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DNAH2 Gene

protein-coding   GIFtS: 49
GCID: GC17P007623

Dynein, Axonemal, Heavy Chain 2

(Previous names: dynein, axonemal, heavy polypeptide 2, dynein heavy chain...)
(Previous symbol: DNHD3)
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(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, Axonemal, Heavy Chain 21 2     Ciliary Dynein Heavy Chain 22 3
DNHD31 2 3     Dynein Heavy Chain Domain-Containing Protein 32 3
DNAHC22 3 5     Dynein Heavy Chain 2, Axonemal2
Dynein Heavy Chain Domain 31 2     Dynein, Axonemal, Heavy Chain-22
Dynein, Axonemal, Heavy Polypeptide 21 2     KIAA15033
Axonemal Beta Dynein Heavy Chain 22 3     

External Ids:    HGNC: 29481   Entrez Gene: 1467542   Ensembl: ENSG000001839147   OMIM: 6033335   UniProtKB: Q9P2253   

Export aliases for DNAH2 gene to outside databases

Previous GC identifers: GC17M008184 GC17M008551 GC17P007624 GC02P084826 GC17P007864 GC17P007604 GC17U900597 GC17P007565 GC17P007518


(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 DNAH2 Gene:
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate
chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms
attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et
al., 1997 (PubMed 9256245)).(supplied by OMIM, Mar 2008)

GeneCards Summary for DNAH2 Gene:
DNAH2 (dynein, axonemal, heavy chain 2) is a protein-coding gene. GO annotations related to this gene include microtubule motor activity and ATPase activity. An important paralog of this gene is DNAH5.

UniProtKB/Swiss-Prot: DYH2_HUMAN, Q9P225
Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.
Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in
sperm motility; implicated in sperm flagellar assembly (By similarity)




(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_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNAH2 gene promoter:
         E2F-3a   E2F-4   E2F-5   C/EBPbeta   Sp1   E2F-2   E2F   E2F-1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAH2 promoter sequence
   Search Chromatin IP Primers for DNAH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAH2


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

DNAH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAH2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007623:  view genomic region     (about GC identifiers)

Start:
7,620,672 bp from pter      End:
7,737,062 bp from pter
Size:
116,391 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: DYH2_HUMAN, Q9P225 (See protein sequence)
Recommended Name: Dynein heavy chain 2, axonemal  
Size: 4427 amino acids; 507698 Da
Subunit: Consists of at least two heavy chains and a number of intermediate and light chains
Rna editing: Modified_positions=Not_applicable; Note=Exon 13 included in isoform 3 is extensively edited in brain
Sequence caution: Sequence=AK128517; Type=Frameshift; Positions=3963; Sequence=BAA96027.2; Type=Erroneous
initiation;
Secondary accessions: A8K992 B5MDX5 O15434 Q6PIH3 Q6ZR42
Alternative splicing: 3 isoforms:  Q9P225-1   Q9P225-2   Q9P225-3   (Variant in position: 812:E->G (in RNA edited version). Variant in position: 814:E->G (in RNA edited version). Variant in position: 826:T->A (in RNA edited version). Variant in position: 833:N->D (in RNA edited version). Variant in position: 838:K->E (in RNA edited version). Variant in position: 839:N->D (in RNA edited version). Variant in position: 841:K->E (in RNA edited version). Variant in position: 843:S->G (in RNA edited version). Variant in position: 855:T->A (in RNA edited version). Variant in position: 865:E->G (in RNA edited version). Variant in position: 869:Q->R (in RNA edited version). Variant in position: 872:Q->R (in RNA edited version))

Explore the universe of human proteins at neXtProt for DNAH2: NX_Q9P225

Explore proteomics data for DNAH2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DNAH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065928.2  
    ENSEMBL proteins: 
     ENSP00000458355   ENSP00000460245   ENSP00000461273   ENSP00000461726   ENSP00000373825  
     ENSP00000082259  

    DNAH2 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for DNAH2

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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:
    DN: Axonemal dyneins

    Selected InterPro protein domains (see all 10):
     IPR004273 Dynein_heavy_dom
     IPR026976 DNAH2
     IPR024317 Dynein_heavy_chain_D4_dom
     IPR024743 Dynein_HC_stalk
     IPR011704 ATPase_dyneun-rel_AAA

    Graphical View of Domain Structure for InterPro Entry Q9P225

    ProtoNet protein and cluster: Q9P225

    3 Blocks protein domains:
    IPB004273 Dynein heavy chain
    IPB011704 ATPase associated with various cellular activities
    IPB013594 Dynein heavy chain


    UniProtKB/Swiss-Prot: DYH2_HUMAN, Q9P225
    Domain: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other
    dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head,
    which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and
    AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not
    clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two
    non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes
    ATP, the others may serve a regulatory function (By similarity)
    Similarity: Belongs to the dynein heavy chain family
    Similarity: Contains 5 TPR repeats


    Find genes that share domains with DNAH2           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: DYH2_HUMAN, Q9P225
    Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.
    Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in
    sperm motility; implicated in sperm flagellar assembly (By similarity)

         Genatlas biochemistry entry for DNAH2:
    dynein,axonemal,motor protein interacting with microtubules,heavy chain 2,inner arm,primarily expressed in trachea
    and testis,involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic
    spindle apparatus,with ATPase activity

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003777microtubule motor activity NAS9256245
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    Find genes that share ontologies with DNAH2           About GenesLikeMe


    Animal Models:
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    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate DNAH2:
    hsa-miR-513c hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmidDNAH2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DNAH2
    Predesigned siRNA for gene silencing in human, mouse, rat DNAH2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: DNAH2 (NM_020877)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAH2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH2

    Cell Line
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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
    DYH2_HUMAN, Q9P225: Cytoplasm, cytoskeleton, cilium axoneme (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane3
    cytosol1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005858axonemal dynein complex NAS9256245
    GO:0005874microtubule IEA--
    GO:0030286dynein complex ----

    Find genes that share ontologies with DNAH2           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 DNAH2 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


    Find genes that share SuperPaths with DNAH2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for DNAH2):
        Huntington's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNAH2
    Interactions:

        Search GeneGlobe Interaction Network for DNAH2

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

    Selected Interacting proteins for DNAH2 (Q9P2253 ENSP000003738254) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    DNAH1ENSP000004015144STRING: ENSP00000401514
    DNAH17ENSP000003744904STRING: ENSP00000374490
    DNAH3ENSP000002613834STRING: ENSP00000261383
    DNAH7ENSP000003112734STRING: ENSP00000311273
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539cilium or flagellum-dependent cell motility NAS9256245
    GO:0007018microtubule-based movement IEA--
    GO:0008152metabolic process NAS9256245

    Find genes that share ontologies with DNAH2           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 DNAH2 (DYH2)



    (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 DNAH2 gene: 
    NM_020877.2  

    Unigene Cluster for DNAH2:

    Dynein, axonemal, heavy chain 2
    Hs.367649  [show with all ESTs]
    Unigene Representative Sequence: AB040936
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000572933 ENST00000570791(uc002git.3 uc010vuk.2) ENST00000575498
    ENST00000574518 ENST00000575105 ENST00000389173(uc002giu.1 uc010cnm.1)
    ENST00000082259
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DNAH2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate DNAH2:
    hsa-miR-513c hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmidDNAH2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DNAH2
    Predesigned siRNA for gene silencing in human, mouse, rat DNAH2
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    GenScript: all cDNA clones in your preferred vector: DNAH2 (NM_020877)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DNAH2
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      QuantiFast Probe-based Assays in human, mouse, rat DNAH2

    Additional mRNA sequence: 

    AB040936.2 AK128517.1 AK292607.1 BC034225.1 BX648163.1 

    7 DOTS entries:

    DT.92010264  DT.100661399  DT.91754032  DT.97836263  DT.101977510  DT.87014376  DT.99998881 

    1 AceView cDNA sequence:

    BX648163 

    GeneLoc Exon Structure


    (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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    DNAH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DNAH2 Expression
    About this image


    DNAH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
             Metencephalon
     
     Ovary (Reproductive System)
             Mature follicles
    DNAH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNAH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.367649

    UniProtKB/Swiss-Prot: DYH2_HUMAN, Q9P225
    Tissue specificity: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also
    expressed in lung

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH2

    (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 DNAH2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnahc25
    Dnah21
    dynein, axonemal, heavy chain 21, 5 86.43(n)1
    91.18(a)1
      11 (42.63 cM)5
    3279541  NM_001081330.11  NP_001074799.11 
     694208095 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    36(a)
    many ↔ many
    12(8637492-8701433)
    lizard
    (Anolis carolinensis)
    Reptilia DNAH26
    dynein, axonemal, heavy chain 2
    75(a)
    1 ↔ 1
    GL343655.1(9972-136016)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dnah21 dynein, axonemal, heavy chain 2 70.71(n)
    73.52(a)
      100170584  XM_004919725.1  XP_004919782.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5560231 dynein heavy chain 2, axonemal-like 67.84(n)
    69.77(a)
      556023  XM_001919712.4  XP_001919747.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta kl-21 male fertility factor kl2 30.26(n)
    12.2(a)
      3355181  NM_001015505.3  NP_001015505.3 


    ENSEMBL Gene Tree for DNAH2 (if available)
    TreeFam Gene Tree for DNAH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNAH2 gene
    DNAH52  DYNC1H12  DNAH82  DYNC2H12  DNAH92  DNAH32  DNAH112  DNAH72  
    DNAH62  DNAH12  DNAH102  DNAH172  
    17 SIMAP similar genes for DNAH2 using alignment to 4 protein entries:     DYH2_HUMAN (see all proteins):
    Dnahc11    Dnahc9    Dnahc3    Dnchc1    DNAH14    DNAH5
    DNAH1    DNAH12    DNAH7    DNAH6    DNAH3    DNAH11
    DNAH10    DYNC2H1    DNAH17    DNAH9    DNAH8

    Find genes that share paralogs with DNAH2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for DNAH2
    PGOHUM00000242883


    (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 DNAH2 (see all 3073)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1471856321,2
    Cuntested17679368(+) CAGACC/TATGAG 2 T syn10--------
    rs713879911,2
    C--7615705(+) CCGGCTTT/-TTTTT 1 -- cds11Minor allele frequency- -:0.50NA 2
    rs1467383051,2
    C--7621304(+) AGGGG-/CAGTTG
    TGACAGCT
    GGGGG
    1 -- us2k10--------
    rs38038021,2
    C,F,A,H--7621464(+) TAGTAA/CTAGAG 1 -- us2k1 ese327Minor allele frequency- N:0.00EA NA NS WA CSA 2529
    rs73595241,2
    C,F,H--7621528(+) GTGGTG/AAACCC 1 -- us2k1 ese36Minor allele frequency- A:0.09EA NS NA WA 510
    rs580490671,2
    C,F--7621561(+) CTAGTT/CTGAGG 1 -- us2k17Minor allele frequency- C:0.24WA NA EA 366
    rs1837400671,2
    --7621606(+) GATGGA/GGGAAG 1 -- us2k10--------
    rs15447241,2
    C,F,A,H--7621777(+) CAGCCG/TAATGA 1 -- us2k1 ese328Minor allele frequency- T:0.48NS EA NA MN WA 3658
    rs72098221,2
    C,H--7621817(+) CGCCTG/AGGATT 1 -- us2k19Minor allele frequency- A:0.00NS EA MN 792
    rs352231711,2
    F--7621834(+) ACCTGT/ACCGAG 1 -- us2k15Minor allele frequency- A:0.01MN 408

    HapMap Linkage Disequilibrium report for DNAH2 (7620672 - 7737062 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for DNAH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715603CNV Deletion23290073
    esv2715602CNV Deletion23290073
    esv2662285CNV Deletion23128226
    esv2520895CNV Deletion19546169
    nsv907653CNV Loss21882294
    nsv833351CNV Loss17160897
    nsv518326CNV Gain19592680

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603333    OMIM disorders: --


    Find genes that share disorders with DNAH2           About GenesLikeMe

    Genetic Association Database (GAD): DNAH2

    Export disorders for DNAH2 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 DNAH2 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with DNAH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. (PubMed id 9256245)1, 2, 3 Chapelin C....Amselem S. (FEBS Lett. 1997)
    2. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (PubMed id 19430480)1, 4 Barrett J.C....Rich S.S. (Nat. Genet. 2009)
    3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. Identification of proteins associated with ligand-activated estrogen receptor I+ in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (Proteomics 2011)
    6. Inosine cyanoethylation identifies A-to-I RNA editing sites in the human transcriptome. (PubMed id 20835228)2 Sakurai M.... Suzuki T. (Nat. Chem. Biol. 2010)
    7. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    8. 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)
    9. 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)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 146754 HGNC: 2948 AceView: FLJ46675.2 Ensembl:ENSG00000183914 euGenes: HUgn146754
    ECgene: DNAH2 Kegg: 146754 H-InvDB: DNAH2

    (According to HUGE)
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    HUGE: KIAA1503

    (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 DNAH2 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 DNAH2 gene:
    Search GeneIP for patents involving DNAH2

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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