Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

DNAH11 Gene

protein-coding   GIFtS: 54
GCID: GC07P021582

dynein, axonemal, heavy chain 11

(Previous names: dynein, axonemal, heavy polypeptide 11 )
 Explore 10 diseases affiliated with
DNAH11 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DNAH11    

Aliases
for DNAH11 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 111 2     Axonemal Beta Dynein Heavy Chain 112 3
CILD71 2 5     Ciliary Dynein Heavy Chain 112 3
DNAHBL1 2 5     Dnahc111
DNAHC111 2 5     Axonemal Dynein Heavy Chain 112
DNHBL1 2     Dynein Heavy Chain 11, Axonemal2
DPL111 2     Dynein, Ciliary, Heavy Chain 112
Dynein, Axonemal, Heavy Polypeptide 111 2     

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


Summaries
for DNAH11 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 DNAH11:
This gene encodes 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, Jul 2008)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  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     

Proteins
for DNAH11 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96DT5

    • DNAH11 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003768.2  
    ENSEMBL proteins: 
     ENSP00000403651   ENSP00000330671  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for DNAH11 
    GenScript Custom Purified and Recombinant Proteins Services for DNAH11
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DNAH11

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

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


    DNAH11 for ontologies           About GeneDecksing



    DNAH11 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DNAH11 
    GenScript Custom Superior Antibodies Services for DNAH11
    Novus Biologicals DNAH11 Antibody
    Search for Antibodies for DNAH11 at Abcam  
    Uscn Antibodies for DNAH11
    Search ThermoFisher Antibodies for DNAH11

    Assay Products for DNAH11: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DNAH11
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DNAH11

    Protein Domains /
    Families
    for DNAH11 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DNAH11 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     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 Q96DT5

    ProtoNet protein and cluster: Q96DT5

    3 Blocks protein families:
    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


    Function
    for DNAH11 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: DNAH11
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DNAH11
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate DNAH11:
    hsa-miR-370 hsa-miR-3612 hsa-miR-650
    SwitchGear 3'UTR luciferase reporter plasmid: DNAH11 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAH11 (see all 4)
    OriGene shRNA RFP: DNAH11
    OriGene siRNA: DNAH11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAH11

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DNAH11

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH11
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH11
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DNAH11 (NM_003777)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAH11
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH11 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for DNAH11
    Search LifeMap BioReagents cell lines for DNAH11

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH11

    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 NAS--
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--


    DNAH11 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for DNAH11: Dnahc11tm1Bknr Dnahc11tm1Ssp
         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


    Pathways & Interactions
    for DNAH11 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 DNAH11
        Cytoplasmic microtubules




    DNAH11 for pathways           About GeneDecksing

    Interactions:

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

    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:0007368determination of left/right symmetry IEA--


    DNAH11 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DNAH11 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
    Browse drugs & compounds from Enzo Life Sciences

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

    Transcripts
    for DNAH11 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DNAH11 gene: 
    NM_003777.3  

    Unigene Cluster for DNAH11:

    Dynein, axonemal, heavy chain 11
    Hs.520245  [show with all ESTs]
    Unigene Representative Sequence: NM_003777
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409508 ENST00000483691 ENST00000496218 ENST00000465593 ENST00000465129
    ENST00000421290 ENST00000479878 ENST00000328843(uc003svc.3)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: DNAH11
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DNAH11
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate DNAH11:
    hsa-miR-370 hsa-miR-3612 hsa-miR-650
    SwitchGear 3'UTR luciferase reporter plasmid: DNAH11 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAH11 (see all 4)
    OriGene shRNA RFP: DNAH11
    OriGene siRNA: DNAH11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAH11
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH11
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH11
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DNAH11 (NM_003777)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAH11
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH11 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAH11
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAH11
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAH11
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAH11

    Additional cDNA 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):

    BX098412 AI087934 AJ320497 AI338141 AI453059 NM_003777 W04713 CB991123 
    BX492116 BU630579 N90533 AI042319 AK095018 AI470098 CB997075 W32132 
    AI027859 AK054657 AI740921 BG186912 AA922229 W31685 BE072614 BQ365981 

    GeneLoc Exon Structure


    Expression
    for DNAH11 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

    DNAH11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAAAGCAAT

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

    DNAH11 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Primitive StreakPrimitive NodePrimitive Node CellsEarly Embryo
    HeartLeft VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.520245
        SABiosciences Custom PCR Arrays for DNAH11
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAH11
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAH11
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAH11
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAH11
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH11

    Orthologs
    for DNAH11 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 DNAH11 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DNAH176
    		 Uncharacterized protein
    		 71(a)
    		 possible ortholog
    		 18(9748443-9770491)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    DNAH116
    		 --
    		 82(a)
    79(a)
    		 1 ↔ many
    1 ↔ many
    		 6(29836539-29870439)
    6(29910922-29972592)
    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)    		     --


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

    Paralogs
    for DNAH11 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNAH11 gene
    DNAH52  DNAH22  DNAH82  DYNC1H12  DYNC2H12  DNAH92  DNAH32  DNAH72  
    DNAH62  DNAH12  DNAH102  DNAH172  
    17 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    DYNC1H1

    DNAH11 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for DNAH11
    PGOHUM00000239913 PGOHUM00000240428 PGOHUM00000240432 PGOHUM00000249644


    Genomic Variants
    for DNAH11 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

    10/8649 NCBI SNPs in DNAH11 are shown (see all 8649)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219088541,2
    		C,pathogenic21839529(+) TCTTAC/G/TGAACC 3 R G * mis1 stg10--------
    rs1811490321,2
    		--21580861(+) GCACAA/TAATTG 1 -- us2k10--------
    rs96393801,2
    		C,F,H,--21580913(+) ATAAAA/CCTTGG 1 -- us2k122Minor allele frequency- C:0.34NS EA NA WA CSA 2762
    rs1860394891,2
    		--21580971(+) TCACCA/GGCCAA 1 -- us2k10--------
    rs1423368931,2
    		--21581092(+) AATACA/CGATGT 1 -- us2k10--------
    rs1512641561,2
    		--21581122(+) AATTAC/TTTTTT 1 -- us2k10--------
    rs1149536681,2
    		F,--21581164(+) CATTAG/ATGAGT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs96387861,2
    		C,F,A,H,--21581350(+) ATTGCA/CCTTTA 1 -- us2k1 tfbs316Minor allele frequency- C:0.28NS EA NA WA CSA 1530
    rs1807729671,2
    		--21581363(+) GTTAGC/TATCAT 1 -- us2k10--------
    rs1864204101,2
    		--21581375(+) TAAAAA/CATTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNAH11 (21582833 - 21832833 bp, first 250kb of DNAH11)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for DNAH11
         2 CNVs: 69821 4527
         5 Indels: 69822 40960 10794 12913 41557
    Human Gene Mutation Database (HGMD): DNAH11

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAH11
    DNA2.0 Custom Variant and Variant Library Synthesis for DNAH11

    Disorders / Diseases
    for DNAH11 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DNAH11 for disorders           About GeneDecksing

    OMIM gene information: 603339   
    OMIM disorders: 611884  
    UniProtKB/Swiss-Prot: DYH11_HUMAN, Q96DT5
  • Defects in DNAH11 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)
  • Defects in DNAH11 are the cause of primary ciliary dyskinesia type 7 (CILD7) [MIM:611884]. CILD is an
    • autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading
    to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility
    is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus,
    due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary
    dyskinesia associated with situs inversus is referred to as Kartagener syndrome

    10 diseases for DNAH11:    About MalaCards
    situs inversus    ciliary dyskinesia, primary, 7, with out without situs inversus    ciliary dyskinesia    primary ciliary dyskinesia
    kartagener syndrome    dextrocardia    coronary heart disease    bronchiectasis
    alzheimer's disease    malaria

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

    Human Genome Epidemiology (HuGE) Navigator: DNAH11 (4 documents)

    Export disorders for DNAH11 gene to outside databases

    Publications
    for DNAH11 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 DNAH11 gene, integrated from 9 sources (see all 24):
    (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. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. (PubMed id 18022865)1, 2 Schwabe G.C.... Bartoloni L. (2008)
    3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    4. 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)
    5. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PubMed id 18492703)1, 9 Zuccarello D....Foresta C. (2008)
    6. Common variation at 3p22.1 and 7p15.3 influences multi ple myeloma risk. (PubMed id 22120009)1 Broderick P....Houlston R.S. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. (PubMed id 22184204)1 Knowles M.R....Zariwala M.A. (2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)

    External Searches for DNAH11 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 DNAH11 gene

    (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

    Other Databases showing DNAH11 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DNAH11 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 DNAH11 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DNAH11 gene

    (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



    Products
    for DNAH11 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for DNAH11  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAH11   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAH11  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for DNAH11   OriGene 3'-UTR Clone for DNAH11  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH11   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAH11  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DNAH11   OriGene Custom Protein Services for DNAH11  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DNAH11
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAH11
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAH11
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAH11
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAH11
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAH11
     GenScript Custom Purified and Recombinant Proteins Services for DNAH11 GenScript cDNA clones with any tag delivered in your preferred vector for DNAH11
     GenScript Custom Assay Services for DNAH11 GenScript Custom Superior Antibodies Services for DNAH11
     GenScript Custom overexpressing Cell Line Services for DNAH11 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DNAH11 promoter
     Search Chromatin IP Primers for DNAH11
     RT2 qPCR Primer Assay in human, mouse, rat DNAH11
     Search GNC Networks for DNAH11
     SABiosciences Custom PCR Arrays for DNAH11
     Search Tocris compounds for DNAH11
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     DNAH11 antibodies
     Search for Antibodies for DNAH11 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for DNAH11
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     DNAH11 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for DNAH11
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAH11
     SwitchGear 3'UTR luciferase reporter plasmids for DNAH11
     SwitchGear Promoter luciferase reporter plasmids for DNAH11
     Search ThermoFisher Antibodies for DNAH11
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DNAH11
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      DNAH11 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4