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DNAH8 Gene

protein-coding   GIFtS: 56
GCID: GC06P038685

Dynein, Axonemal, Heavy Chain 8

(Previous names: dynein, axonemal, heavy polypeptide 8)
  See DNAH8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dynein, Axonemal, Heavy Chain 81 2     ATPase2
Dynein, Axonemal, Heavy Polypeptide 81 2     Dynein Heavy Chain 8, Axonemal2
Axonemal Beta Dynein Heavy Chain 82 3     hdhc92
Ciliary Dynein Heavy Chain 82 3     HDHC95

External Ids:    HGNC: 29521   Entrez Gene: 17692   Ensembl: ENSG000001247217   OMIM: 6033375   UniProtKB: Q96JB13   

Export aliases for DNAH8 gene to outside databases

Previous GC identifers: GC06P038692 GC06P038729 GC06P038737 GC06P038791 GC06P038408


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DNAH8 Gene:
The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia
motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. (provided by
RefSeq, Jan 2012)

GeneCards Summary for DNAH8 Gene:
DNAH8 (dynein, axonemal, heavy chain 8) is a protein-coding gene. Diseases associated with DNAH8 include myosin storage myopathy, and reducing body myopathy. GO annotations related to this gene include microtubule motor activity and ATPase activity. An important paralog of this gene is DNAH5.

UniProtKB/Swiss-Prot: DYH8_HUMAN, Q96JB1
Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.
Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in
sperm motility; implicated in sperm flagellar assembly (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNAH8 gene promoter:
         GR   TBP   AML1a   p53   C/EBPalpha   AREB6   Ik-2   FOXO4   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAH8 promoter sequence
   Search Chromatin IP Primers for DNAH8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAH8


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

Entrez Gene cytogenetic band: 6p21.2   Ensembl cytogenetic band:  6p21.2   HGNC cytogenetic band: 6p21.2

DNAH8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAH8 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P038685:  view genomic region     (about GC identifiers)

Start:
38,683,117 bp from pter      End:
38,998,574 bp from pter
Size:
315,458 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DYH8_HUMAN, Q96JB1 (See protein sequence)
Recommended Name: Dynein heavy chain 8, axonemal  
Size: 4490 amino acids; 514664 Da
Subunit: Consists of at least two heavy chains and a number of intermediate and light chains
Sequence caution: Sequence=CAI19770.1; Type=Erroneous gene model prediction; Sequence=CAI19821.1; Type=Erroneous
gene model prediction; Sequence=CAI19822.1; Type=Erroneous gene model prediction; Sequence=CAI20293.1;
Type=Erroneous gene model prediction; Sequence=CAI20294.1; Type=Erroneous gene model prediction;
Sequence=CAI21587.1; Type=Erroneous gene model prediction; Sequence=CAI21588.1; Type=Erroneous gene model
prediction; Sequence=CAI42435.1; Type=Erroneous gene model prediction; Sequence=CAI42436.1; Type=Erroneous gene
model prediction;
Secondary accessions: O00438 Q5JYI2 Q5T2M3 Q5T2M4 Q5TG00 Q9UEM4
Alternative splicing: 4 isoforms:  Q96JB1-1   Q96JB1-2   Q96JB1-3   Q96JB1-4   

Explore the universe of human proteins at neXtProt for DNAH8: NX_Q96JB1

Explore proteomics data for DNAH8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DNAH8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001193856.1  
    ENSEMBL proteins: 
     ENSP00000415331   ENSP00000362375   ENSP00000333363   ENSP00000352312   ENSP00000377916  
     ENSP00000402294  

    DNAH8 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DNAH8

     
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    Search eBioscience for ELISAs for DNAH8 


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

    Selected InterPro protein domains (see all 9):
     IPR004273 Dynein_heavy_dom
     IPR024317 Dynein_heavy_chain_D4_dom
     IPR024743 Dynein_HC_stalk
     IPR011704 ATPase_dyneun-rel_AAA
     IPR013602 Dynein_heavy_dom-2

    Graphical View of Domain Structure for InterPro Entry Q96JB1

    ProtoNet protein and cluster: Q96JB1

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


    UniProtKB/Swiss-Prot: DYH8_HUMAN, Q96JB1
    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


    Find genes that share domains with DNAH8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYH8_HUMAN, Q96JB1
    Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.
    Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in
    sperm motility; implicated in sperm flagellar assembly (By similarity)

         Genatlas biochemistry entry for DNAH8:
    dynein,axonemal,motor protein interacting with microtubules,heavy chain 8,putative outer arm,involved in
    intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus,with
    ATPase activity

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003777microtubule motor activity NAS9373155
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    Find genes that share ontologies with DNAH8           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DNAH8:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNAH8
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNAH8

    miRNA
    Products:
        
    miRTarBase miRNAs that target DNAH8:
    hsa-mir-19b-1-5p (MIRT038978)

    Block miRNA regulation of human, mouse, rat DNAH8 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DNAH8:
    hsa-miR-651
    SwitchGear 3'UTR luciferase reporter plasmidDNAH8 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DNAH8

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: DNAH8 (NM_001371)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DYH8_HUMAN, Q96JB1: Cytoplasm, cytoskeleton, cilium axoneme (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endoplasmic reticulum4
    plasma membrane4
    chloroplast3
    cytosol3
    extracellular3
    mitochondrion3
    nucleus3
    vacuole3
    endosome2
    golgi apparatus2
    lysosome2
    peroxisome2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005858axonemal dynein complex NAS9373155
    GO:0005874microtubule IEA--
    GO:0030286dynein complex ----
    GO:0031514motile cilium IEA--

    Find genes that share ontologies with DNAH8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DNAH8 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytoplasmic microtubules
    Cytoplasmic microtubules0.32



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNAH8
    Interactions:

        Search GeneGlobe Interaction Network for DNAH8

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

    Selected Interacting proteins for DNAH8 (Q96JB13 ENSP000003523124) via UniProtKB, MINT, STRING, and/or I2D (see all 99)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    DNAH1ENSP000004015144STRING: ENSP00000401514
    DNAH17ENSP000003744904STRING: ENSP00000374490
    DNAH2ENSP000003738254STRING: ENSP00000373825
    DNAH3ENSP000002613834STRING: ENSP00000261383
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539cilium or flagellum-dependent cell motility NAS9373155
    GO:0007018microtubule-based movement IEA--
    GO:0008152metabolic process NAS9373155

    Find genes that share ontologies with DNAH8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DNAH8 (DYH8)

    Selected Novoseek inferred chemical compound relationships for DNAH8 gene (see all 143)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 93 1307 8824294 (6), 8584847 (6), 15211112 (5), 8413273 (4) (see all 99)
    adp 86.5 251 9990313 (5), 1394870 (4), 7787062 (3), 2137348 (3) (see all 99)
    actomyosin 86.3 116 8109349 (3), 10820843 (3), 18712111 (3), 2145209 (3) (see all 72)
    vanadate 79.9 85 9832613 (3), 9553060 (2), 9778376 (2), 1531965 (2) (see all 66)
    amp-pnp 79.2 26 2150967 (3), 17157262 (2), 10944121 (2), 14581226 (2) (see all 14)
    mgatp 78.7 38 9647648 (2), 11736648 (2), 8425522 (2), 2146159 (2) (see all 28)
    (125i)iodoarylazidoprazosin 78.6 20 11761450 (2), 16815914 (2), 19132374 (2), 10529234 (1) (see all 14)
    beryllium fluoride 78.5 14 17561960 (2), 8816715 (1), 12359072 (1), 18052080 (1) (see all 12)
    4-bromomethyl-6,7-dimethoxycoumarin 77.7 17 7772032 (3), 8110202 (1), 8110203 (1), 9032452 (1) (see all 8)
    mgadp 76.6 27 15709756 (2), 17561960 (2), 1386805 (1), 9860834 (1) (see all 20)



    Find genes that share compounds with DNAH8           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DNAH8 gene (2 alternative transcripts): 
    NM_001371.2  NM_001206927.1  

    Unigene Cluster for DNAH8:

    Dynein, axonemal, heavy chain 8
    Hs.520106  [show with all ESTs]
    Unigene Representative Sequence: NM_001206927
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000449981 ENST00000373278 ENST00000327475(uc021yzh.1 uc003ooe.2)
    ENST00000359357 ENST00000394393 ENST00000441566(uc003oog.1)
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate DNAH8:
    hsa-miR-651
    SwitchGear 3'UTR luciferase reporter plasmidDNAH8 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat DNAH8

    Additional mRNA sequence: 

    AF356519.1 AF527621.1 AF527622.1 AJ132090.1 AJ132091.1 AK093434.1 AK093653.1 AK098716.1 
    Z83806.1 

    4 DOTS entries:

    DT.307566  DT.100019057  DT.99927707  DT.91643461 

    Selected AceView cDNA sequences (see all 29):

    NM_001371 AL042677 AF356519 CF147472 AF527621 AL042676 AX748244 AI805281 
    AK098716 AI829624 AI269674 AW270168 AF527622 AJ132091 AL042262 AX748124 
    AK093434 BP371563 AK093653 BF221813 BV171164 CF139576 BF985394 BG189253 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DNAH8    About this scheme

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

    ExUns: 26 ^ 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 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 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 ^ 81 ^ 82 ^ 83 ^ 84 ^ 85 ^ 86 ^ 87a · 87b ^ 88 ^ 89 ^ 90 ^ 91 ^ 92 ^ 93 ^
    SP1:                                                                                                      
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                                      


    ECgene alternative splicing isoforms for DNAH8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DNAH8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATCCACCC
    DNAH8 Expression
    About this image


    DNAH8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    DNAH8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNAH8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520106
        Custom PCR Arrays for DNAH8
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DNAH8 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnahc85
    Dnah81
    dynein, axonemal, heavy chain 81, 5 83.24(n)1
    92.13(a)1
      17 (15.71 cM)5
    134171  NM_013811.31  NP_038839.21 
     306269365 
    chicken
    (Gallus gallus)
    Aves LOC1008581121 dynein heavy chain 8, axonemal-like 76.61(n)
    80.43(a)
      100858112  XM_003640946.2  XP_003640994.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    88(a)
    83(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    1(230082098-230134306)
    1(246195845-246248865)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.277332 Transcribed sequence with weak similarity to protein more 72.16(n)    57071209 
    fruit fly
    (Drosophila melanogaster)
    Insecta kl-31 , 3 microtubule-based movement motor3
    male fertility factor kl31
    60(a)
    (best of 3)3
    60.7(n)1
    61.61(a)1
      h83
    57406531  NM_001111012.11  NP_001104482.11 


    ENSEMBL Gene Tree for DNAH8 (if available)
    TreeFam Gene Tree for DNAH8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNAH8 gene
    DNAH52  DNAH22  DYNC1H12  DYNC2H12  DNAH92  DNAH32  DNAH112  DNAH72  
    DNAH62  DNAH12  DNAH102  DNAH172  
    15 SIMAP similar genes for DNAH8 using alignment to 5 protein entries:     DYH8_HUMAN (see all proteins):
    DNAH5    Dnahc11    Dnahc9    Dnchc1    Dnahc3    DNAH14
    DNAH6    DNAH7    DNAH9    DNAH10    DNAH11    DNAH2
    DNAH17    DNAH3    DNAH1

    Find genes that share paralogs with DNAH8           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DNAH8 (see all 6213)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362134
    A colorectal cancer sample4--see VAR_0362132 T M mis40--------
    rs1459617611,2
    Cuntested138758064(+) TTCTAA/C/GGTGGA 1 -- spa10--------
    rs681488781,2
    C--38409594(+) TAAAT-/TTAA  
            
    TTAAT
    1 -- int10--------
    rs679429081,2
    C--38516307(+) AAAAA-/AA/AA 
     A
    /AAAAA
    GACCT
    1 -- int11NA 2
    rs1931037611,2
    --38681130(+) ATGGGA/GTTTAC 1 -- us2k10--------
    rs715713441,2
    C,F--38681152(+) CCTCAA/GGAGAA 1 -- us2k13Minor allele frequency- G:0.05NA WA 122
    rs1827214021,2
    --38681166(+) TGTGGA/GAGGTA 1 -- us2k10--------
    rs1875275391,2
    --38681198(+) ATTCTC/TAGGGT 1 -- us2k10--------
    rs122020971,2
    C,F,A,H--38681203(+) CAGGGT/GTGCTA 1 -- us2k18Minor allele frequency- G:0.15EA NS NA 520
    rs1916387271,2
    --38681234(+) AAGCTA/TGTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNAH8 (38683117 - 38933117 bp, first 250kb of DNAH8)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DNAH8 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656888CNV Deletion23128226
    esv2254109CNV Deletion18987734
    esv2731952CNV Deletion23290073
    esv2479524CNV Deletion19546169
    esv3083CNV Deletion18987735
    esv2731953CNV Deletion23290073
    nsv5270CNV Insertion18451855
    nsv5269CNV Insertion18451855
    nsv823676CNV Loss20364138
    nsv819570CNV Loss19587683

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNAH8
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    (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.)
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    OMIM gene information: 603337    OMIM disorders: --

    15 diseases for DNAH8:    
    About MalaCards
    myosin storage myopathy    reducing body myopathy    breast adenoma    pthirus pubis infestation
    colchicine resistance    giardiasis    torsion dystonia    keratosis follicularis
    malignant hypertension    restrictive cardiomyopathy    galactosialidosis    zollinger-ellison syndrome
    hemiplegic migraine    diabetic angiopathy    hailey-hailey disease

    Selected diseases from the University of Copenhagen DISEASES database for DNAH8 (see all 27):
    Menkes disease     Wilson disease     Hypertension     Heart disease
    Keratosis follicularis     Hailey-Hailey disease     Diabetes mellitus     Kidney disease
    Myopathy     Metabolic acidosis     Pthirus pubis infestation     Hypokalemia
    Neuropathy     Cancer     Hyperthyroidism     Cystic fibrosis
    Toxic encephalopathy     Hypothyroidism     Osteopetrosis     Peptic ulcer

    Find genes that share disorders with DNAH8           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DNAH8 gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atpase deficiency 71 7 15155867 (2), 19735676 (1), 19269308 (1), 14613325 (1) (see all 6)
    menkes disease 68.4 8 9451822 (1), 8991852 (1), 16603790 (1), 8206157 (1) (see all 8)
    spastic paraplegia hereditary 67.3 2 19619244 (1), 18410514 (1)
    spastic paraplegia hereditary autosomal dominant 63.7 3 15482961 (1), 12736085 (1), 17348041 (1)
    group b cockayne syndrome 62.2 3 10564257 (1), 10698517 (1), 11809892 (1)
    wilson disease 55.3 13 14709553 (1), 8527222 (1), 11874474 (1), 17634212 (1) (see all 12)
    werner syndrome 53.2 2 16503984 (1), 15037256 (1)
    inclusion body myopathy 51.5 2 16321991 (1), 16121806 (1)
    colchicine resistance 45.7 1 16750172 (1)
    myopathy, congenital 44.3 2 15699387 (1), 9845295 (1)

    Genetic Association Database (GAD): DNAH8
    Human Genome Epidemiology (HuGE) Navigator: DNAH8 (2 documents)

    Export disorders for DNAH8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DNAH8 gene, integrated from 10 sources (see all 1719):
    (articles sorted by number of sources associating them with DNAH8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PubMed id 9373155)1, 2, 3 Neesen J.... Schmid M. (Gene 1997)
    2. Human V-ATPase gene can protect or predispose the host to pulmonary tuberculosis. (PubMed id 19536151)1, 4 Capparelli R....Iannelli D. (Genes Immun. 2009)
    3. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1, 4 Ng D....Taylor P.R. (Int. J. Cancer 2008)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. The T complex distorter 2 candidate gene, Dnahc8, encodes at least two testis-specific axonemal dynein heavy chains that differ extensively at their amino and carboxyl termini. (PubMed id 12297094)1, 2 Samant S.A.... Pilder S.H. (Dev. Biol. 2002)
    6. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    7. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (Mol. Cell 2008)
    8. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (BMC Med. Genet. 2007)
    9. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    10. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1769 HGNC: 2952 AceView: DNAH8 Ensembl:ENSG00000124721 euGenes: HUgn1769
    ECgene: DNAH8 H-InvDB: DNAH8

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DNAH8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DNAH8 gene:
    Search GeneIP for patents involving DNAH8

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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