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DNAH5 Gene

protein-coding   GIFtS: 57
GCID: GC05M013745

Dynein, Axonemal, Heavy Chain 5

(Previous names: dynein, axonemal, heavy polypeptide 5)
  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)
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Aliases
Dynein, Axonemal, Heavy Chain 51 2     CILD32 5
HL12 3 5     PCD2 5
Dynein, Axonemal, Heavy Polypeptide 51 2     Dynein Heavy Chain 51
Axonemal Beta Dynein Heavy Chain 52 3     KTGNR2
Ciliary Dynein Heavy Chain 52 3     Dynein Heavy Chain 5, Axonemal2
DNAHC52 3     KIAA16033

External Ids:    HGNC: 29501   Entrez Gene: 17672   Ensembl: ENSG000000391397   OMIM: 6033355   UniProtKB: Q8TE733   

Export aliases for DNAH5 gene to outside databases

Previous GC identifers: GC05M013686 GC05M013971 GC05M013743 GC05M013744


(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 DNAH5 Gene:
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of
heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a
force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the
force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as
Kartagener syndrome, which are both diseases due to ciliary defects. (provided by RefSeq, Oct 2009)

GeneCards Summary for DNAH5 Gene:
DNAH5 (dynein, axonemal, heavy chain 5) is a protein-coding gene. Diseases associated with DNAH5 include secondary ciliary dyskinesia, and ciliary dyskinesia, primary, 3, with or without situs inversus. GO annotations related to this gene include microtubule motor activity and ATPase activity. An important paralog of this gene is DNAH2.

UniProtKB/Swiss-Prot: DYH5_HUMAN, Q8TE73
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. Required for
structural and functional integrity of the cilia of ependymal cells lining the brain ventricles

Gene Wiki entry for DNAH5 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:
NC_000005.10  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNAH5 gene promoter:
         HFH-3   Lmo2   HSF1 (long)   MyoD   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   FOXI1   Cart-1   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAH5 promoter sequence
   Search Chromatin IP Primers for DNAH5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAH5


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

Entrez Gene cytogenetic band: 5p15.2   Ensembl cytogenetic band:  5p15.2   HGNC cytogenetic band: 5p15.2

DNAH5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAH5 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M013745:  view genomic region     (about GC identifiers)

Start:
13,690,437 bp from pter      End:
13,944,652 bp from pter
Size:
254,216 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DYH5_HUMAN, Q8TE73 (See protein sequence)
Recommended Name: Dynein heavy chain 5, axonemal  
Size: 4624 amino acids; 529021 Da
Subunit: Consists of at least two heavy chains and a number of intermediate and light chains
Sequence caution: Sequence=BAB15543.1; Type=Erroneous initiation;
Secondary accessions: Q92860 Q96L74 Q9H5S7 Q9HCG9

Explore the universe of human proteins at neXtProt for DNAH5: NX_Q8TE73

Explore proteomics data for DNAH5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DNAH5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001360.1  
    ENSEMBL proteins: 
     ENSP00000265104  

    DNAH5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for DNAH5


    (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 9):
     IPR004273 Dynein_heavy_dom
     IPR024317 Dynein_heavy_chain_D4_dom
     IPR024743 Dynein_HC_stalk
     IPR011704 ATPase_dyneun-rel_AAA
     IPR013602 Dynein_heavy_dom-2

    Graphical View of Domain Structure for InterPro Entry Q8TE73

    ProtoNet protein and cluster: Q8TE73

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


    UniProtKB/Swiss-Prot: DYH5_HUMAN, Q8TE73
    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
    Similarity: Belongs to the dynein heavy chain family


    DNAH5 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYH5_HUMAN, Q8TE73
    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. Required for
    structural and functional integrity of the cilia of ependymal cells lining the brain ventricles

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003777microtubule motor activity NAS8812413
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    DNAH5 for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Dnahc5):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  immune system  liver/biliary system  mortality/aging 
     nervous system  renal/urinary system  respiratory system  skeleton 

    DNAH5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNAH5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNAH5
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    miRNA
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    miRTarBase miRNAs that target DNAH5:
    hsa-mir-124-3p (MIRT022734)

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    Selected qRT-PCR Assays for microRNAs that regulate DNAH5 (see all 9):
    hsa-miR-647 hsa-miR-3065-5p hsa-miR-138-2* hsa-miR-192 hsa-miR-1305 hsa-miR-377 hsa-miR-215 hsa-miR-497*
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    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH5

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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
    DYH5_HUMAN, Q8TE73: Cytoplasm, cytoskeleton, cilium axoneme
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    mitochondrion2
    cytosol1
    endosome1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005858axonemal dynein complex IEA--
    GO:0005874microtubule IEA--
    GO:0030286dynein complex ----

    DNAH5 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).
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    SuperPaths for DNAH5 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytoplasmic microtubules
    Cytoplasmic microtubules0.32



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNAH5
    Interactions:

        Search GeneGlobe Interaction Network for DNAH5

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

    Selected Interacting proteins for DNAH5 (Q8TE733 ENSP000002651044) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF4A2Q142403, ENSP000003263814I2D: score=1 STRING: ENSP00000326381
    BAZ1BQ9UIG03I2D: score=1 
    DCTN1ENSP000003547914STRING: ENSP00000354791
    DCTN2ENSP000004089104STRING: ENSP00000408910
    DNAH1ENSP000004015144STRING: ENSP00000401514
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539cilium or flagellum-dependent cell motility IEA--
    GO:0007018microtubule-based movement IEA--
    GO:0008150biological_process ND--
    GO:0008152metabolic process NAS8812413

    DNAH5 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)
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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 DNAH5 (DYH5)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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 )
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    REFSEQ mRNAs for DNAH5 gene: 
    NM_001369.2  

    Unigene Cluster for DNAH5:

    Dynein, axonemal, heavy chain 5
    Hs.212360  [show with all ESTs]
    Unigene Representative Sequence: NM_001369
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265104(uc003jfc.2 uc003jfd.2) ENST00000504001 ENST00000512443
    ENST00000508040(uc003jfe.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat DNAH5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DNAH5 (see all 9):
    hsa-miR-647 hsa-miR-3065-5p hsa-miR-138-2* hsa-miR-192 hsa-miR-1305 hsa-miR-377 hsa-miR-215 hsa-miR-497*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiFast Probe-based Assays in human, mouse, rat DNAH5

    Additional mRNA sequence: 

    AB046823.2 AB290164.1 AK026756.1 AK055138.1 AK128600.1 AY045575.1 AY049075.1 AY050643.1 
    U61735.1 

    4 DOTS entries:

    DT.70103738  DT.75192108  DT.100723721  DT.120854972 

    Selected AceView cDNA sequences (see all 48):

    CA311075 AY045575 BM021539 CA314998 AB046823 AI732987 NM_001369 AA864968 
    BM982841 AI902186 AK055138 BU675639 CA441409 AX800026 AI791381 BX492099 
    BE787608 BV192717 AY050643 BM021257 CA423035 BI438219 CD104059 AK128600 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DNAH5    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:        -                                                                       -                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60a · 60b ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^ 71 ^ 72 ^ 73 ^ 74 ^ 75 ^ 76 ^ 77 ^
    SP1:                                            -                                                                                                               
    SP2:                                                                                                  -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 78 ^ 79 ^ 80 ^ 81a ·
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        


    ECgene alternative splicing isoforms for DNAH5

    (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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    DNAH5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGGTTGTAT
    DNAH5 Expression
    About this image


    DNAH5 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
     
     Ovary (Reproductive System)
             Oviduct
     
     Kidney (Urinary System)
    DNAH5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNAH5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.212360
        Custom PCR Arrays for DNAH5
    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH5

    (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 DNAH5 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnahc55
    Dnah51
    dynein, axonemal, heavy chain 51, 5 85.51(n)1
    89.68(a)1
      15 (10.90 cM)5
    1100821  NM_133365.31  NP_579943.31 
     282037525 
    chicken
    (Gallus gallus)
    Aves DNAH51 dynein, axonemal, heavy chain 5 74.46(n)
    78.64(a)
      420921  XM_419006.4  XP_419006.3 
    lizard
    (Anolis carolinensis)
    Reptilia DNAH56
    dynein, axonemal, heavy chain 5
    70(a)
    1 ↔ 1
    4(61559782-61835606)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.340022 Xenopus laevis transcribed sequence with weak similarity more 76.65(n)    BJ064436.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570720832   -- 73.99(n)    57072083 
    fruit fly
    (Drosophila melanogaster)
    Insecta kl-33
    CG94921
    microtubule-based movement motor3
    CG94921
    59(a)
    (best of 4)3
    57.46(n)1
    56.04(a)1
      h83
    411711  NM_141666.41  NP_649923.41 


    ENSEMBL Gene Tree for DNAH5 (if available)
    TreeFam Gene Tree for DNAH5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNAH5 gene
    DNAH22  DYNC1H12  DNAH82  DYNC2H12  DNAH92  DNAH32  DNAH112  DNAH72  
    DNAH62  DNAH12  DNAH102  DNAH172  
    18 SIMAP similar genes for DNAH5 using alignment to 2 protein entries:     DYH5_HUMAN (see all proteins):
    DNAH8    Dnahc11    DNAH12    Dnahc3    Dnahc9    DYNC1H1
    Dnchc1    DNAH14    DYNC2H1    DNAH1    DNAH11    DNAH3
    DNAH10    DNAH2    DNAH9    DNAH17    DNAH6    DNAH7

    DNAH5 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)
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    Selected SNPs for DNAH5 (see all 6420)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0307104
    Ciliary dyskinesia, primary, 3 (CILD3)4--see VAR_0307102 W S mis40--------
    VAR_0307114
    Ciliary dyskinesia, primary, 3 (CILD3)4--see VAR_0307112 S L mis40--------
    VAR_0307094
    Ciliary dyskinesia, primary, 3 (CILD3)4--see VAR_0307092 F S mis40--------
    VAR_0307124
    Ciliary dyskinesia, primary, 3 (CILD3)4--see VAR_0307122 G V mis40--------
    VAR_0307054
    Ciliary dyskinesia, primary, 3 (CILD3)4--see VAR_0307052 R L mis40--------
    VAR_0196084
    Kartagener syndrome (KTGS)4--see VAR_0196082 G R mis40--------
    VAR_0307084
    Ciliary dyskinesia, primary, 3 (CILD3)4--see VAR_0307082 R P mis40--------
    VAR_0307064
    Ciliary dyskinesia, primary, 3 (CILD3)4--see VAR_0307062 S N mis40--------
    VAR_0307074
    Ciliary dyskinesia, primary, 3 (CILD3)4--see VAR_0307072 E K mis40--------
    rs799671661,2
    Cpathogenic113701579(-) TTGTAC/GGTATG 2 R G mis10--------

    HapMap Linkage Disequilibrium report for DNAH5 (13690437 - 13940437 bp, first 250kb of DNAH5)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DNAH5 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1927773CNV Deletion18987734
    esv997684CNV Deletion20482838
    esv2729797CNV Deletion23290073
    esv2729798CNV Deletion23290073
    esv2729799CNV Deletion23290073
    esv2729796CNV Deletion23290073
    esv2193030CNV Deletion18987734
    esv2526226CNV Deletion19546169
    esv5337CNV Deletion18987735
    esv1570352CNV Deletion17803354

    Human Gene Mutation Database (HGMD): DNAH5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNAH5
    DNA2.0 Custom Variant and Variant Library Synthesis for DNAH5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603335   
    OMIM disorders: 608644  
    UniProtKB/Swiss-Prot: DYH5_HUMAN, Q8TE73
  • Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]: 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
  • Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association
    of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections,
    bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs
    inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated
    transposition of abdominal viscera). Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for DNAH5 (see all 23):    
    About MalaCards
    secondary ciliary dyskinesia    ciliary dyskinesia, primary, 3, with or without situs inversus    primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia    kartagener syndrome
    primary ciliary dyskinesia    situs inversus    ciliary dyskinesia, primary, 19    heterotaxy
    dextrocardia    astigmatism    bronchiectasis    retinitis pigmentosa
    male infertility    allergic rhinitis    rhinitis    infertility
    retinitis    atherosclerosis    prostate cancer    multiple myeloma

    3 diseases from the University of Copenhagen DISEASES database for DNAH5:
    Primary ciliary dyskinesia     Situs inversus     Male infertility

    DNAH5 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for DNAH5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 63 1 19357118 (1)

    GeneTests: DNAH5
    GeneReviews: DNAH5
    Genetic Association Database (GAD): DNAH5
    Human Genome Epidemiology (HuGE) Navigator: DNAH5 (4 documents)

    Export disorders for DNAH5 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 DNAH5 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with DNAH5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. (PubMed id 11788826)1, 2, 3 Olbrich H.... Omran H. (Nat. Genet. 2002)
    2. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. (PubMed id 19357118)1, 4, 9 Failly M....Blouin J.L. (J. Med. Genet. 2009)
    3. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PubMed id 18492703)1, 4, 9 Zuccarello D....Foresta C. (Hum. Reprod. 2008)
    4. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. (PubMed id 22036096)1, 4 Ramasamy A....Jarvis D.L. (J. Allergy Clin. Immunol. 2011)
    5. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PubMed id 17903303)1, 4 O'Donnell C.J....Demissie S. (BMC Med. Genet. 2007)
    6. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. (PubMed id 16627867)1, 2 Hornef N.... Omran H. (Am. J. Respir. Crit. Care Med. 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    9. Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. (PubMed id 11062149)1, 2 Omran H.... Hildebrandt F. (Am. J. Respir. Cell Mol. Biol. 2000)
    10. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. (PubMed id 9256245)1, 3 Chapelin C....Amselem S. (FEBS Lett. 1997)

    (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: 1767 HGNC: 2950 AceView: DNAH5 Ensembl:ENSG00000039139 euGenes: HUgn1767
    ECgene: DNAH5 H-InvDB: DNAH5

    (According to HUGE)
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    HUGE: KIAA1603

    (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 DNAH5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DNAH5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DNAH5 gene:
    Search GeneIP for patents involving DNAH5

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



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