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

DNAH8 Gene

protein-coding   GIFtS: 55
GCID: GC06P038685

Dynein, Axonemal, Heavy Chain 8

(Previous names: dynein, axonemal, heavy polypeptide 8)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 breast adenoma, and maternally inherited leigh syndrome, 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: 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DNAH8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96JB1

  • DNAH8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DNAH8 Protein Expression
    REFSEQ proteins: NP_001193856.1  
    ENSEMBL proteins: 
     ENSP00000415331   ENSP00000362375   ENSP00000333363   ENSP00000352312   ENSP00000377916  
     ENSP00000402294  

    Human Recombinant Protein Products for DNAH8: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DNAH8 

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

    DNAH8 for ontologies           About GeneDecksing



    DNAH8 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for DNAH8 

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    (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 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


    DNAH8 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: 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 (GO ID links to tree view):    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 ----
         
    DNAH8 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DNAH8 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNAH8 
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    hsa-miR-651
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    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 DNAH8 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 DNAH8
        Cytoplasmic microtubules




    DNAH8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAH8

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

    5/36 Interacting proteins for DNAH8 (Q96JB13 ENSP000003523124) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    DNAH1ENSP000004015144STRING: ENSP00000401514
    DNAH17ENSP000003744904STRING: ENSP00000374490
    DNAH2ENSP000003738254STRING: ENSP00000373825
    DNAH7ENSP000003112734STRING: ENSP00000311273
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539ciliary or bacterial-type flagellar motility NAS9373155
    GO:0007018microtubule-based movement IEA--

    DNAH8 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

    DNAH8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNAH8 (DYH8)

    10/143 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)

    Search CenterWatch for drugs/clinical trials and news about DNAH8 / DYH8

    (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 DNAH8 gene (2 alternative transcripts): 
    NM_001371.2  NM_001206927.1  

    Unigene Clusters for DNAH8:

    Dynein, axonemal, heavy chain 8
    Hs.520106  [show with all ESTs], Hs.686107
    Unigene Representative Sequences: NM_001206927, AF527623
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000449981 ENST00000373278 ENST00000327475(uc021yzh.1 uc003ooe.2)
    ENST00000359357 ENST00000394393 ENST00000441566(uc003oog.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate DNAH8:
    hsa-miR-651
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    Inhib. RNA
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    Additional mRNA sequence: AF527623.1 

    4 DOTS entries:

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

    24/29 AceView cDNA sequences (see all 29):

    AF356519 AF527621 AL042677 NM_001371 CF147472 AK098716 AL042262 BF221813 
    BV171164 AX748244 AF527622 AI805281 BP371563 AJ132091 AX748124 AK093653 
    AL042676 AK093434 AI269674 AW270168 AI829624 BF985394 AW503176 CF139576 

    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™, 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

    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


    See DNAH8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAH8

    SOURCE GeneReport for Unigene clusters: Hs.520106 Hs.686107
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DNAH8 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnahc81 , 5 dynein, axonemal, heavy chain 81, 5 83.21(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_003640946.1  XP_003640994.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNAH86
    --
    Uncharacterized protein
    88(a)
    82(a)
    1 ↔ 1
    possible ortholog
    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
    60.63(n)1
    61.51(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)
    About This Section
    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

    DNAH8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) 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

    10/6213 SNPs in DNAH8 are shown (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) 10/23 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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603337    OMIM disorders: --

    20/133 diseases for DNAH8 (see all 133):    About MalaCards
    breast adenoma    maternally inherited leigh syndrome    torsion dystonia    myopathy congenital
    galactosialidosis    renal tubular acidosis    parametritis    restrictive cardiomyopathy
    malignant hypertension    hepatitic c virus    giardiasis    endolymphatic hydrops
    pernicious anemia    menkes disease    hemiplegic migraine    zollinger-ellison syndrome
    gastroesophageal reflux disease    hailey-hailey disease    wilson disease    peroxisome biogenesis disorders

    20/27 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

    DNAH8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/93 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)
    About This Section

    PubMed articles for DNAH8 gene, integrated from 9 sources (see all 1718):
    (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. (1997)
    2. Human V-ATPase gene can protect or predispose the hos t to pulmonary tuberculosis. (PubMed id 19536151)1, 4 Capparelli R....Iannelli D. (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. (2008)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (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. (2002)
    6. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
    7. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (2007)
    8. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
    9. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)

    (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)

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

    (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 DNAH8 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 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



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