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GIFtS

DNAH5 Gene

protein-coding   GIFtS: 56
GCID: GC05M013745

dynein, axonemal, heavy chain 5

(Previous names: dynein, axonemal, heavy polypeptide 5 )
 Explore 12 diseases affiliated with
DNAH5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DNAH5    

Aliases
for DNAH5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dynein, Axonemal, Heavy Chain 51 2     Axonemal Beta Dynein Heavy Chain 52 3
HL11 2 3 5     Ciliary Dynein Heavy Chain 52 3
CILD31 2 5     DNAHC52 3
PCD1 2 5     Dnahc51
KTGNR1 2     Dynein Heavy Chain 5, Axonemal2
Dynein, Axonemal, Heavy Polypeptide 51 2     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


Summaries
for DNAH5 gene

(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 DNAH5:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences 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 plasmid: DNAH5 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNAH5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for DNAH5 gene

(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: 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
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TE73

    • DNAH5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001360.1  
    ENSEMBL proteins: 
     ENSP00000265104  

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    Uscn Proteins for DNAH5

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm ----
    GO:0005858axonemal dynein complex IEA--
    GO:0005874microtubule IEA--
    GO:0035085cilium axoneme IEA--


    DNAH5 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for DNAH5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DNAH5 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR004273 Dynein_heavy_dom
     IPR011704 ATPase_dyneun-rel_AAA
     IPR013602 Dynein_heavy_dom-2
     IPR013594 Dynein_heavy_dom-1
     IPR024317 Dynein_heavy_chain_D4_dom

    Graphical View of Domain Structure for InterPro Entry Q8TE73

    ProtoNet protein and cluster: Q8TE73

    3 Blocks protein families:
    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


    Function
    for DNAH5 gene

    (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: 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

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    Gene Editing
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity NAS8812413
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--


    DNAH5 for ontologies           About GeneDecksing


    Animal Models:
         14 MGI mutant phenotypes (inferred from 10 alleles) (MGI details for Dnahc5):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  growth/size 
     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


    Pathways & Interactions
    for DNAH5 gene

    (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
    1Cytoskeleton remodeling Neurofilaments
    		Cytoplasmic microtubules0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DNAH5
        Cytoplasmic microtubules




    DNAH5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAH5

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

    5/37 Interacting proteins for DNAH5 (Q8TE733 ENSP000002651044) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539ciliary or flagellar motility IEA--
    GO:0007018microtubule-based movement IEA--
    GO:0008150biological_process ND--


    DNAH5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DNAH5 gene

    (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
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    Browse Tocris compounds for DNAH5
    Search CenterWatch for drugs/clinical trials and news about DNAH5 / DYH5 

    Transcripts
    for DNAH5 gene

    (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,
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    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 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)

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    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
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAH5 (see all 4)
    OriGene shRNA RFP: DNAH5
    OriGene siRNA: DNAH5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAH5
    Clone
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    Additional cDNA 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 

    24/48 AceView cDNA sequences (see all 48):

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

    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

    Expression
    for DNAH5 gene

    (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

    DNAH5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGGTTGTAT

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

    DNAH5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DNAH5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAH5

    SOURCE GeneReport for Unigene cluster: Hs.212360
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    In Situ
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    Orthologs
    for DNAH5 gene

    (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 DNAH5 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Dnahc51 , 5 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_419006.3  XP_419006.3 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    DNAH56
    (see all 3)    		 --
    		 87(a)
    70(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 4(61804883-61833390)
    4(61581671-61803477)
    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
    57.39(n)1
    55.94(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
    for DNAH5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNAH5 gene
    DNAH22  DNAH82  DYNC1H12  DYNC2H12  DNAH92  DNAH32  DNAH112  DNAH62  
    DNAH72  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    DNAH11    DNAH1    DNAH3
    DNAH10    DNAH2    DNAH9    DNAH17    DNAH6    DNAH7

    DNAH5 for paralogs           About GeneDecksing



    Genomic Variants
    for DNAH5 gene

    (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

    10/5233 NCBI SNPs in DNAH5 are shown (see all 5233)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs799671661,2
    		Cpathogenic13725645(-) TTGTAC/GGTATG 2 R G mis10--------
    rs1416515751,2
    		Cother13883524(+) CTCTTC/TGTAAT 2 K E mis11Minor allele frequency- T:0.00NA 4544
    rs37566741,2
    		C,F,H,--13661575(-) TTCTGC/AATAGC 1 -- ds50015Minor allele frequency- A:0.07EA NS 1896
    rs348172391,2
    		C,--13661689(+) AGACTT/CATGCA 1 -- ds50014Minor allele frequency- C:0.12NA WA 242
    rs37566731,2
    		C,H,--13661874(-) TGTCAA/GCATCA 1 -- ut31 ese35Minor allele frequency- G:0.00NS EA NA 536
    rs777011431,2
    		C,F,--13662108(+) CTCCCG/AGTATC 1 -- ut311Minor allele frequency- A:0.10WA 118
    rs772896481,2
    		C,F,--13662848(+) GCTATC/GATTTA 1 -- ut311Minor allele frequency- G:0.09WA 118
    rs759175321,2
    		C,F,--13663737(+) TGTAGG/ATCATT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs133547951,2
    		C,F,H,--13664553(+) CTGCCC/TACAGT 1 -- int15Minor allele frequency- T:0.03NS EA WA 536
    rs121884321,2
    		A,--13664704(+) AAATTA/TAAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for DNAH5 (13690437 - 13940437 bp, first 250kb of DNAH5)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for DNAH5
         2 CNVs: 99067 51577
         6 Indels: 62351 41853 99066 40737 46777 27816
    Human Gene Mutation Database (HGMD): DNAH5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAH5
    DNA2.0 Custom Variant and Variant Library Synthesis for DNAH5

    Disorders / Diseases
    for DNAH5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DNAH5 for disorders           About GeneDecksing

    OMIM gene information: 603335   
    OMIM disorders: 608644  
    UniProtKB/Swiss-Prot: DYH5_HUMAN, Q8TE73
  • Defects in DNAH5 are the cause of primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]. CILD3 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
  • Defects in DNAH5 are a cause of Kartagener syndrome (KTGS) [MIM:244400]. KTGS is 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)

    12 diseases for DNAH5:    About MalaCards
    ciliary dyskinesia    primary ciliary dyskinesia    ciliary dyskinesia, primary, 3, with or without situs inversus    kartagener syndrome
    situs inversus    retinitis pigmentosa    heterotaxy    dextrocardia
    bronchiectasis    retinitis    atherosclerosis    malaria

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

    1 Novoseek 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
    Primary Ciliary Dyskinesia

    Human Genome Epidemiology (HuGE) Navigator: DNAH5 (4 documents)

    Export disorders for DNAH5 gene to outside databases

    Publications
    for DNAH5 gene

    (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 DNAH5 gene, integrated from 9 sources (see all 33):
    (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. (2002)
    2. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. (PubMed id 16627867)1, 2 Hornef N.... Omran H. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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. (2000)
    5. 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. (2000)
    6. 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. (1997)
    7. Multiple mouse chromosomal loci for dynein-based motility. (PubMed id 8812413)1, 2 Vaughan K.T....Vallee R.B. (1996)
    8. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. (PubMed id 19357118)1, 9 Failly M....Blouin J.L. (2009)
    9. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PubMed id 18492703)1, 9 Zuccarello D....Foresta C. (2008)
    10. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)

    External Searches for DNAH5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DNAH5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1767 HGNC: 2950 AceView: DNAH5 Ensembl:ENSG00000039139 euGenes: HUgn1767
    ECgene: DNAH5 H-InvDB: DNAH5

    Other Databases showing DNAH5 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1603

    Specialized Databases showing DNAH5 gene

    (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 DNAH5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DNAH5

    Intellectual Property
    for DNAH5 gene

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

     
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