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Aliases for DNAH6 Gene

Aliases for DNAH6 Gene

  • Dynein Axonemal Heavy Chain 6 2 3
  • Dynein, Axonemal, Heavy Polypeptide 6 2 3
  • Axonemal Beta Dynein Heavy Chain 6 3 4
  • Dynein, Axonemal, Heavy Chain 6 3 5
  • Ciliary Dynein Heavy Chain 6 3 4
  • Dynein Heavy Chain-Like 1 2 3
  • Dnahc6 3 4
  • DNHL1 3 4
  • HL2 3 4
  • KIAA1697 4
  • HL-2 3

External Ids for DNAH6 Gene

Previous HGNC Symbols for DNAH6 Gene

  • DNHL1

Previous GeneCards Identifiers for DNAH6 Gene

  • GC02P084833
  • GC06U900022
  • GC02P084827
  • GC02P084828
  • GC02P084763
  • GC02P084598
  • GC02P084518

Summaries for DNAH6 Gene

Entrez Gene Summary for DNAH6 Gene

  • Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH6 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAH6 Gene

DNAH6 (Dynein Axonemal Heavy Chain 6) is a Protein Coding gene. Diseases associated with DNAH6 include Primary Ciliary Dyskinesia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH1.

UniProtKB/Swiss-Prot for DNAH6 Gene

  • 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 (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH6 Gene

Genomics for DNAH6 Gene

Regulatory Elements for DNAH6 Gene

Enhancers for DNAH6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNAH6 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAH6 Gene

Chromosome:
2
Start:
84,459,540 bp from pter
End:
84,819,589 bp from pter
Size:
360,050 bases
Orientation:
Plus strand

Genomic View for DNAH6 Gene

Genes around DNAH6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH6 Gene

Proteins for DNAH6 Gene

  • Protein details for DNAH6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0G6-DYH6_HUMAN
    Recommended name:
    Dynein heavy chain 6, axonemal
    Protein Accession:
    Q9C0G6
    Secondary Accessions:
    • A0PJN9
    • B5MEE0
    • B7ZL99
    • O95493
    • Q53QZ1
    • Q53TE5
    • Q8N1W6
    • Q92861
    • Q96BL6
    • Q9H030
    • Q9H5E1

    Protein attributes for DNAH6 Gene

    Size:
    4158 amino acids
    Molecular mass:
    475983 Da
    Quaternary structure:
    • The dynein complex consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=AAH15442.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAX93115.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB15685.1; Type=Frameshift; Positions=3690; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH6 Gene

Proteomics data for DNAH6 Gene at MOPED

Post-translational modifications for DNAH6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAH6 Gene

Domains & Families for DNAH6 Gene

Gene Families for DNAH6 Gene

Suggested Antigen Peptide Sequences for DNAH6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0G6

UniProtKB/Swiss-Prot:

DYH6_HUMAN :
  • 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 (By similarity).
  • Belongs to the dynein heavy chain family.
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 (By similarity).
Family:
  • Belongs to the dynein heavy chain family.
genes like me logo Genes that share domains with DNAH6: view

Function for DNAH6 Gene

Molecular function for DNAH6 Gene

GENATLAS Biochemistry:
dynein,axonemal,motor protein interacting with microtubules,heavy chain 6,involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus,with ATPase activity
UniProtKB/Swiss-Prot 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 (By similarity).

Gene Ontology (GO) - Molecular Function for DNAH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH6: view

Phenotypes for DNAH6 Gene

genes like me logo Genes that share phenotypes with DNAH6: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAH6 Gene

Localization for DNAH6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH6 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAH6 Gene COMPARTMENTS Subcellular localization image for DNAH6 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 3
mitochondrion 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for DNAH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030286 dynein complex IEA --
genes like me logo Genes that share ontologies with DNAH6: view

Pathways & Interactions for DNAH6 Gene

genes like me logo Genes that share pathways with DNAH6: view

Pathways by source for DNAH6 Gene

1 KEGG pathway for DNAH6 Gene

Interacting Proteins for DNAH6 Gene

Gene Ontology (GO) - Biological Process for DNAH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001539 cilium or flagellum-dependent cell motility IEA --
genes like me logo Genes that share ontologies with DNAH6: view

No data available for SIGNOR curated interactions for DNAH6 Gene

Drugs & Compounds for DNAH6 Gene

No Compound Related Data Available

Transcripts for DNAH6 Gene

mRNA/cDNA for DNAH6 Gene

(16) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNAH6 Gene

Dynein, axonemal, heavy chain 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH6 Gene

No ASD Table

Relevant External Links for DNAH6 Gene

GeneLoc Exon Structure for
DNAH6
ECgene alternative splicing isoforms for
DNAH6

Expression for DNAH6 Gene

mRNA expression in normal human tissues for DNAH6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAH6 Gene

This gene is overexpressed in Testis (x5.7) and Brain - Nucleus accumbens (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for DNAH6 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (30.0), Plasma (12.8), and Spinal cord (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH6 Gene



SOURCE GeneReport for Unigene cluster for DNAH6 Gene Hs.249972

mRNA Expression by UniProt/SwissProt for DNAH6 Gene

Q9C0G6-DYH6_HUMAN
Tissue specificity: Detected in brain, testis and trachea.
genes like me logo Genes that share expression patterns with DNAH6: view

Primer Products

No data available for Protein tissue co-expression partners for DNAH6 Gene

Orthologs for DNAH6 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH6 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia DNAH6 35
  • 89.92 (n)
  • 90.92 (a)
DNAH6 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah6 35
  • 84.11 (n)
  • 88.8 (a)
Dnah6 16
Dnah6 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAH6 35
  • 99.33 (n)
  • 98.94 (a)
DNAH6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnah6 35
  • 83.86 (n)
  • 88.41 (a)
cow
(Bos Taurus)
Mammalia DNAH6 36
  • 35 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAH6 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia DNAH6 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah6 35
  • 73.01 (n)
  • 78.01 (a)
zebrafish
(Danio rerio)
Actinopterygii dnah6 35
  • 67.44 (n)
  • 71.69 (a)
dnah7l 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003226 35
  • 52 (n)
  • 49.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dhc16F 35
  • 51.27 (n)
  • 47.15 (a)
Dhc16F 36
  • 45 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for DNAH6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAH6 Gene

ENSEMBL:
Gene Tree for DNAH6 (if available)
TreeFam:
Gene Tree for DNAH6 (if available)

Paralogs for DNAH6 Gene

(15) SIMAP similar genes for DNAH6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DNAH6: view

Variants for DNAH6 Gene

Sequence variations from dbSNP and Humsavar for DNAH6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs723134 -- 84,742,136(-) TATTG(C/T)GTGCT intron-variant
rs725005 -- 84,524,895(+) TCTTC(A/C)GTGAG intron-variant, upstream-variant-2KB
rs1559960 -- 84,711,028(-) AAGCT(A/T)TTGAG intron-variant
rs1563895 -- 84,590,590(-) ttcat(A/G)ctctg intron-variant
rs754273 -- 84,796,430(+) GGTGA(A/G)TGACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNAH6 Gene

Variant ID Type Subtype PubMed ID
nsv874455 CNV Loss 21882294
dgv1213e1 CNV Complex 17122850
esv2605698 CNV Deletion 19546169
esv2076728 CNV Deletion 18987734
esv2720283 CNV Deletion 23290073
esv4558 CNV Deletion 18987735
esv5791 CNV Loss 19470904
nsv213267 CNV Loss 16902084
esv1671026 CNV Deletion 17803354
nsv2808 CNV Loss 18451855
esv2720285 CNV Deletion 23290073
esv2677409 CNV Deletion 23128226
esv2671860 CNV Deletion 23128226
nsv214047 CNV Loss 16902084
nsv834278 CNV Gain 17160897
esv996990 CNV Deletion 20482838
dgv4201n71 CNV Loss 21882294
nsv523412 CNV Loss 19592680

Variation tolerance for DNAH6 Gene

Gene Damage Index Score: 9.66; 89.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAH6 Gene

Human Gene Mutation Database (HGMD)
DNAH6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH6 Gene

Disorders for DNAH6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAH6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DNAH6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DNAH6

Genetic Association Database (GAD)
DNAH6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH6
genes like me logo Genes that share disorders with DNAH6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH6 Gene

Publications for DNAH6 Gene

  1. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan K.T. … Vallee R.B. (Genomics 1996) 2 3 4 67
  2. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3
  3. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner B.L. … Wichterle H. (PLoS ONE 2015) 3
  4. DSSylation, a novel protein modification targets proteins induced by oxidative stress, and facilitates their degradation in cells. (PMID: 24515614) Zhang Y. … Wei S.J. (Protein Cell 2014) 3
  5. Genome-wide association analyses identify variants in developmental genes associated with hypospadias. (PMID: 25108383) Geller F. … Melbye M. (Nat. Genet. 2014) 3

Products for DNAH6 Gene

Sources for DNAH6 Gene

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