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

ATMIN Gene

protein-coding   GIFtS: 51
GCID: GC16P081069

ATM Interactor

  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
ATM Interactor1 2     ZNF8222 3
ATM INteracting Protein1 2     ATM/ATR-Substrate CHK2-Interacting Zinc Finger Protein2 3
ATM/ATR-Substrate Chk2-Interacting Zn++-Finger Protein1 2     ATM/ATR-Substrate CHEK2-Interacting Zinc Finger Protein2
Zinc Finger Protein 8222 3     KIAA04313
ASCIZ2 3     

External Ids:    HGNC: 290341   Entrez Gene: 233002   Ensembl: ENSG000001664547   OMIM: 6146935   UniProtKB: O433133   

Export aliases for ATMIN gene to outside databases

Previous GC identifers: GC16P079628 GC16P066826


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ATMIN Gene: 
ATMIN (ATM interactor) is a protein-coding gene. Diseases associated with ATMIN include nijmegen breakage syndrome, and ataxia telangiectasia. GO annotations related to this gene include dynein binding and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot: ATMIN_HUMAN, O43313
Function: Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to
methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role
in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription




(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_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATMIN gene promoter:
         GR   ISGF-3   RFX1   GR-beta   Egr-1   Olf-1   CUTL1   STAT5A   Egr-4   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATMIN promoter sequence
   Search SABiosciences Chromatin IP Primers for ATMIN

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


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

Entrez Gene cytogenetic band: 16q23.2   Ensembl cytogenetic band:  16q23.2   HGNC cytogenetic band: 16q23.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P081069:  view genomic region     (about GC identifiers)

Start:
81,069,452 bp from pter      End:
81,080,963 bp from pter
Size:
11,512 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: ATMIN_HUMAN, O43313 (See protein sequence)
Recommended Name: ATM interactor  
Size: 823 amino acids; 88348 Da
Subunit: Interacts via its C-terminus with ATM. Interacts with DYNLL1; this interaction inhibits ATMIN
transcriptional activity and hence may play a role in a feedback loop whereby DYNLL1 inhibits transactivation of
its own promoter by ATMIN
Subcellular location: Nucleus. Note=Nuclear, in discrete foci during G1 phase
Sequence caution: Sequence=BAA24861.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAF83632.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K4H8 Q68DC9
Alternative splicing: 2 isoforms:  O43313-1   O43313-2   

Explore the universe of human proteins at neXtProt for ATMIN: NX_O43313

Explore proteomics data for ATMIN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43313

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

    ATMIN Protein Expression
    REFSEQ proteins: NP_056066.2  
    ENSEMBL proteins: 
     ENSP00000299575   ENSP00000463478   ENSP00000464427   ENSP00000455497  

    Human Recombinant Protein Products for ATMIN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ATMIN
    GenScript Custom Purified and Recombinant Proteins Services for ATMIN
    Novus Biologicals ATMIN Protein
    Novus Biologicals ATMIN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATMIN 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    ATMIN for ontologies           About GeneDecksing



    ATMIN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATMIN
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    Novus Biologicals ATMIN Antibodies
    Abcam antibodies for ATMIN
    Cloud-Clone Corp. Antibodies for ATMIN 
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    LSBio Antibodies in human, mouse, rat for ATMIN 

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZNF: Zinc fingers, C2H2-type

    2 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry O43313

    ProtoNet protein and cluster: O43313

    UniProtKB/Swiss-Prot: ATMIN_HUMAN, O43313
    Similarity: Contains 2 C2H2-type zinc fingers


    ATMIN 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: ATMIN_HUMAN, O43313
    Function: Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to
    methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role
    in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17525732
    GO:0008270zinc ion binding ----
    GO:0044212transcription regulatory region DNA binding IEA--
    GO:0045502dynein binding IPI--
    GO:0046872metal ion binding IEA--
         
    ATMIN for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Atmin):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     respiratory system 

    ATMIN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ATMIN: Atmintm1.1Jhh Atmintm1.1Axbe

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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATMIN
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate ATMIN (see all 42):
    hsa-miR-2052 hsa-miR-3607-3p hsa-miR-4307 hsa-miR-4328 hsa-miR-429 hsa-miR-374a hsa-miR-449a hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidATMIN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATMIN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATMIN

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

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ATMIN (see all 5)
    OriGene ORF clones in mouse, rat for ATMIN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATMIN (NM_015251)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATMIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATMIN
    Sirion Biotech Customized lentivirus for stable overexpression of ATMIN 
                         Customized lentivirus expression plasmids for stable overexpression of ATMIN 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ATMIN
    Search LifeMap BioReagents cell lines for ATMIN
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATMIN


    (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 ATMIN

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    4 Interacting proteins for ATMIN (O433132, 3 ENSP000002995754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATMQ133152, 3, ENSP000002786164MINT-4979579 MINT-4979598 MINT-4979635 MINT-4979556 MINT-4979615 I2D: score=1 STRING: ENSP00000278616
    ATRQ135353I2D: score=2 
    CHEK2O960173I2D: score=1 
    MAPK6Q166593I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006974response to DNA damage stimulus IEA--
    GO:0045893positive regulation of transcription, DNA-dependent IDA--

    ATMIN 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 ATMIN

    Search CenterWatch for drugs/clinical trials and news about ATMIN

    (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 ATMIN gene: 
    NM_015251.2  

    Unigene Clusters for ATMIN:

    ATM interactor
    Hs.16349  [show with all ESTs], Hs.589959  [show with all ESTs]
    Unigene Representative Sequences: NM_015251, AK302556
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299575(uc002ffz.1) ENST00000562969 ENST00000539819 ENST00000564241(uc002fga.2 uc010vnn.1)
    ENST00000565237 ENST00000566488(uc002fgb.1)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATMIN
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate ATMIN (see all 42):
    hsa-miR-2052 hsa-miR-3607-3p hsa-miR-4307 hsa-miR-4328 hsa-miR-429 hsa-miR-374a hsa-miR-449a hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidATMIN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATMIN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATMIN
    Clone
    Products:
         
    OriGene clones in human, mouse for ATMIN (see all 5)
    OriGene ORF clones in mouse, rat for ATMIN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATMIN (NM_015251)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATMIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATMIN
    Sirion Biotech Customized lentivirus for stable overexpression of ATMIN 
                         Customized lentivirus expression plasmids for stable overexpression of ATMIN 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ATMIN
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATMIN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATMIN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATMIN

    Additional mRNA sequence: AK302556.1 

    24 DOTS entries:

    DT.98132133  DT.100789655  DT.91827985  DT.100789659  DT.91654180  DT.92019225  DT.97771312  DT.120699340 
    DT.91903189  DT.100712549  DT.100789658  DT.120882176  DT.120927408  DT.120927497  DT.120927763  DT.40291255 
    DT.91742731  DT.92370997  DT.97844445  DT.100720189  DT.101980064  DT.120927548  DT.91879950  DT.91994954 

    24/313 AceView cDNA sequences (see all 313):

    AI927910 BM561587 AA805160 AI628441 BI061413 AA825728 BM726662 Z38264 
    AI354700 AI079697 BM784704 BI062258 BQ086374 AW188054 BI063136 F05246 
    W40121 AU130720 AI370602 AA434583 BQ918132 CB242145 BQ927295 CR624345 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ATMIN    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b
    SP1:              -           -                     
    SP2:                          -     -               
    SP3:              -                                 


    ECgene alternative splicing isoforms for ATMIN

    (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

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


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

    SOURCE GeneReport for Unigene clusters: Hs.16349 Hs.589959

    UniProtKB/Swiss-Prot: ATMIN_HUMAN, O43313
    Tissue specificity: Ubiquitously expressed in normal tissues and cancer cell lines with highest levels in placenta
    and skeletal muscle

        SABiosciences Custom PCR Arrays for ATMIN
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATMIN

    (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 ATMIN gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atmin1 , 5 ATM interactor1, 5 81.05(n)1
    79.71(a)1
      8 (63.37 cM)5
    2347761  NM_177700.41  NP_808368.31 
     1169433935 
    chicken
    (Gallus gallus)
    Aves ATMIN1 ATM interactor 72.97(n)
    70.43(a)
      426138  XM_423809.3  XP_423809.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATMIN6
    Uncharacterized protein
    64(a)
    1 ↔ 1
    LGc(5681509-5687968)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.198022 Transcribed sequence with moderate similarity to protein more 74.03(n)    AL925742.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATMIN gene
    1 SIMAP similar gene for ATMIN using alignment to 2 protein entries:     ATMIN_HUMAN (see all proteins):
    ASCIZ

    ATMIN for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ATMIN
    PGOHUM00000239469 PGOHUM00000236714


    (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

    10/420 SNPs in ATMIN are shown (see all 420)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1851794331,2
    --81067476(+) GGCGTA/GAGCCA 1 -- us2k10--------
    rs1478910231,2
    --81067487(+) CCATGA/CCTGGC 1 -- us2k10--------
    rs1898047761,2
    --81067771(+) GGAAGA/GCACAT 1 -- us2k10--------
    rs782511401,2
    F--81067828(+) ATGCAT/GAGGGC 1 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1820957531,2
    --81067929(+) TTTGGA/GATTTT 1 -- us2k10--------
    rs1877943851,2
    --81068099(+) TCATCA/GGTCAA 1 -- us2k10--------
    rs118631581,2
    C,F,A,H--81068130(+) caccaA/Ttttgc 1 -- us2k19Minor allele frequency- T:0.18NA CSA WA EA 370
    rs118631661,2
    C,F,H--81068182(+) caaatA/Gtatac 1 -- us2k15Minor allele frequency- G:0.01NS NA 412
    rs748040511,2
    F--81068268(+) GCCCAA/GTGTCA 1 -- us2k10--------
    rs1480831011,2
    --81068367(+) TTACTC/GATTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATMIN (81069452 - 81080963 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ATMIN:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422360CNV Duplication17116639
    nsv1897CNV Loss18451855
    dgv356n27CNV Loss19166990
    esv25835CNV Loss19812545

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

    (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: 614693    OMIM disorders: --

    3 diseases for ATMIN:    About MalaCards
    nijmegen breakage syndrome    ataxia telangiectasia    ataxia


    ATMIN for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATMIN
    Human Genome Epidemiology (HuGE) Navigator: ATMIN (1 document)

    Export disorders for ATMIN 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 ATMIN gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with ATMIN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ATMIN defines an NBS1-independent pathway of ATM signalling. (PubMed id 17525732)1, 2, 3 Kanu N. and Behrens A. (2007)
    2. ASCIZ regulates lesion-specific Rad51 focus formation and apoptosis after methylating DNA damage. (PubMed id 15933716)1, 2, 3 McNees C.J....Heierhorst J. (2005)
    3. ATM substrate Chk2-interacting Zn2+ finger (ASCIZ) Is a bi-functional transcriptional activator and feedback sensor in the regulation of dynein light chain (DYNLL1) expression. (PubMed id 22167198)1, 2 Jurado S....Heierhorst J. (2012)
    4. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (2010)
    5. ATMINistrating ATM signalling: regulation of ATM by ATMIN. (PubMed id 19001856)1, 3 Kanu N. and Behrens A. (2008)
    6. 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)
    7. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2 Ishikawa K....Ohara O. (1997)
    8. DNA damage response protein ASCIZ links base excision repair with immunoglobulin gene conversion. (PubMed id 18433721)1, 9 Oka H....Taniguchi Y. (2008)
    9. LC8 dynein light chain (DYNLL1) binds to the C-termin al domain of ATM-interacting protein (ATMIN/ASCIZ) and regulates its subcellula r localization. (PubMed id 21971545)1 Rapali P....Rodriguez-Crespo I. (2011)
    10. Dual functions of ASCIZ in the DNA base damage respon se and pulmonary organogenesis. (PubMed id 20975950)1 Jurado S....Heierhorst J. (2010)

    (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)
    About This Section
    Entrez Gene: 23300 HGNC: 29034 AceView: KIAA0431 Ensembl:ENSG00000166454 euGenes: HUgn23300
    ECgene: ATMIN H-InvDB: ATMIN

    (According to HUGE)
    About This Section
    HUGE: KIAA0431

    (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 ATMIN 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 ATMIN gene:
    Search GeneIP for patents involving ATMIN

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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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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