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DYNC1I2 Gene

protein-coding   GIFtS: 61
GCID: GC02P172543

Dynein, Cytoplasmic 1, Intermediate Chain 2

(Previous names: dynein, cytoplasmic, intermediate polypeptide 2)
(Previous symbol: DNCI2)
  See DYNC1I2-related disease
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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include microtubule motor activity. An important paralog of this gene is DNAI1.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for DYNC1I2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: 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
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: 

  • The phosphorylation status of Ser-90 appears to be involved in dynactin-dependent target binding (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DYNC1I2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    DYNC1I2 Human Recombinant Protein Products:

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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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    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


    Find genes that share domains with DYNC1I2           About GenesLikeMe


    (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, 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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity NAS8522607
    GO:0005515protein binding ----
         
    Find genes that share ontologies with DYNC1I2           About GenesLikeMe


    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 

    Find genes that share phenotypes with DYNC1I2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DYNC1I2
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    miRNA
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    miRTarBase miRNAs that target DYNC1I2:
    hsa-mir-1301-3p (MIRT036037)

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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
    DC1I2_HUMAN, Q13409: Cytoplasm, cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with DYNC1I2           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 DYNC1I2 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90
    3Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of deltaF508 CFTR in CF0.59
    4Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    5Cytoplasmic microtubules
    Cytoplasmic microtubules0.32


    Find genes that share SuperPaths with DYNC1I2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    5 Reactome Pathways for DYNC1I2
        Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    MHC class II antigen presentation
    Loss of Nlp from mitotic centrosomes


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DYNC1I2
    Interactions:

        Search GeneGlobe Interaction Network for DYNC1I2

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

    Selected Interacting proteins for DYNC1I2 (Q134092, 3 ENSP000003803084) via UniProtKB, MINT, STRING, and/or I2D (see all 157)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYNLT3P518082, 3, ENSP000003678414MINT-66315 I2D: score=5 STRING: ENSP00000367841
    DCTN1Q142033, ENSP000003547914I2D: score=3 STRING: ENSP00000354791
    SRRM2Q9UQ353, ENSP000003017404I2D: score=1 STRING: ENSP00000301740
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    DYNLL1P631673, ENSP000002425774I2D: score=2 STRING: ENSP00000242577
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    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:0008152metabolic process NAS8522607

    Find genes that share ontologies with DYNC1I2           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 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,
    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 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
    Selected 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
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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 

    Selected 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 

    Selected AceView cDNA sequences (see all 409):

    AK055491 F31817 N29856 BP345879 BT007130 AL137519 BP356906 AI271864 
    AL551174 CB106676 BP380403 BP351879 BM462394 AI752126 F11114 AI077468 
    BM855159 AF250307 CA421039 BP359710 CD515046 AI884426 AI480156 N66500 

    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™, 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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    DYNC1I2 expression in normal human tissues (normalized intensities)
    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
     
     Limb (Muscoskeletal System)
             Limb Bud
    DYNC1I2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DYNC1I2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.546250
        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)
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    This gene was present in the common ancestor of animals.

    Orthologs for DYNC1I2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dync1i25 dynein cytoplasmic 1 intermediate chain 2   --   2 (42.38 cM) 71211706 
    chicken
    (Gallus gallus)
    Aves DYNC1I21 dynein, cytoplasmic 1, intermediate chain 2 83.96(n)
    95.07(a)
      424151  NM_001006519.1  NP_001006519.1 
    lizard
    (Anolis carolinensis)
    Reptilia DYNC1I26
    dynein, cytoplasmic 1, intermediate chain 2
    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 Sdic46
    Sdic26
    (see all 5)
    Sperm-specific dynein intermediate chain 2
    (see all 5)
    54(a)
    54(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    X(20091160-20096107)
    X(20076060-20080509)
    worm
    (Caenorhabditis elegans)
    Secernentea dyci-16
    Protein DYCI-1 (dyci-1) mRNA, complete cds
    35(a)
    1 → many
    IV(6779862-6784340) WBGene00015927


    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)
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    Paralogs for DYNC1I2 gene
    DNAI12  DYNC1I12  WDR342  WDR782  
    3 SIMAP similar genes for DYNC1I2 using alignment to 15 protein entries:     DC1I2_HUMAN (see all proteins):
    DNCI2    DNCI1    DYNC1I1

    Find genes that share paralogs with DYNC1I2           About GenesLikeMe


    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), 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 DYNC1I2 (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

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 603331    OMIM disorders: --

    1 disease for DYNC1I2:    
    About MalaCards
    leukorrhea

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

    Find genes that share disorders with DYNC1I2           About GenesLikeMe

    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)
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    PubMed articles for DYNC1I2 gene, integrated from 10 sources (see all 66):
    (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. (Genomics 1999)
    2. Cytoplasmic dynein nomenclature. (PubMed id 16260502)1, 3 Pfister K.K....Vallee R.B. (J. Cell Biol. 2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (J. Cell Biol. 1995)
    6. Identification of DH IC-2 as a HIF-1 independent protein involved in the adaptive response to hypoxia in tumor cells: A putative role in metastasis. (PubMed id 19744529)1, 9 Pyr dit Ruys S....Michiels C. (Biochim. Biophys. Acta 2009)
    7. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    9. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    10. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1781 HGNC: 2964 AceView: DNCI2 Ensembl:ENSG00000077380 euGenes: HUgn1781
    ECgene: DYNC1I2 Kegg: 1781 H-InvDB: DYNC1I2

    (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 DYNC1I2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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