Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



DNAI2 Gene

protein-coding   GIFtS: 56
GCID: GC17P072292

Dynein, Axonemal, Intermediate Chain 2

(Previous names: dynein, axonemal, intermediate polypeptide 2)
  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

TryGeneCards Plus

Aliases
Dynein, Axonemal, Intermediate Chain 21 2     DIC22
Dynein, Axonemal, Intermediate Polypeptide 21 2     Dynein Intermediate Chain 2, Axonemal2
CILD92 5     Axonemal Dynein Intermediate Chain 23
Dynein Intermediate Chain 21     

External Ids:    HGNC: 187441   Entrez Gene: 644462   Ensembl: ENSG000001715957   OMIM: 6054835   UniProtKB: Q9GZS03   

Export aliases for DNAI2 gene to outside databases

Previous GC identifers: GC17P075328 GC17P072734 GC17P072867 GC17P069782 GC17P067680


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

TryGeneCards Plus

Entrez Gene summary for DNAI2 Gene:
The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein
complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary
dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this
gene. (provided by RefSeq, Mar 2010)

GeneCards Summary for DNAI2 Gene:
DNAI2 (dynein, axonemal, intermediate chain 2) is a protein-coding gene. Diseases associated with DNAI2 include ciliary dyskinesia, primary, 9, with or without situs inversus, and primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia. GO annotations related to this gene include microtubule motor activity. An important paralog of this gene is WDR63.

UniProtKB/Swiss-Prot: DNAI2_HUMAN, Q9GZS0
Function: Part of the dynein complex of respiratory cilia

Gene Wiki entry for DNAI2 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNAI2 gene promoter:
         HEN1   C/EBPbeta   RP58   POU2F1   POU2F1a   Nkx2-2   STAT3   Nkx2-5   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAI2 promoter sequence
   Search Chromatin IP Primers for DNAI2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAI2


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

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25

DNAI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAI2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P072292:  view genomic region     (about GC identifiers)

Start:
72,270,386 bp from pter      End:
72,311,023 bp from pter
Size:
40,638 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: DNAI2_HUMAN, Q9GZS0 (See protein sequence)
Recommended Name: Dynein intermediate chain 2, axonemal  
Size: 605 amino acids; 68821 Da
Subunit: Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with
DNAAF2 (By similarity)
Sequence caution: Sequence=CAB70790.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: C9J0S6 Q8IUW4 Q9H179 Q9NT53
Alternative splicing: 2 isoforms:  Q9GZS0-1   Q9GZS0-2   

Explore the universe of human proteins at neXtProt for DNAI2: NX_Q9GZS0

Explore proteomics data for DNAI2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DNAI2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001166281.1  NP_075462.3  

    ENSEMBL proteins: 
     ENSP00000461950   ENSP00000462767   ENSP00000308312   ENSP00000464197   ENSP00000400252  
     ENSP00000302929  

    DNAI2 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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for DNAI2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DNAI2
    GenScript Custom Purified and Recombinant Proteins Services for DNAI2
    Novus Biologicals DNAI2 Protein
    Novus Biologicals DNAI2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DNAI2

    DNAI2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for DNAI2
    OriGene Custom Antibody Services for DNAI2
    Novus Biologicals DNAI2 Antibodies
    Abcam antibodies for DNAI2
    Cloud-Clone Corp. Antibodies for DNAI2
    ThermoFisher Antibodies for DNAI2
    LSBio Antibodies in human, mouse, rat for DNAI2

    DNAI2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DNAI2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DNAI2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DNAI2
    Cloud-Clone Corp. CLIAs for DNAI2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    DN: Axonemal dyneins
    WDR: WD repeat domain containing

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9GZS0

    ProtoNet protein and cluster: Q9GZS0

    UniProtKB/Swiss-Prot: DNAI2_HUMAN, Q9GZS0
    Similarity: Belongs to the dynein intermediate chain family
    Similarity: Contains 5 WD repeats


    DNAI2 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DNAI2_HUMAN, Q9GZS0
    Function: Part of the dynein complex of respiratory cilia

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity IMP11153919
    GO:0005515protein binding ----
         
    DNAI2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNAI2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DNAI2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNAI2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNAI2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat DNAI2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DNAI2
    SwitchGear 3'UTR luciferase reporter plasmidDNAI2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DNAI2
    Predesigned siRNA for gene silencing in human, mouse, rat DNAI2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DNAI2

    Clone
    Products:
         
    OriGene clones in human, mouse for DNAI2 (see all 9)
    OriGene ORF clones in mouse, rat for DNAI2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DNAI2 (NM_023036)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAI2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DNAI2
    Browse ESI BIO Cell Lines and PureStem Progenitors for DNAI2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAI2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    DNAI2_HUMAN, Q9GZS0: Cytoplasm, cytoskeleton, cilium axoneme (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005858axonemal dynein complex IMP11153919
    GO:0005874microtubule IEA--
    GO:0005930axoneme IMP11153919

    DNAI2 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for DNAI2 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.45
    2Cytoplasmic microtubules
    Cytoplasmic microtubules0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for DNAI2):
        Huntington's disease


    DNAI2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNAI2
    Interactions:

        Search GeneGlobe Interaction Network for DNAI2

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

    Selected Interacting proteins for DNAI2 (ENSP000003083124) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAH1ENSP000004015144STRING: ENSP00000401514
    DNAH17ENSP000003744904STRING: ENSP00000374490
    DNAH2ENSP000003738254STRING: ENSP00000373825
    DNAH3ENSP000002613834STRING: ENSP00000261383
    DNAH7ENSP000003112734STRING: ENSP00000311273
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process IMP11153919
    GO:0042384cilium assembly IMP11153919

    DNAI2 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DNAI2



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for DNAI2 gene (2 alternative transcripts): 
    NM_001172810.1  NM_023036.4  

    Unigene Cluster for DNAI2:

    Dynein, axonemal, intermediate chain 2
    Hs.147472  [show with all ESTs]
    Unigene Representative Sequence: AJ295276
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582036(uc002jkg.3 uc002jkf.3) ENST00000579055(uc010dfp.3)
    ENST00000311014(uc002jki.3) ENST00000579490 ENST00000579312 ENST00000446837
    ENST00000307504
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DNAI2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DNAI2
    SwitchGear 3'UTR luciferase reporter plasmidDNAI2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DNAI2
    Predesigned siRNA for gene silencing in human, mouse, rat DNAI2
    Clone
    Products:
         
    OriGene clones in human, mouse for DNAI2 (see all 9)
    OriGene ORF clones in mouse, rat for DNAI2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DNAI2 (NM_023036)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAI2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DNAI2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNAI2
      QuantiTect SYBR Green Assays in human, mouse, rat DNAI2
      QuantiFast Probe-based Assays in human, mouse, rat DNAI2

    Additional mRNA sequence: 

    AF250288.1 AJ295276.1 AL137526.1 BC033013.1 BC039582.1 

    3 DOTS entries:

    DT.92010245  DT.70102358  DT.97784257 

    23 AceView cDNA sequences:

    BC039582 AF250288 BC033013 NM_023036 BI489793 BM920884 BG723530 AI870459 
    CB306455 BI825600 AL137526 BU608924 BM975749 BM564120 AJ295276 BI461946 
    BI464166 AW517074 AI215420 BI767964 BI462861 BI490762 BF871190 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DNAI2    About this scheme

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


    ECgene alternative splicing isoforms for DNAI2

    (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)
    About This Section

    TryGeneCards Plus

    DNAI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DNAI2 Expression
    About this image


    DNAI2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Lateral Ventricle
     
     Testis (Reproductive System)
    DNAI2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNAI2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.147472

    UniProtKB/Swiss-Prot: DNAI2_HUMAN, Q9GZS0
    Tissue specificity: Highly expressed in trachea and testis

        Custom PCR Arrays for DNAI2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DNAI2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNAI2
    QuantiTect SYBR Green Assays in human, mouse, rat DNAI2
    QuantiFast Probe-based Assays in human, mouse, rat DNAI2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAI2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for DNAI2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnaic21 , 5 dynein, axonemal, intermediate chain 21, 5 85.06(n)1
    87.37(a)1
      11 (80.19 cM)5
    4326111  NM_001034878.21  NP_001030050.21 
     1147274085 
    chicken
    (Gallus gallus)
    Aves DNAI21 dynein, axonemal, intermediate chain 2 74.91(n)
    71.89(a)
      417453  XM_415701.3  XP_415701.2 
    lizard
    (Anolis carolinensis)
    Reptilia DNAI26
    dynein, axonemal, intermediate chain 2
    71(a)
    1 ↔ 1
    2(98254488-98281154)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dnai21 dynein, axonemal, intermediate chain 2 70.1(n)
    74.6(a)
      100495747  XM_002935383.2  XP_002935429.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.175552 Transcribed sequence with weak similarity to protein more 74.1(n)    BM775500.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60531 , 3 microtubule-based movement dynein
    ATPase3
    CG60531
    47(a)
    (best of 3)3
    55.82(n)1
    47.66(a)1
      68D23
    393181  NM_001274794.11  NP_001261723.11 


    ENSEMBL Gene Tree for DNAI2 (if available)
    TreeFam Gene Tree for DNAI2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for DNAI2 gene
    WDR632  
    2 SIMAP similar genes for DNAI2 using alignment to 4 protein entries:     DNAI2_HUMAN (see all proteins):
    DNAI1    WDR63

    DNAI2 for paralogs           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for DNAI2 (see all 1162)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1394665451,2
    C--72272283(+) CACAC-/TTTCCC 2 -- int10--------
    rs713616091,2
    C--72273524(+) ATCTC-/A/AA  
            
    AAAAA
    2 -- int11NA 2
    rs357859921,2
    C--72278452(+) TTTTTT/-AAACA 2 -- int11Minor allele frequency- -:0.00NA 2
    rs3723898171,2
    C--72280361(+) TCTCT-/AAAAAA 2 -- int10--------
    rs578228421,2
    C--72282110(+) ATATA-/AG    
       
    /TATA
    GAGAG
    2 -- int11CSA 2
    rs353021281,2
    C--72284093(+) GTCTC-/AAAAAA 2 -- int10--------
    rs572414281,2
    C--72284108(+) AAAAA-/A/AA  
            
    GCAGT
    2 -- int10--------
    rs723282711,2
    C--72286827(+) CCGGC-/AGAGAGT 2 -- int10--------
    rs713616131,2
    C--72288007(+) TTTTTT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs1427781941,2
    C--72288555(+) TTTTC-/TTTTTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for DNAI2 (72270386 - 72311023 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DNAI2 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1978492CNV Deletion18987734
    dgv468e201CNV Deletion23290073
    esv2716213CNV Deletion23290073
    esv1307217CNV Deletion17803354
    dgv12e196CNV Duplication17116639
    nsv509673CNV Insertion20534489
    esv33995CNV Loss17666407
    nsv833539CNV Loss17160897
    esv2751770CNV Gain17911159
    nsv833538CNV Gain17160897

    Human Gene Mutation Database (HGMD): DNAI2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNAI2
    DNA2.0 Custom Variant and Variant Library Synthesis for DNAI2

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 605483   
    OMIM disorders: 612444  
    UniProtKB/Swiss-Prot: DNAI2_HUMAN, Q9GZS0
  • Ciliary dyskinesia, primary, 9 (CILD9) [MIM:612444]: A disorder characterized by abnormalities of motile
    cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in
    the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails.
    Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of
    monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as
    Kartagener syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for DNAI2:    
    About MalaCards
    ciliary dyskinesia, primary, 9, with or without situs inversus    primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia    situs inversus    primary ciliary dyskinesia
    kartagener syndrome    ciliary dyskinesia, primary, 19    bronchiectasis    down syndrome
    huntington's disease    multiple myeloma    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for DNAI2:
    Primary ciliary dyskinesia     Situs inversus

    DNAI2 for disorders           About GeneDecksing

    GeneTests: DNAI2
    GeneReviews: DNAI2
    Genetic Association Database (GAD): DNAI2
    Human Genome Epidemiology (HuGE) Navigator: DNAI2 (1 document)

    Export disorders for DNAI2 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

    TryGeneCards Plus

    PubMed articles for DNAI2 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with DNAI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia. (PubMed id 11153919)1, 2, 3, 9 Pennarun G.... Duriez B. (Hum. Genet. 2000)
    2. A unified taxonomy for ciliary dyneins. (PubMed id 21953912)1, 3 Hom E.F....King S.M. (Cytoskeleton (Hoboken) 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. (PubMed id 18950741)1, 2 Loges N.T....Omran H. (Am. J. Hum. Genet. 2008)
    5. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PubMed id 21130836)1 Luciano M....Deary I.J. (Biol Psychol 2011)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Primary Ciliary Dyskinesia (PubMed id 20301301)1 Pagon R.A....Stephens K. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 64446 HGNC: 18744 AceView: DNAI2 Ensembl:ENSG00000171595 euGenes: HUgn64446
    ECgene: DNAI2 Kegg: 64446 H-InvDB: DNAI2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for DNAI2 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for DNAI2 gene:
    Search GeneIP for patents involving DNAI2

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for DNAI2   OriGene RNAi products in human, mouse, rat for DNAI2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for DNAI2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for DNAI2  
     OriGene qSTAR qPCR primer pairs in human, mouse for DNAI2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for DNAI2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DNAI2   OriGene Custom Protein Services for DNAI2  

     
     
     Block miRNA regulation of human, mouse, rat DNAI2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DNAI2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAI2 Predesigned siRNA for gene silencing in human, mouse, rat DNAI2
     QuantiFast Probe-based Assays in human, mouse, rat DNAI2 QuantiTect SYBR Green Assays in human, mouse, rat DNAI2
     Custom PCR Arrays for DNAI2 Search Chromatin IP Primers for DNAI2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNAI2  Search GeneGlobe Interaction Network for DNAI2
     Regulatory tfbs in DNAI2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for DNAI2 GenScript cDNA clones with any tag delivered in your preferred vector for DNAI2
     GenScript Custom Assay Services for DNAI2 GenScript Custom overexpressing Cell Line Services for DNAI2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for DNAI2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DNAI2 antibodies
     DNAI2 proteins
     DNAI2 lysates
     Antibodies for DNAI2
     See all of Abcam's Antibodies, Kits and Proteins for DNAI2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for DNAI2
     Antibodies for DNAI2
     ELISAs for DNAI2
     CLIAs for DNAI2



     Browse ESI BIO Cell Lines and PureStem Progenitors for DNAI2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAI2
     SwitchGear 3'UTR luciferase reporter plasmids for DNAI2
     SwitchGear Promoter luciferase reporter plasmids for DNAI2
     ThermoFisher Antibodies for DNAI2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAI2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNAI2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DNAI2
     LSBio Antibodies in human, mouse, rat for DNAI2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DNAI2 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4