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Aliases for DNAH6 Gene

Aliases for DNAH6 Gene

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

  • This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G084456 1.1 ENCODE 43 +0.3 251 6.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 DNAH6 SUCLG1
GH02G084805 1.4 FANTOM5 Ensembl ENCODE 9.8 +347.7 347654 3.3 TBP NFIB ZSCAN4 FEZF1 RAD21 BRCA1 RFX5 SCRT2 SMARCC2 RCOR1 DNAH6 TRABD2A GC02P084793 ENSG00000276362
GH02G084842 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +386.1 386077 5.5 STAT1 NFE2 ATF2 TRABD2A RPS2P17 DNAH6 RN7SL113P ENSG00000276362 GC02P084793
GH02G084829 1.4 Ensembl ENCODE dbSUPER 9.5 +372.4 372415 4.7 HDGF ZSCAN4 ZBTB40 RAD21 ZNF766 RELB IKZF2 CREM CEBPB USF2 DNAH6 TRABD2A ENSG00000276362 GC02P084793
GH02G084837 1.3 FANTOM5 ENCODE dbSUPER 9.5 +379.4 379364 2.5 CTCF FOXA2 ZNF175 MAX SIN3A ZNF48 ZIC2 RAD21 YY1 TEAD3 DNAH6 TRABD2A ENSG00000276362 GC02P084793
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for DNAH6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0005524 ATP binding IEA --
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

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAH6 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 3
plasma membrane 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for DNAH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex IEA --
GO:0005874 microtubule IEA --
GO:0005929 cilium 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 --
GO:0007018 microtubule-based movement 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

(15) 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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of DNAH6 Gene:

DNAH6

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.

Evidence on tissue expression from TISSUES for DNAH6 Gene

  • Kidney(4.1)
  • Lung(4.1)
  • Nervous system(4.1)
  • Lymph node(4)
genes like me logo Genes that share expression patterns with DNAH6: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia DNAH6 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia DNAH6 34 35
  • 89.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dnah6 34 16 35
  • 84.11 (n)
rat
(Rattus norvegicus)
Mammalia Dnah6 34
  • 83.86 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH6 35
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNAH6 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAH6 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah6 34
  • 73.01 (n)
zebrafish
(Danio rerio)
Actinopterygii dnah7l 35
  • 70 (a)
OneToOne
dnah6 34
  • 67.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003226 34
  • 52 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dhc16F 34 35
  • 51.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for DNAH6 was found in the sources mined by GeneCards:
  • 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
rs786205871 Pathogenic 84,459,170(-) TCCGT(A/C/G)AGTCC intron-variant, upstream-variant-2KB
rs796052053 Likely pathogenic 84,459,230(-) CTACC(A/G)TGGTC upstream-variant-2KB, reference, missense
rs12621740 Likely benign 84,459,402(+) TGGCA(A/G)GTGAA upstream-variant-2KB, utr-variant-5-prime
rs140936198 Uncertain significance 84,459,376(+) GAGGA(C/T)TCTTC upstream-variant-2KB, utr-variant-5-prime
rs143151382 Uncertain significance 84,459,455(+) TCCTT(C/T)CTAGA upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv1942n106 CNV deletion 24896259
esv1671026 CNV deletion 17803354
esv2076728 CNV deletion 18987734
esv2605698 CNV deletion 19546169
esv2671860 CNV deletion 23128226
esv2677409 CNV deletion 23128226
esv2720283 CNV deletion 23290073
esv2720285 CNV deletion 23290073
esv2759072 CNV loss 17122850
esv3559654 CNV deletion 23714750
esv3559665 CNV deletion 23714750
esv3559678 CNV deletion 23714750
esv3583912 CNV loss 25503493
esv3591517 CNV loss 21293372
esv3591518 CNV loss 21293372
esv3591519 CNV loss 21293372
esv4558 CNV loss 18987735
esv5791 CNV loss 19470904
esv996990 CNV deletion 20482838
nsv1013547 CNV gain 25217958
nsv1014971 CNV loss 25217958
nsv1072952 CNV deletion 25765185
nsv1111187 CNV tandem duplication 24896259
nsv1127738 CNV deletion 24896259
nsv1131475 CNV deletion 24896259
nsv1146740 CNV deletion 26484159
nsv213267 CNV deletion 16902084
nsv214047 CNV deletion 16902084
nsv2808 CNV deletion 18451855
nsv473758 CNV novel sequence insertion 20440878
nsv478299 CNV novel sequence insertion 20440878
nsv523412 CNV loss 19592680
nsv834278 CNV gain 17160897
nsv956641 CNV deletion 24416366
nsv979030 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • ciliary motility disorder
- 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes. (PMID: 11175280) Maiti A.K. … Bouvagnet P. (Eur. J. Hum. Genet. 2000) 3 4 64
  4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64
  5. DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. (PMID: 26918822) Li Y. … Lo C.W. (PLoS Genet. 2016) 3 64

Products for DNAH6 Gene

Sources for DNAH6 Gene

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