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

DNAI2 Gene

protein-coding   GIFtS: 55
GCID: GC17P072292

dynein, axonemal, intermediate chain 2

(Previous names: dynein, axonemal, intermediate polypeptide 2 )
 Explore 9 diseases affiliated with
DNAI2 via our new
 Human Malady Compendium 
Biological research products
for DNAI2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dynein, Axonemal, Intermediate Chain 21 2
CILD91 2 5
DIC21 2
Dynein, Axonemal, Intermediate Polypeptide 21 2
Dynein Intermediate Chain 2, Axonemal2
Axonemal Dynein Intermediate Chain 23

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

Entrez Gene summary for DNAI2:
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)

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

Gene Wiki entry for DNAI2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DNAI2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9GZS0

  • DNAI2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000461950   ENSP00000462767   ENSP00000308312   ENSP00000464197   ENSP00000400252  
     ENSP00000302929  

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    Uscn Proteins for DNAI2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005858axonemal dynein complex IMP11153919
    GO:0005874microtubule IEA--
    GO:0035085cilium axoneme IMP11153919


    DNAI2 for ontologies           About GeneDecksing



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

    DNAI2 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

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    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 IMP11153919
    GO:0005515protein binding ----


    DNAI2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.40
    2Cytoskeleton remodeling Neurofilaments
    Cytoplasmic microtubules0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DNAI2
        Cytoplasmic microtubules



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


    DNAI2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAI2

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

    5/35 Interacting proteins for DNAI2 (ENSP000003083124) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAH1ENSP000004015144STRING: ENSP00000401514
    DNAH17ENSP000003744904STRING: ENSP00000374490
    DNAH2ENSP000003738254STRING: ENSP00000373825
    DNAH3ENSP000002613834STRING: ENSP00000261383
    DNAH7ENSP000003112734STRING: ENSP00000311273
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042384cilium assembly IMP11153919


    DNAI2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNAI2
    Search CenterWatch for drugs/clinical trials and news about DNAI2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.92010245  DT.70102358  DT.97784257 

    23 AceView cDNA sequences:

    AF250288 BC033013 BC039582 BG723530 BM975749 NM_023036 CB306455 BM920884 
    BI825600 BI461946 BM564120 BU608924 BI489793 AI870459 AL137526 AJ295276 
    AI215420 BI464166 AW517074 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™, 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

    DNAI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DNAI2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAI2

    SOURCE GeneReport for Unigene cluster: Hs.147472

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

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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 DNAI2 gene from 4/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DNAI21 dynein, axonemal, intermediate chain 2 73.32(n)
    69.72(a)
      417453  XM_415701.2  XP_415701.2 
    lizard
    (Anolis carolinensis)
    Reptilia DNAI26
    --
    70(a)
    1 ↔ 1
    2(98258481-98278656)
    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
    55.88(n)1
    47.84(a)1
      68D23
    393181  NM_140240.21  NP_648497.21 


    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
    Paralogs for DNAI2 gene
    WDR632  DYNC1I12  WDR342  DNAI12  DYNC1I22  WDR782  
    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, UniProtKB, 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

    10/902 NCBI SNPs in DNAI2 are shown (see all 902    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs346284931,2
    C--67691957(+) AGTGC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs586344251,2
    C,F,--72268418(+) AGCCCG/TCGGCT 2 -- us2k17Minor allele frequency- T:0.44WA NA CSA EA 365
    rs782883501,2
    F,--72268638(+) TGTCCC/TGAGAA 2 -- us2k11Minor allele frequency- T:0.04NA 120
    rs1395514821,2
    --72268663(+) GAACGA/GATCAG 2 -- us2k10--------
    rs733586761,2
    C,--72268704(+) CTTGTC/ATTTGG 2 -- us2k12Minor allele frequency- A:0.08WA 120
    rs1930304671,2
    --72268808(+) AGAAGG/TTGGGA 2 -- us2k10--------
    rs129518621,2
    C,F,H,--72268866(+) AACCCG/ACTGAG 2 -- us2k119Minor allele frequency- A:0.11NS EA NA WA 2032
    rs1493262081,2
    --72268990(+) TCTCAA/GCCCCA 2 -- us2k10--------
    rs1445761701,2
    --72269077(+) CATGCC/TCTCCC 2 -- us2k10--------
    rs1400472501,2
    --72269157(+) CCCCAA/GTCCCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNAI2 (72270386 - 72311023 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for DNAI2
         6 CNVs: 34522 8852 53066 5336 5029 7171
         2 Indels: 25916 45588
    Human Gene Mutation Database (HGMD): DNAI2

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    (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

    DNAI2 for disorders           About GeneDecksing

    OMIM gene information: 605483   
    OMIM disorders: 612444  
    UniProtKB/Swiss-Prot: DNAI2_HUMAN, Q9GZS0
  • Defects in DNAI2 are the cause of primary ciliary dyskinesia type 9 (CILD9) [MIM:612444]. CILD is an autosomal
  • recessive disorder characterized by axonemal 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 situs inversus, due to
    dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary
    dyskinesia associated with situs inversus is referred to as Kartagener syndrome

    9 diseases for DNAI2:    About MalaCards
    ciliary dyskinesia, primary, 9, with our without situs inversus    ciliary dyskinesia    primary ciliary dyskinesia    situs inversus
    kartagener syndrome    bronchiectasis    down syndrome    huntington's disease
    malaria

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

    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

    PubMed articles for DNAI2 gene, integrated from 9 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. (2000)
    2. A unified taxonomy for ciliary dyneins. (PubMed id 21953912)1, 3 Hom E.F....King S.M. (2011)
    3. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. (PubMed id 18950741)1, 2 Loges N.T....Omran H. (2008)
    4. Whole genome association scan for genetic polymorphis ms influencing information processing speed. (PubMed id 21130836)1 Luciano M....Deary I.J. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (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. (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. (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. (2002)
    10. Primary Ciliary Dyskinesia (PubMed id 20301301)1 Zariwala M.A....Leigh M.W. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64446 HGNC: 18744 AceView: DNAI2 Ensembl:ENSG00000171595 euGenes: HUgn64446
    ECgene: DNAI2 Kegg: 64446 H-InvDB: DNAI2

    (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 DNAI2 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 DNAI2 gene:
    Search GeneIP for patents involving DNAI2

    GeneCards and IP:
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