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IMPACT Gene

protein-coding   GIFtS: 50
GCID: GC18P022006

Impact RWD Domain Protein

(Previous name: Impact homolog (mouse))
  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)
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Aliases
Impact RWD Domain Protein1 2     RWDD52
RWD Domain Containing 51 2     Impact Homolog2
Imprinted And Ancient Gene Protein Homolog2 3     Protein IMPACT2
Impact Homolog (Mouse)1     

External Ids:    HGNC: 203871   Entrez Gene: 553642   Ensembl: ENSG000001540597   OMIM: 6153195   UniProtKB: Q9P2X33   

Export aliases for IMPACT gene to outside databases

Previous GC identifers: GC18P021899 GC18P021738 GC18P020258 GC18P020260 GC18P018862


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for IMPACT Gene:
IMPACT (impact RWD domain protein) is a protein-coding gene. Diseases associated with IMPACT include learning disability, and attention deficit hyperactivity disorder.

UniProtKB/Swiss-Prot: IMPCT_HUMAN, Q9P2X3
Function: Translational regulator that ensures constant high levels of translation under amino acid starvation.
Acts by interacting with GCN1/GCN1L1, thereby preventing activation of GCN2 protein kinases (EIF2AK1 to 4) and
subsequent down-regulation of protein synthesis (By similarity). May be required to regulate translation in
specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4
synthesis (By similarity). Through its action on GCN2, may also facilitate neuritogenesis (By similarity)




(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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RefSeq DNA sequence:
NC_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the IMPACT gene promoter:
         SRF   NRSF form 1   SRF (504 AA)   NRSF form 2   LCR-F1   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIMPACT promoter sequence
   Search Chromatin IP Primers for IMPACT

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


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

Entrez Gene cytogenetic band: 18q11.2-q12.1   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2-q12.1

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P022006:  view genomic region     (about GC identifiers)

Start:
22,006,580 bp from pter      End:
22,033,499 bp from pter
Size:
26,920 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IMPCT_HUMAN, Q9P2X3 (See protein sequence)
Recommended Name: Protein IMPACT  
Size: 320 amino acids; 36476 Da
Subunit: Interacts with GCN1/GCN1L1 (By similarity)
Miscellaneous: In contrast to the mouse or rabbit ortholog, the IMPACT locus is not imprinted in human
Secondary accessions: A8MXG0 Q49AM0 Q9H2X4
Alternative splicing: 2 isoforms:  Q9P2X3-1   Q9P2X3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IMPACT: NX_Q9P2X3

Explore proteomics data for IMPACT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_060909.1  
    ENSEMBL proteins: 
     ENSP00000284202   ENSP00000462769   ENSP00000464363   ENSP00000463895   ENSP00000463710  

    IMPACT Human Recombinant Protein Products:

    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
    OriGene Purified Protein for IMPACT
    OriGene Protein Over-expression Lysate for IMPACT
    OriGene MassSpec for IMPACT
    OriGene Custom Protein Services for IMPACT
    GenScript Custom Purified and Recombinant Proteins Services for IMPACT
    Novus Biologicals IMPACT Proteins
    Novus Biologicals IMPACT Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for IMPACT
    Cloud-Clone Corp. Proteins for IMPACT

    IMPACT Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for IMPACT
    Novus Biologicals IMPACT Antibodies
    Abcam antibodies for IMPACT
    Cloud-Clone Corp. Antibodies for IMPACT
    Search ThermoFisher Antibodies for IMPACT
    LSBio Antibodies in human, mouse, rat for IMPACT

    IMPACT Assay Products:

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR020569 UPF0029_Impact_CS
     IPR023582 Impact
     IPR001498 Impact_N
     IPR020568 Ribosomal_S5_D2-typ_fold
     IPR006575 RWD-domain

    Graphical View of Domain Structure for InterPro Entry Q9P2X3

    ProtoNet protein and cluster: Q9P2X3

    3 Blocks protein domains:
    IPB000608 Ubiquitin-conjugating enzymes
    IPB001498 Protein of unknown function UPF0029
    IPB006575 RWD


    UniProtKB/Swiss-Prot: IMPCT_HUMAN, Q9P2X3
    Similarity: Belongs to the IMPACT family
    Similarity: Contains 1 RWD domain


    IMPACT 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IMPCT_HUMAN, Q9P2X3
    Function: Translational regulator that ensures constant high levels of translation under amino acid starvation.
    Acts by interacting with GCN1/GCN1L1, thereby preventing activation of GCN2 protein kinases (EIF2AK1 to 4) and
    subsequent down-regulation of protein synthesis (By similarity). May be required to regulate translation in
    specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4
    synthesis (By similarity). Through its action on GCN2, may also facilitate neuritogenesis (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    IMPACT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IMPACT:
     Decreased viability of wild-ty 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IMPACT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IMPACT

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target IMPACT:
    hsa-mir-124-3p (MIRT022642)

    Block miRNA regulation of human, mouse, rat IMPACT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IMPACT (see all 44):
    hsa-miR-607 hsa-miR-300 hsa-miR-488 hsa-miR-3167 hsa-miR-374c hsa-miR-548m hsa-miR-1276 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidIMPACT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IMPACT
    Predesigned siRNA for gene silencing in human, mouse, rat IMPACT

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

    Clone
    Products:
         
    OriGene clones in human, mouse for IMPACT (see all 7)
    OriGene ORF clones in mouse, rat for IMPACT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IMPACT (NM_018439)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IMPACT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMPACT

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for IMPACT
    Browse ESI BIO Cell Lines and PureStem Progenitors for IMPACT 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMPACT


    (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
    IMPCT_HUMAN, Q9P2X3: Cytoplasm (By similarity). Note=May be associated with polysomes (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    chloroplast1
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IEA--

    IMPACT for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IMPACT
    Interactions:

        Search GeneGlobe Interaction Network for IMPACT

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

    Selected Interacting proteins for IMPACT (ENSP000002842024) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GCN1L1ENSP000003006484STRING: ENSP00000300648
    PSMD12ENSP000003484424STRING: ENSP00000348442
    SKP1ENSP000002314874STRING: ENSP00000231487
    COPS5ENSP000003505124STRING: ENSP00000350512
    EIF2S1ENSP000002563834STRING: ENSP00000256383
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001933negative regulation of protein phosphorylation IEA--
    GO:0006446regulation of translational initiation IEA--
    GO:0008150biological_process ND--

    IMPACT for ontologies           About GeneDecksing



    (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 IMPACT (IMPCT)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IMPACT gene: 
    NM_018439.3  

    Unigene Cluster for IMPACT:

    Impact RWD domain protein
    Hs.515317  [show with all ESTs]
    Unigene Representative Sequence: NM_018439
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284202(uc002kvh.4 uc002kvg.4) ENST00000580706 ENST00000585067
    ENST00000578221 ENST00000581278 ENST00000580035
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat IMPACT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IMPACT (see all 44):
    hsa-miR-607 hsa-miR-300 hsa-miR-488 hsa-miR-3167 hsa-miR-374c hsa-miR-548m hsa-miR-1276 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidIMPACT 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for IMPACT
    Predesigned siRNA for gene silencing in human, mouse, rat IMPACT
    Clone
    Products:
         
    OriGene clones in human, mouse for IMPACT (see all 7)
    OriGene ORF clones in mouse, rat for IMPACT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IMPACT (NM_018439)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IMPACT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMPACT
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for IMPACT
    OriGene qSTAR qPCR primer pairs in human, mouse for IMPACT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IMPACT
      QuantiTect SYBR Green Assays in human, mouse, rat IMPACT
      QuantiFast Probe-based Assays in human, mouse, rat IMPACT

    Additional mRNA sequence: 

    AB026264.1 AF208694.1 AK292533.1 AK312727.1 BC034016.1 BC036074.1 

    5 DOTS entries:

    DT.314820  DT.101976652  DT.100784358  DT.97798078  DT.100784362 

    Selected AceView cDNA sequences (see all 96):

    BX336973 NM_018439 CB269109 CR605287 AI611292 AI142901 BC034016 AL691918 
    BM456920 BE380089 BM129800 AB026264 AI401162 BU854385 BE502473 BU183233 
    BX505308 BX477048 BG105729 BM978860 BM129513 BM923335 BU567421 BE465780 

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


    IMPACT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    IMPACT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IMPACT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515317

    UniProtKB/Swiss-Prot: IMPCT_HUMAN, Q9P2X3
    Tissue specificity: Widely expressed. Expressed at high level in brain

        Custom PCR Arrays for IMPACT
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IMPACT
    QuantiTect SYBR Green Assays in human, mouse, rat IMPACT
    QuantiFast Probe-based Assays in human, mouse, rat IMPACT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMPACT

    (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 and fungi.

    Orthologs for IMPACT gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Impact1 , 5 imprinted and ancient5
    impact, RWD domain protein1
    82.08(n)1
    82.3(a)1
      18 (6.87 cM)5
    162101  NM_008378.21  NP_032404.11 
     129722525 
    chicken
    (Gallus gallus)
    Aves IMPACT1 Impact homolog (mouse) 73.03(n)
    70.39(a)
      421080  XM_419166.4  XP_419166.3 
    lizard
    (Anolis carolinensis)
    Reptilia IMPACT6
    impact RWD domain protein
    74(a)
    1 ↔ 1
    4(37738828-37760763)
    African clawed frog
    (Xenopus laevis)
    Amphibia impact-A-prov2 impact protein 80.71(n)    AB020319.1 
    zebrafish
    (Danio rerio)
    Actinopterygii impact1 Impact homolog (mouse) 64.63(n)
    65.65(a)
      449553  NM_001005595.1  NP_001005595.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y52B11A.21 CELE_Y52B11A.2 52.36(n)
    42.11(a)
      173001  NM_001026611.2  NP_001021782.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YIH1(YCR059C)4
    YIH11
    Protein that inhibits activation of Gcn2p, an eIF2 more4
    YIH11
    50.71(n)1
    48.72(a)1
      3(224230-223454)4
    8504231, 4  NP_009985.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IMPACT gene

    IMPACT for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for IMPACT
    PGOHUM00000239726 PGOHUM00000257109 PGOHUM00000249672


    (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 IMPACT (see all 600)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842937481,2
    --22004683(+) CATGGA/CGTTTT 1 -- us2k10--------
    rs6311471,2
    C,F,A--22004698(+) ACTTGG/TGTTTT 1 -- us2k19Minor allele frequency- T:0.10NA EA WA 656
    rs18334001,2
    C,F,A,H--22004707(+) TTAAAC/GTTTTA 1 -- us2k116Minor allele frequency- G:0.36MN EA NS NA WA 2460
    rs1870769471,2
    --22004815(+) CAGAAC/TAAATT 1 -- us2k10--------
    rs1139877431,2
    F--22004877(+) GTGTGC/AAAACC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs778328961,2
    C--22004895(+) TTGCAT/CAGAAG 1 -- us2k12Minor allele frequency- C:0.17CSA WA 120
    rs1448049161,2
    --22004990(+) ATTGAC/GGAGGG 1 -- us2k10--------
    rs455322361,2
    C,F--22005056(+) CATCTA/CTACAA 1 -- us2k110Minor allele frequency- C:0.42NS NA WA EA 402
    rs1485285611,2
    --22005257(+) ACCATA/TCATTA 1 -- us2k10--------
    rs1404494791,2
    C--22005296(+) TACCT-/TTTC  
            
    TTTGT
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for IMPACT (22006580 - 22033499 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for IMPACT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv909461CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IMPACT
    DNA2.0 Custom Variant and Variant Library Synthesis for IMPACT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615319    OMIM disorders: --

    8 diseases for IMPACT:    
    About MalaCards
    learning disability    attention deficit hyperactivity disorder    hepatitis b    tonsillitis
    hepatitis    cerebritis    thyroiditis    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for IMPACT:
    Attention deficit hyperactivity disorder     Learning disability

    IMPACT for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: IMPACT (3243 documents)

    Export disorders for IMPACT 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 IMPACT gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with IMPACT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative genome analysis of the mouse imprinted gene impact and its nonimprinted human homolog IMPACT: toward the structural basis for species-specific imprinting. (PubMed id 11116084)1, 2, 3 Okamura K.... Ito T. (Genome Res. 2000)
    2. Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder. (PubMed id 11244491)1, 2 Kosaki K....Matsuo N. (Mol. Psychiatry 2001)
    3. Evidence that Yih1 resides in a complex with ribosomes. (PubMed id 22404850)1 Waller T....Sattlegger E. (FEBS J. 2012)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    7. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    8. High expression of IMPACT protein promotes resistance to indoleamine 2,3-dioxygenase-induced cell death. (PubMed id 20648630)1 Habibi D....Ghahary A. (J. Cell. Physiol. 2010)
    9. Comparative genomics approach toward critical determinants for the imprinting of an evolutionarily conserved gene Impact. (PubMed id 15752730)1 Okamura K.... Ito T. (Biochem. Biophys. Res. Commun. 2005)
    10. IMPACT, a protein preferentially expressed in the mouse brain, binds GCN1 and inhibits GCN2 activation. (PubMed id 15937339)1 Pereira C.M....Castilho B.A. (J. Biol. Chem. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55364 HGNC: 20387 AceView: IMPACT Ensembl:ENSG00000154059 euGenes: HUgn55364
    ECgene: IMPACT H-InvDB: IMPACT

    (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 IMPACT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for IMPACT gene:
    Search GeneIP for patents involving IMPACT

    GeneCards and IP:
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