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

DNAH11 Gene

protein-coding   GIFtS: 56
GCID: GC07P021582

Dynein, Axonemal, Heavy Chain 11

(Previous names: dynein, axonemal, heavy polypeptide 11)
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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)
About This Section

Aliases
Dynein, Axonemal, Heavy Chain 111 2     dynein1
Dynein, Axonemal, Heavy Polypeptide 111 2     Heavy Chain 111
Axonemal Beta Dynein Heavy Chain 112 3     Heavy Chain Beta-Like1
Ciliary Dynein Heavy Chain 112 3     DNHBL2
CILD72 5     DPL112
DNAHBL2 5     Axonemal Dynein Heavy Chain 112
DNAHC112 5     Dynein Heavy Chain 11, Axonemal2
ciliary1     Dynein, Ciliary, Heavy Chain 112

External Ids:    HGNC: 29421   Entrez Gene: 87012   Ensembl: ENSG000001058777   OMIM: 6033395   UniProtKB: Q96DT53   

Export aliases for DNAH11 gene to outside databases

Previous GC identifers: GC07P021227 GC07P021327 GC07P021356 GC07P021549 GC07P021468


(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 DNAH11 Gene:
This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a
microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia.
Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus
totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility.
(provided by RefSeq, Mar 2013)

GeneCards Summary for DNAH11 Gene: 
DNAH11 (dynein, axonemal, heavy chain 11) is a protein-coding gene. Diseases associated with DNAH11 include situs inversus, and ciliary dyskinesia, primary, 7, with out without situs inversus, and among its related super-pathways are Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include microtubule motor activity and ATPase activity. An important paralog of this gene is DNAH5.

UniProtKB/Swiss-Prot: DYH11_HUMAN, Q96DT5
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

Gene Wiki entry for DNAH11 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNAH11 gene promoter:
         AhR   Elk-1   AML1a   Arnt   SRY   POU2F1   HSF2   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DNAH11 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNAH11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAH11


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

Entrez Gene cytogenetic band: 7p21   Ensembl cytogenetic band:  7p15.3   HGNC cytogenetic band: 7p21

DNAH11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAH11 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P021582:  view genomic region     (about GC identifiers)

Start:
21,582,833 bp from pter      End:
21,941,457 bp from pter
Size:
358,625 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 21,634,147-21,992,818     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DYH11_HUMAN, Q96DT5 (See protein sequence)
Recommended Name: Dynein heavy chain 11, axonemal  
Size: 4523 amino acids; 521043 Da
Subunit: Consists of at least two heavy chains and a number of intermediate and light chains
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme
Secondary accessions: Q9UJ82

Explore the universe of human proteins at neXtProt for DNAH11: NX_Q96DT5

Explore proteomics data for DNAH11 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96DT5

  • DNAH11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DNAH11 Protein Expression
    REFSEQ proteins: NP_001264044.1  
    ENSEMBL proteins: 
     ENSP00000475939   ENSP00000476068   ENSP00000475752   ENSP00000330671  

    Human Recombinant Protein Products for DNAH11: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005858axonemal dynein complex NAS--
    GO:0005874microtubule IEA--
    GO:0005929cilium ----
    GO:0009318exodeoxyribonuclease VII complex ----
    GO:0030286dynein complex ----

    DNAH11 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for DNAH11


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DN: Axonemal dyneins

    5/9 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 Q96DT5

    ProtoNet protein and cluster: Q96DT5

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


    UniProtKB/Swiss-Prot: DYH11_HUMAN, Q96DT5
    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


    DNAH11 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYH11_HUMAN, Q96DT5
    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

         Genatlas biochemistry entry for DNAH11:
    dynein,axonemal,motor protein,interacting with microtubules,heavy chain 11,outer arm,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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003777microtubule motor activity NAS--
    GO:0005524ATP binding IEA--
    GO:0008855exodeoxyribonuclease VII activity ----
    GO:0016887ATPase activity IEA--
         
    DNAH11 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for DNAH11:
     Decreased homologous recombina  Increased cell number in G2M,   Synthetic lethal with c-Myc af 

         13 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Dnahc11):
     cardiovascular system  digestive/alimentary  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  liver/biliary system  normal 
     renal/urinary system  reproductive system  respiratory system 

    DNAH11 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DNAH11: Dnah11tm1Bknr Dnah11tm1Ssp

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DNAH11 
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    hsa-miR-370 hsa-miR-3612 hsa-miR-650
    SwitchGear 3'UTR luciferase reporter plasmidDNAH11 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DNAH11 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Neurofilaments
    Cytoplasmic microtubules0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for DNAH11
        Cytoplasmic microtubules




    DNAH11 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAH11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539ciliary or bacterial-type flagellar motility IEA--
    GO:0006308DNA catabolic process ----
    GO:0007018microtubule-based movement IEA--
    GO:0007368determination of left/right symmetry IEA--

    DNAH11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 DNAH11 (DYH11)

    Search CenterWatch for drugs/clinical trials and news about DNAH11 / DYH11

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNAH11 gene: 
    NM_001277115.1  

    Unigene Cluster for DNAH11:

    Dynein, axonemal, heavy chain 11
    Hs.520245  [show with all ESTs]
    Unigene Representative Sequence: NM_001277115
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409508 ENST00000607050 ENST00000483691 ENST00000496218 ENST00000465593
    ENST00000465129 ENST00000605912 ENST00000607413 ENST00000421290 ENST00000479878
    ENST00000328843(uc003svc.3)

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate DNAH11:
    hsa-miR-370 hsa-miR-3612 hsa-miR-650
    SwitchGear 3'UTR luciferase reporter plasmidDNAH11 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAH11
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAH11

    Additional mRNA sequence: 

    AJ132087.1 AJ320497.1 AK054657.1 JQ247523.1 JQ247524.1 

    12 DOTS entries:

    DT.206760  DT.100686408  DT.312472  DT.75137759  DT.121038993  DT.121643830  DT.100677659  DT.100693510 
    DT.40113763  DT.91709553  DT.100748337  DT.121038938 

    24/56 AceView cDNA sequences (see all 56):

    AI087934 AI453059 AI338141 BX098412 NM_003777 AJ320497 AI470098 W32132 
    N90533 AI027859 CB991123 AA922229 AK095018 W04713 AI042319 W31685 
    BX492116 BG186912 AI740921 CB997075 BE072614 AK054657 BU630579 AI027448 

    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™, 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

    DNAH11 expression in normal human tissues (normalized intensities)      DNAH11 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAAAGCAAT
    DNAH11 Expression
    About this image


    DNAH11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelial cells   
     
     Thyroid (Endocrine System)
             parathyroid gland   
     
     Ovary (Reproductive System)
             oocyte   
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive Node Cells Primitive Node
     
     Epiblast (Early Embryo)
             Primitive Node Cells Primitive Node

    See DNAH11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAH11

    SOURCE GeneReport for Unigene cluster: Hs.520245
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH11

    (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 and fungi.

    Orthologs for DNAH11 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnahc111 , 5 dynein, axonemal, heavy chain 111, 5 83.96(n)1
    85.17(a)1
      12 (63.25 cM)5
    134111  NM_010060.31  NP_034190.31 
     1178779825 
    lizard
    (Anolis carolinensis)
    Reptilia --
    DNAH116
    (see all 4)
    Uncharacterized protein
    (see all 4)
    82(a)
    79(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    6(29803195-29885583)
    6(29891618-29972592)
    zebrafish
    (Danio rerio)
    Actinopterygii dnah9l1 dynein, axonemal, heavy polypeptide 9 like 62.32(n)
    60.93(a)
      552915  XM_001919793.2  XP_001919828.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta kl-53 microtubule-based movement motor 85(a)
    (best of 3)
        --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DYN16
    Cytoplasmic heavy chain dynein, microtubule motor ...
    19(a)
    1 → many
    XI(535647-547925)


    ENSEMBL Gene Tree for DNAH11 (if available)
    TreeFam Gene Tree for DNAH11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNAH11 gene
    DNAH52  DNAH22  DYNC1H12  DNAH82  DYNC2H12  DNAH92  DNAH32  DNAH72  
    DNAH62  DNAH12  DNAH102  DNAH172  
    16 SIMAP similar genes for DNAH11 using alignment to 10 protein entries:     DYH11_HUMAN (see all proteins):
    Dnahc11    Dnahc9    Dnahc3    Dnchc1    DNAH9    DNAH17
    DNAH5    DNAH14    DNAH1    DNAH10    DNAH2    DNAH3
    DNAH6    DNAH7    DNAH8    DNAH12

    DNAH11 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for DNAH11
    PGOHUM00000239913 PGOHUM00000240428 PGOHUM00000240432 PGOHUM00000249644


    (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) 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

    10/10637 SNPs in DNAH11 are shown (see all 10637)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs358653571,2,4
    C,FPrimary ciliary dyskinesia 7 (CILD7)4 --21779392(+) AGCTCG/AGAAGT 2 /Q /R mis13Minor allele frequency- A:0.01NA EU 597
    rs1219088541,2
    Cpathogenic121762517(+) TCTTAC/G/TGAACC 2 R * stg12NA EU 689
    VAR_0138534
    ----see VAR_0138532 S C mis40--------
    VAR_0138514
    ----see VAR_0138512 E L mis40--------
    VAR_0138584
    ----see VAR_0138582 I V mis40--------
    rs1154201161,2
    C--21491392(+) GAAAAA/GAAAAA 1 -- int10--------
    rs1390310001,2
    C--21523391(+) TGCAA-/AAA   
       TAAAT
    AAATA
    1 -- int10--------
    rs1811490321,2
    --21555155(+) GCACAA/TAATTG 1 -- us2k10--------
    rs96393801,2
    C,F,H--21555207(+) ATAAAA/CCTTGG 1 -- us2k122Minor allele frequency- C:0.34NS EA NA WA CSA 2762
    rs1860394891,2
    --21555265(+) TCACCA/GGCCAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNAH11 (21582833 - 21832833 bp, first 250kb of DNAH11)

    Structural Variations
         Database of Genomic Variants (DGV) 10/28 variations for DNAH11 (see all 28):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv5289CNV Deletion18987735
    esv2678032CNV Deletion23128226
    esv2663890CNV Deletion23128226
    dgv1188e199CNV Deletion23128226
    esv2734114CNV Deletion23290073
    esv2667195CNV Deletion23128226
    esv2734115CNV Deletion23290073
    esv2734113CNV Deletion23290073
    esv1358263CNV Insertion17803354
    esv269405CNV Insertion20981092


    Human Gene Mutation Database (HGMD): DNAH11
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DNAH11
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603339   
    OMIM disorders: 611884  
    UniProtKB/Swiss-Prot: DYH11_HUMAN, Q96DT5
  • 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
  • Primary ciliary dyskinesia 7 (CILD7) [MIM:611884]: 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

  • 11 diseases for DNAH11:    About MalaCards
    situs inversus    ciliary dyskinesia, primary, 7, with out without situs inversus    primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia    kartagener syndrome
    primary ciliary dyskinesia    dextrocardia    bronchiectasis    coronary heart disease
    infertility    myeloma    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for DNAH11:
    Primary ciliary dyskinesia     Situs inversus

    DNAH11 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    GeneTests: DNAH11
    GeneReviews: DNAH11
    Genetic Association Database (GAD): DNAH11
    Human Genome Epidemiology (HuGE) Navigator: DNAH11 (4 documents)

    Export disorders for DNAH11 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 DNAH11 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with DNAH11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. (PubMed id 12142464)1, 2, 9 Bartoloni L....Antonarakis S.E. (2002)
    2. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PubMed id 18492703)1, 4, 9 Zuccarello D....Foresta C. (2008)
    3. Common variation at 3p22.1 and 7p15.3 influences multi ple myeloma risk. (PubMed id 22120009)1, 4 Broderick P....Houlston R.S. (2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (2010)
    6. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PubMed id 21116278)1, 4 Furney S.J....Lovestone S. (2010)
    7. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (PubMed id 19060911)1, 4 Aulchenko Y.S....Peltonen L. (2009)
    8. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. (PubMed id 18022865)1, 2 Schwabe G.C.... Bartoloni L. (2008)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    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. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8701 HGNC: 2942 AceView: DNAH11 Ensembl:ENSG00000105877 euGenes: HUgn8701
    ECgene: DNAH11 H-InvDB: DNAH11

    (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 DNAH11 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 DNAH11 gene:
    Search GeneIP for patents involving DNAH11

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



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