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

DYNC1I2 Gene

protein-coding   GIFtS: 61
GCID: GC02P172543

Dynein, Cytoplasmic 1, Intermediate Chain 2

(Previous names: dynein, cytoplasmic, intermediate polypeptide 2)
(Previous symbol: DNCI2)
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

Aliases
Dynein, Cytoplasmic 1, Intermediate Chain 21 2     IC22 5
DNCI21 2 3 5     Cytoplasmic Dynein 1 Intermediate Chain 22
Dynein, Cytoplasmic, Intermediate Polypeptide 21 2     DNCIC23
Dynein Intermediate Chain 2, Cytosolic2 3     Cytoplasmic Dynein Intermediate Chain 23
DH IC-22 3     

External Ids:    HGNC: 29641   Entrez Gene: 17812   Ensembl: ENSG000000773807   OMIM: 6033315   UniProtKB: Q134093   

Export aliases for DYNC1I2 gene to outside databases

Previous GC identifers: GC02P172370 GC02P172252 GC02P164429


(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 DYNC1I2 Gene:
This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic
component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport
organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Nov 2012)

GeneCards Summary for DYNC1I2 Gene: 
DYNC1I2 (dynein, cytoplasmic 1, intermediate chain 2) is a protein-coding gene. Diseases associated with DYNC1I2 include leukorrhea, and cardia cancer, and among its related super-pathways are G2/M Transition and Cell Cycle, Mitotic. GO annotations related to this gene include microtubule motor activity. An important paralog of this gene is DNAI2.

UniProtKB/Swiss-Prot: DC1I2_HUMAN, Q13409
Function: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are
thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function.
Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along
microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component
(p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes

Gene Wiki entry for DYNC1I2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DYNC1I2 gene promoter:
         AML1a   C/EBPalpha   Evi-1   AREB6   MEF-2A   POU2F1   POU2F1a   Sox9   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDYNC1I2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DYNC1I2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DYNC1I2


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

DYNC1I2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYNC1I2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P172543:  view genomic region     (about GC identifiers)

Start:
172,543,919 bp from pter      End:
172,604,930 bp from pter
Size:
61,012 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: DC1I2_HUMAN, Q13409 (See protein sequence)
Recommended Name: Cytoplasmic dynein 1 intermediate chain 2  
Size: 638 amino acids; 71457 Da
Subunit: Homodimer (By similarity). The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs)
and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs)
and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy
chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic
subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Interacts with
DYNLT1 and DYNLT3. Interacts with DCNT1 (By similarity). Interacts with human adenovirus 5 hexon protein; this
interaction probably allows virus intracellular transport
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
Sequence caution: Sequence=AAA89166.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Several sequence
problems;
Secondary accessions: D3DPD4 D3DPD5 D3DPD6 Q32LY9 Q53S84 Q5BJF8 Q7Z4X1 Q96NG7 Q96S87 Q9BXZ5
Q9NT58
Alternative splicing: 5 isoforms:  Q13409-1   Q13409-2   Q13409-3   Q13409-5   Q13409-6   (Contains a phosphoserine at position 73. Contains a phosphoserine at position 81)

Explore the universe of human proteins at neXtProt for DYNC1I2: NX_Q13409

Explore proteomics data for DYNC1I2 at MOPED 

Post-translational modifications:

  • UniProtKB: The phosphorylation status of Ser-90 appears to be involved in dynactin-dependent target binding (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13409

  • DYNC1I2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DYNC1I2 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001258714.1  NP_001258715.1  NP_001258716.1  NP_001258717.1  NP_001258718.1  NP_001258719.1  NP_001369.1  

    ENSEMBL proteins: 
     ENSP00000398765   ENSP00000339430   ENSP00000380308   ENSP00000386522   ENSP00000392741  
     ENSP00000423339   ENSP00000386397   ENSP00000388699   ENSP00000386591   ENSP00000386415  
     ENSP00000405454   ENSP00000386886   ENSP00000415410   ENSP00000410807   ENSP00000401005  
     ENSP00000406104   ENSP00000397654   ENSP00000394492   ENSP00000409951   ENSP00000403089  
     ENSP00000433791   ENSP00000263811   ENSP00000350692  
    Reactome Protein details: Q13409
    Human Recombinant Protein Products for DYNC1I2: 
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    Cloud-Clone Corp. Proteins for DYNC1I2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS8522607
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--
    GO:0005868cytoplasmic dynein complex IEA--
    GO:0005874microtubule IDA--

    DYNC1I2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing
    DYN: Cytoplasmic dyneins

    4 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR025956 Dynein_IC_1/2
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q13409

    ProtoNet protein and cluster: Q13409

    UniProtKB/Swiss-Prot: DC1I2_HUMAN, Q13409
    Similarity: Belongs to the dynein intermediate chain family
    Similarity: Contains 7 WD repeats


    DYNC1I2 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: DC1I2_HUMAN, Q13409
    Function: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are
    thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function.
    Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along
    microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component
    (p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity NAS8522607
    GO:0005515protein binding ----
         
    DYNC1I2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DYNC1I2:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dync1i2):
     behavior/neurological  mortality/aging 

    DYNC1I2 for phenotypes           About GeneDecksing

    Animal Models:
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    (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

    SuperPaths for DYNC1I2 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Immune System
    Immune System0.56
    Adaptive Immune System0.56
    4Cell cycle Spindle assembly and chromosome separation
    Cell cycle Spindle assembly and chromosome separation0.94
    5Regulation of degradation of wt-CFTR
    Regulation of degradation of deltaF508 CFTR in CF0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for DYNC1I2
        Cell cycle Spindle assembly and chromosome separation
    Cytoplasmic microtubules


    2 GeneGo (Thomson Reuters) Pathways for DYNC1I2
        Cell cycle Spindle assembly and chromosome separation
    Regulation of degradation of deltaF508 CFTR in CF

    5/11        Reactome Pathways for DYNC1I2 (see all 11)
        Centrosome maturation
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    Adaptive Immune System
    G2/M Transition


    3         Kegg Pathways  (Kegg details for DYNC1I2):
        Phagosome
    Vasopressin-regulated water reabsorption
    Salmonella infection


    DYNC1I2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DYNC1I2

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

    5/116 Interacting proteins for DYNC1I2 (Q134092, 3 ENSP000003803084) via UniProtKB, MINT, STRING, and/or I2D (see all 116)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYNLT3P518082, 3, ENSP000003678414MINT-66315 I2D: score=5 STRING: ENSP00000367841
    DCTN1Q142033, ENSP000003547914I2D: score=3 STRING: ENSP00000354791
    PNNQ9H3073, ENSP000002168324I2D: score=1 STRING: ENSP00000216832
    SRRM2Q9UQ353, ENSP000003017404I2D: score=1 STRING: ENSP00000301740
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006810transport IEA--
    GO:0007018microtubule-based movement NAS8522607
    GO:0019048modulation by virus of host morphology or physiology IEA--

    DYNC1I2 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
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    Browse Tocris compounds for DYNC1I2 (DC1I2)

    Search CenterWatch for drugs/clinical trials and news about DYNC1I2 / DC1I2

    (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 DYNC1I2 gene (7 alternative transcripts): 
    NM_001271785.1  NM_001271786.1  NM_001271787.1  NM_001271788.1  NM_001271789.1  NM_001271790.1  NM_001378.2  

    Unigene Cluster for DYNC1I2:

    Dynein, cytoplasmic 1, intermediate chain 2
    Hs.546250  [show with all ESTs]
    Unigene Representative Sequence: NM_001378
    18/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000452242 ENST00000340296(uc002uhb.1 uc002uhc.3) ENST00000397119(uc002uha.1)
    ENST00000410079 ENST00000471482 ENST00000438879 ENST00000508530 ENST00000409197(uc002uhf.1 uc010zdt.1)
    ENST00000456808 ENST00000409317(uc002uhd.1) ENST00000409773(uc002uhe.1)
    ENST00000411953 ENST00000409453 ENST00000445378 ENST00000435234 ENST00000443458
    ENST00000412370 ENST00000423910
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB209014.1 AF134477.1 AF250307.1 AK024742.1 AK026574.1 AK055491.1 AK096579.1 AK225759.1 
    AK298561.1 AK301866.1 AK308008.1 AK316119.1 AL137519.1 AL832832.1 AY037160.1 BC015038.2 
    BC091498.1 BC109375.1 BT007130.1 BX537412.1 DQ786313.1 DQ786324.1 U39575.1 

    24/36 DOTS entries (see all 36):

    DT.100846178  DT.91998165  DT.418547  DT.100670130  DT.120949068  DT.100846179  DT.100846181  DT.97851322 
    DT.100762482  DT.99995683  DT.100668415  DT.100846182  DT.92057415  DT.100846189  DT.40284256  DT.408071 
    DT.120949149  DT.95165877  DT.120949082  DT.120949157  DT.95165874  DT.95165875  DT.100846183  DT.100846188 

    24/409 AceView cDNA sequences (see all 409):

    CD679016 NM_001378 BC015038 D57878 BM761757 F11114 BX117871 CA420540 
    AA489519 BQ722194 BQ776321 BM548759 BP359710 CR601532 AW957518 AL548877 
    CB132407 BG110515 AA235100 BI710741 AA856654 BM677055 AI480156 AI493603 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DYNC1I2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b
    SP1:                                                                                                                        
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:        -                                                                                                               
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for DYNC1I2

    (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

    DYNC1I2 expression in normal human tissues (normalized intensities)      DYNC1I2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTAGTTAC
    DYNC1I2 Expression
    About this image


    DYNC1I2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud

    See DYNC1I2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DYNC1I2

    SOURCE GeneReport for Unigene cluster: Hs.546250
        SABiosciences Custom PCR Arrays for DYNC1I2
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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 animals.

    Orthologs for DYNC1I2 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dync1i21 , 5 dynein cytoplasmic 1 intermediate chain 21, 5 91.95(n)1
    97.96(a)1
      2 (42.38 cM)5
    134271  NM_001198873.11  NP_001185802.11 
     712117065 
    chicken
    (Gallus gallus)
    Aves DYNC1I21 dynein, cytoplasmic 1, intermediate chain 2 84.18(n)
    95.57(a)
      424151  NM_001006519.1  NP_001006519.1 
    lizard
    (Anolis carolinensis)
    Reptilia DYNC1I26
    Uncharacterized protein
    94(a)
    1 ↔ 1
    GL343353.1(722422-766496)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.7752 Xenopus laevis clone 2 cytoplasmic dynein intermediate more 81.63(n)    AF319781.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570827562   -- 72.78(n)    57082756 
    fruit fly
    (Drosophila melanogaster)
    Insecta sw1 short wing 53.2(n)
    53.87(a)
      44160  NM_057727.4  NP_477075.2 
    worm
    (Caenorhabditis elegans)
    Secernentea dyci-11 Protein DYCI-1 49.39(n)
    39.9(a)
      177440  NM_068637.2  NP_501038.1 


    ENSEMBL Gene Tree for DYNC1I2 (if available)
    TreeFam Gene Tree for DYNC1I2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DYNC1I2 gene
    DNAI22  DNAI12  DYNC1I12  WDR342  WDR782  
    3 SIMAP similar genes for DYNC1I2 using alignment to 15 protein entries:     DC1I2_HUMAN (see all proteins):
    DNCI2    DNCI1    DYNC1I1

    DYNC1I2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DYNC1I2
    PGOHUM00000238794


    (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

    10/1138 SNPs in DYNC1I2 are shown (see all 1138)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2004822781,2
    C--172541956(+) GAATC-/GGGGGG 4 -- us2k10--------
    rs1460445181,2
    --172541989(+) TAGTCC/TTTCTC 4 -- us2k10--------
    rs1399472051,2
    --172542012(+) AAAGGA/CCAGTC 4 -- us2k10--------
    rs1902966341,2
    --172542157(+) CTTAGC/TCTACG 4 -- us2k10--------
    rs1141227691,2
    C,F--172542221(+) TCCTTT/CGTCCA 7 -- us2k11Minor allele frequency- C:0.01NA 120
    rs20371641,2
    C,F,O,H--172542238(+) TTTCTC/TTTCCC 7 -- us2k1 trp312Minor allele frequency- T:0.18MN NS EA NA WA 1102
    rs1431794861,2
    --172542338(+) CAAAAC/GTTTCC 7 -- us2k10--------
    rs1511346501,2
    --172542489(+) GTAATA/GAGAAA 7 -- us2k10--------
    rs345398361,2
    C,F--172542624(+) TTTTC-/TTTTTT 7 -- us2k13Minor allele frequency- T:0.33NA CSA 6
    rs345421261,2
    C,F--172542705(+) ACCTCT/CGCCTC 7 -- us2k18Minor allele frequency- C:0.32NA CSA WA EA 368

    HapMap Linkage Disequilibrium report for DYNC1I2 (172543919 - 172604930 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DYNC1I2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv271088CNV Insertion20981092
    nsv834457CNV Loss17160897
    nsv522519CNV Loss19592680
    nsv511089CNV Complex20534489

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603331    OMIM disorders: --

    5 diseases for DYNC1I2:    About MalaCards
    leukorrhea    cardia cancer    beckwith-wiedemann syndrome    hypoxia
    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for DYNC1I2:
    Beckwith-Wiedemann syndrome     Leukorrhea

    DYNC1I2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for DYNC1I2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 19744529 (1)

    Genetic Association Database (GAD): DYNC1I2

    Export disorders for DYNC1I2 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 DYNC1I2 gene, integrated from 9 sources (see all 65):
    (articles sorted by number of sources associating them with DYNC1I2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. (PubMed id 10049579)1, 3, 9 Crackower M.A.... Tsui L.-C. (1999)
    2. Cytoplasmic dynein nomenclature. (PubMed id 16260502)1, 3 Pfister K.K....Vallee R.B. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. Cytoplasmic dynein binds dynactin through a direct interaction between the intermediate chains and p150Glued. (PubMed id 8522607)1, 2 Vaughan K.T. and Vallee R.B. (1995)
    6. Identification of DH IC-2 as a HIF-1 independent prot ein involved in the adaptive response to hypoxia in tumor cells: A putative rol e in metastasis. (PubMed id 19744529)1, 9 Pyr dit Ruys S....Michiels C. (2009)
    7. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 1781 HGNC: 2964 AceView: DNCI2 Ensembl:ENSG00000077380 euGenes: HUgn1781
    ECgene: DYNC1I2 Kegg: 1781 H-InvDB: DYNC1I2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DYNC1I2 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 DYNC1I2 gene:
    Search GeneIP for patents involving DYNC1I2

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



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