kegg Pathway  (Kegg details for TREX1):
        Cytosolic DNA-sensing pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including TREX1: 
              DNA Repair in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TREX1

    Selected Interacting proteins for TREX1 (Q9NSU22, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IFT20Q8IY312, 3MINT-67379 I2D: score=2 
    SETQ011053I2D: score=2 
    ATMQ133153I2D: score=1 
    ATRQ135353I2D: score=1 
    MCM7P339933I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000738DNA catabolic process, exonucleolytic TAS10393201
    GO:0006259DNA metabolic process ISS--
    GO:0006260DNA replication NAS10391904
    GO:0006281DNA repair TAS10393201
    GO:0006298mismatch repair NAS10391904

    Find genes that share ontologies with TREX1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TREX1

    1 HMDB Compound for TREX1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    4 Novoseek inferred chemical compound relationships for TREX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoglycolate 80.8 1 11839093 (1)
    phosphonate 54.8 1 11839093 (1)
    phosphoinositide 32.3 1 15527801 (1)
    oligonucleotide 13.1 2 17224176 (1), 11279105 (1)



    Find genes that share compounds with TREX1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TREX1 gene (5 alternative transcripts): 
    NM_007248.3  NM_016381.5  NM_033629.4  NM_033627.3  NM_033628.2  

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395677(uc003ctj.3) ENST00000296443(uc010hjy.3 uc010hjz.3)
    ENST00000433541(uc003ctk.3) ENST00000444177 ENST00000456089 ENST00000492235
    ENST00000422277(uc010hka.3) ENST00000436480
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    Selected AceView cDNA sequences (see all 185):

    BM832282 BQ639037 AI080144 BP367362 BC014153 NM_033627 BM457616 BM919749 
    BF914851 AF451323 BF588494 NM_130384 AL832917 BC020563 AU140363 AI422509 
    NM_033628 AI285342 AL137745 AU147975 AF151105 AW317078 BC019863 NM_033629 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TREX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGGGGTCA
    TREX1 Expression
    About this image

    TREX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TREX1 Protein Expression

    UniProtKB/Swiss-Prot: TREX1_HUMAN, Q9NSU2
    Tissue specificity: Detected in thymus, spleen, liver, brain, heart, small intestine and colon

        Pathway & Disease-focused RT2 Profiler PCR Array including TREX1: 
              DNA Repair in human mouse rat

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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TREX1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trex11 , 5 three prime repair exonuclease 11, 5 80.09(n)1
    73.8(a)1
      9 (59.63 cM)5
    220401  NM_001012236.11  NP_001012236.11 
     1090579335 
    lizard
    (Anolis carolinensis)
    Reptilia TREX16
    three prime repair exonuclease 1
    45(a)
    1 ↔ 1
    2(155923062-155923799)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.11852 Transcribed sequence with weak similarity to protein more 79.53(n)    142016464 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG31656
    --
    21(a)
    1 → many
    2L(2977132-2978500)


    ENSEMBL Gene Tree for TREX1 (if available)
    TreeFam Gene Tree for TREX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TREX1 gene
    TREX22  
    1 SIMAP similar gene for TREX1 using alignment to 5 protein entries:     TREX1_HUMAN (see all proteins):
    TREX2

    Find genes that share paralogs with TREX1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TREX1 (see all 190)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0379484
    Chilblain lupus 1 (CHBL1)4--see VAR_0379482 D N mis40--------
    rs1127419621,2,4
    Systemic lupus erythematosus (SLE)4--see VAR_0379522 mis40--------
    rs1131077331,2,4
    Systemic lupus erythematosus (SLE)4--see VAR_0379502 mis40--------
    VAR_0329404
    Aicardi-Goutieres syndrome 1 (AGS1)4--see VAR_0329402 D N mis40--------
    VAR_0283194
    Systemic lupus erythematosus (SLE)4--see VAR_0283192 R H mis40--------
    rs725565551,2,4
    Systemic lupus erythematosus (SLE)4--see VAR_0379512 mis40--------
    VAR_0379554
    Systemic lupus erythematosus (SLE)4--see VAR_0379552 Y C mis40--------
    VAR_0379494
    Systemic lupus erythematosus (SLE)4--see VAR_0379492 A V mis40--------
    VAR_0379544
    Systemic lupus erythematosus (SLE)4--see VAR_0379542 P L mis40--------
    VAR_0283214
    Aicardi-Goutieres syndrome 1 (AGS1)4--see VAR_0283212 V D mis40--------

    HapMap Linkage Disequilibrium report for TREX1 (48506445 - 48509044 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TREX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508917CNV Insertion20534489
    nsv834684CNV Gain17160897

    Human Gene Mutation Database (HGMD): TREX1
    Locus Specific Mutation Databases (LSDB): TREX1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TREX1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606609   
    OMIM disorders: 225750  610448  192315  152700  
    UniProtKB/Swiss-Prot: TREX1_HUMAN, Q9NSU2
  • Aicardi-Goutieres syndrome 1 (AGS1) [MIM:225750]: A form of Aicardi-Goutieres syndrome, a genetically
    heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications,
    chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic
    investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and
    elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe
    neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and
    profound psychomotor retardation. Death often occurs in early childhood. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile
    multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints,
    kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory
    mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated
    erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Chilblain lupus 1 (CHBL1) [MIM:610448]: A rare cutaneous form of lupus erythematosus. Affected
    individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations
    precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Vasculopathy, retinal, with cerebral leukodystrophy (RVCL) [MIM:192315]: A microvascular endotheliopathy
    resulting in central nervous system degeneration and retinopathy, with progressive loss of vision, stroke, motor
    impairment, and cognitive decline. The ocular manifestations are characterized by telangiectasias, microaneurysms
    and retinal capillary obliteration starting in the macula. Diseased cerebral white matter has prominent small
    infarcts that often coalesce to pseudotumors. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 12 diseases for TREX1:    
    About MalaCards
    chilblain lupus    retinal vasculopathy with cerebral leukodystrophy    systemic lupus erythematosus or protection against}    aicardi-goutieres syndrome
    aicardi-goutieres syndrome type 1    aicardi-goutieres syndrome 1, dominant and recessive    systemic lupus erythematosus, association with    encephalitis
    aicardi-goutieres syndrome 7    werner syndrome    systemic lupus erythematosus    inclusion body myositis

    2 diseases from the University of Copenhagen DISEASES database for TREX1:
    Lupus erythematosus     Connective tissue disease

    Find genes that share disorders with TREX1           About GenesLikeMe

    2 Novoseek inferred disease relationships for TREX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    werner syndrome 61.3 1 16822725 (1)
    cancer 0 1 17616665 (1)

    GeneTests: TREX1
    GeneReviews: TREX1
    Genetic Association Database (GAD): TREX1
    Human Genome Epidemiology (HuGE) Navigator: TREX1 (5 documents)

    Export disorders for TREX1 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)
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    PubMed articles for TREX1 gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with TREX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. (PubMed id 16845398)1, 2, 3 Crow Y.J.... Lindahl T. (Nat. Genet. 2006)
    2. Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases. (PubMed id 10391904)1, 2, 3 Mazur D.J. and Perrino F.W. (J. Biol. Chem. 1999)
    3. A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein. (PubMed id 10393201)1, 2, 3 Hoess M....Lindahl T. (EMBO J. 1999)
    4. The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. (PubMed id 17293595)1, 2, 9 de Silva U....Hollis T. (J. Biol. Chem. 2007)
    5. Structure and expression of the TREX1 and TREX2 3'-->5' exonuclease genes. (PubMed id 11278605)1, 2, 9 Mazur D.J. and Perrino F.W. (J. Biol. Chem. 2001)
    6. TREX1 polymorphisms associated with autoantibodies in patients with systemic lupus erythematosus. (PubMed id 18092167)1, 4, 9 Hur J.W....Bae S.C. (Rheumatol. Int. 2008)
    7. TREX1 mutations are not associated with sporadic inclusion body myositis. (PubMed id 20192983)1, 4 Cox F.M....Badrising U.A. (Eur. J. Neurol. 2010)
    8. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi- Goutieres syndrome. (PubMed id 20799324)1, 2 Haaxma C.A.... Willemsen M.A. (Am. J. Med. Genet. A 2010)
    9. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. (PubMed id 17660818)1, 2 Lee-Kirsch M.A.... Huebner N. (Nat. Genet. 2007)
    10. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. (PubMed id 17660820)1, 2 Richards A....Atkinson J.P. (Nat. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      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)
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    Entrez Gene: 11277 HGNC: 12269 AceView: TREX1 Ensembl:ENSG00000213689 euGenes: HUgn11277
    ECgene: TREX1 Kegg: 11277 H-InvDB: TREX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TREX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TREX1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TREX1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/trex1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TREX1 gene:
    Search GeneIP for patents involving TREX1

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



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