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Aliases for DNAH7 Gene

Aliases for DNAH7 Gene

  • Dynein Axonemal Heavy Chain 7 2 3 5
  • Dynein, Axonemal, Heavy Polypeptide 7 2 3
  • Axonemal Beta Dynein Heavy Chain 7 3 4
  • Dynein Heavy Chain-Like Protein 2 3 4
  • Ciliary Dynein Heavy Chain 7 3 4
  • HDHC2 3 4
  • Dynein Heavy Chain 7, Axonemal 3
  • Axonemal Dynein Heavy Chain 7 3
  • KIAA0944 4

External Ids for DNAH7 Gene

Previous GeneCards Identifiers for DNAH7 Gene

  • GC02M194792
  • GC02M195315
  • GC02M196566
  • GC02M196804
  • GC02M196427
  • GC02M196310
  • GC02M196602
  • GC02M188455

Summaries for DNAH7 Gene

Entrez Gene Summary for DNAH7 Gene

  • DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAH7 Gene

DNAH7 (Dynein Axonemal Heavy Chain 7) is a Protein Coding gene. Diseases associated with DNAH7 include Papillary Craniopharyngioma and Adamantinous Craniopharyngioma. 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 calcium ion binding and microtubule motor activity. An important paralog of this gene is DNAH3.

UniProtKB/Swiss-Prot for DNAH7 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 DNAH7 Gene

Genomics for DNAH7 Gene

Regulatory Elements for DNAH7 Gene

Enhancers for DNAH7 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
GH02F196101 0.9 Ensembl ENCODE 39.4 -26.3 -26316 1.4 HDAC1 PKNOX1 CBX3 TBL1XR1 BMI1 CHAMP1 EGR1 CBX5 GATA2 CREM DNAH7 LOC100420572 ENSG00000272211
GH02F196105 0.9 FANTOM5 Ensembl 37 -30.9 -30915 1.0 MTA2 FEZF1 NFE2 ZNF843 DNAH7 LOC100420572 SLC39A10 ENSG00000272211
GH02F196031 0.3 FANTOM5 35.2 +43.0 43018 0.4 MNT DNAH7 LOC100420572 E2F3P2
GH02F196068 0.5 ENCODE 33.9 +6.5 6467 1.7 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 GLIS2 ELK1 DNAH7 SLC39A10 LOC100420572
GH02F196088 0.2 ENCODE 33.9 -13.2 -13186 0.2 SOX13 ZNF384 CEBPG THRB ZNF644 RARA TEAD3 ZFHX2 NR2F6 HOMEZ DNAH7 ENSG00000272211
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DNAH7 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAH7 Gene

Chromosome:
2
Start:
195,737,703 bp from pter
End:
196,075,186 bp from pter
Size:
337,484 bases
Orientation:
Minus strand

Genomic View for DNAH7 Gene

Genes around DNAH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH7 Gene

Proteins for DNAH7 Gene

  • Protein details for DNAH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXX0-DYH7_HUMAN
    Recommended name:
    Dynein heavy chain 7, axonemal
    Protein Accession:
    Q8WXX0
    Secondary Accessions:
    • B8ZZX8
    • O00433
    • O95492
    • Q4G152
    • Q53QX7
    • Q53S64
    • Q53T02
    • Q68CY5
    • Q8N1Z2
    • Q9UMS3
    • Q9Y2F3

    Protein attributes for DNAH7 Gene

    Size:
    4024 amino acids
    Molecular mass:
    461159 Da
    Quaternary structure:
    • The dynein complex consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=BAA76788.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB06055.1; Type=Frameshift; Positions=1502; Evidence={ECO:0000305}; Sequence=CAH18445.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH18445.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH7 Gene

Post-translational modifications for DNAH7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAH7 Gene

Domains & Families for DNAH7 Gene

Gene Families for DNAH7 Gene

Suggested Antigen Peptide Sequences for DNAH7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXX0

UniProtKB/Swiss-Prot:

DYH7_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 DNAH7: view

Function for DNAH7 Gene

Molecular function for DNAH7 Gene

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).
UniProtKB/Swiss-Prot Induction:
Up-regulated during ciliogenesis (at protein level).

Gene Ontology (GO) - Molecular Function for DNAH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity NAS 9373155
GO:0005509 calcium ion binding IEA --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH7: view
genes like me logo Genes that share phenotypes with DNAH7: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAH7 Gene

Localization for DNAH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH7 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAH7 Gene COMPARTMENTS Subcellular localization image for DNAH7 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for DNAH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex NAS 9373155
GO:0005874 microtubule IEA --
GO:0005929 cilium IDA 11877439
genes like me logo Genes that share ontologies with DNAH7: view

Pathways & Interactions for DNAH7 Gene

genes like me logo Genes that share pathways with DNAH7: view

Pathways by source for DNAH7 Gene

1 KEGG pathway for DNAH7 Gene

Gene Ontology (GO) - Biological Process for DNAH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 11877439
GO:0007018 microtubule-based movement IEA --
GO:0036159 inner dynein arm assembly IMP 11877439
GO:0060285 cilium-dependent cell motility NAS 9373155
genes like me logo Genes that share ontologies with DNAH7: view

No data available for SIGNOR curated interactions for DNAH7 Gene

Transcripts for DNAH7 Gene

Unigene Clusters for DNAH7 Gene

Dynein, axonemal, heavy chain 7:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH7 Gene

No ASD Table

Relevant External Links for DNAH7 Gene

GeneLoc Exon Structure for
DNAH7
ECgene alternative splicing isoforms for
DNAH7

Expression for DNAH7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAH7 Gene

This gene is overexpressed in Testis (x5.0), Pituitary (x4.6), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for DNAH7 Gene

This gene is overexpressed in Bone marrow stromal cell (32.0), Bone marrow mesenchymal stem cell (20.9), and Placenta (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH7 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAH7 Gene:

DNAH7

SOURCE GeneReport for Unigene cluster for DNAH7 Gene:

Hs.97403

mRNA Expression by UniProt/SwissProt for DNAH7 Gene:

Q8WXX0-DYH7_HUMAN
Tissue specificity: Detected in brain, testis and trachea. Detected in bronchial cells (at protein level).
genes like me logo Genes that share expression patterns with DNAH7: view

Primer Products

No data available for Protein tissue co-expression partners for DNAH7 Gene

Orthologs for DNAH7 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAH7 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia DNAH7 34 35
  • 90.53 (n)
dog
(Canis familiaris)
Mammalia DNAH7 34 35
  • 89.4 (n)
mouse
(Mus musculus)
Mammalia Dnah7a 35
  • 89 (a)
OneToMany
Dnah7b 34 35
  • 85.08 (n)
Dnah7c 16
rat
(Rattus norvegicus)
Mammalia Dnah7 34
  • 85.96 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH7 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH7 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAH7 34 35
  • 75.52 (n)
lizard
(Anolis carolinensis)
Reptilia DNAH7 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah7 34
  • 74.25 (n)
zebrafish
(Danio rerio)
Actinopterygii dnah7 34 35
  • 68.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dhc36C 36 34 35
  • 56.92 (n)
Dhc62B 36
  • 42 (a)
Dhc16F 36
  • 36 (a)
kl-2 36
  • 34 (a)
Dhc64C 36
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009568 34
  • 51.18 (n)
worm
(Caenorhabditis elegans)
Secernentea dhc-1 36
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 70 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5 34
Species where no ortholog for DNAH7 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)
  • 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)

Evolution for DNAH7 Gene

ENSEMBL:
Gene Tree for DNAH7 (if available)
TreeFam:
Gene Tree for DNAH7 (if available)

Paralogs for DNAH7 Gene

(11) SIMAP similar genes for DNAH7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DNAH7: view

Variants for DNAH7 Gene

Sequence variations from dbSNP and Humsavar for DNAH7 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10165463 -- 195,978,781(+) cacgt(A/G)tatca intron-variant
rs10165833 -- 196,016,940(+) AAATA(C/T)ATACA intron-variant
rs10166914 -- 195,930,939(+) aatac(C/T)acacg intron-variant
rs10166940 -- 195,951,898(+) gtctg(C/T)gtctt intron-variant
rs10167051 -- 195,952,000(+) cccat(G/T)agttg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNAH7 Gene

Variant ID Type Subtype PubMed ID
dgv2124n106 CNV deletion 24896259
esv2215403 CNV deletion 18987734
esv2233474 CNV deletion 18987734
esv2489659 CNV deletion 19546169
esv2580785 CNV deletion 19546169
esv2662087 CNV deletion 23128226
esv2667726 CNV deletion 23128226
esv2721331 CNV deletion 23290073
esv2721332 CNV deletion 23290073
esv2721333 CNV deletion 23290073
esv2721334 CNV deletion 23290073
esv3418 CNV loss 18987735
esv3438230 CNV insertion 20981092
esv3560778 CNV deletion 23714750
esv3593875 CNV loss 21293372
esv3593876 CNV loss 21293372
nsv1136460 CNV deletion 24896259
nsv1153338 CNV deletion 26484159
nsv214751 CNV deletion 16902084
nsv3094 CNV deletion 18451855
nsv584151 CNV loss 21841781
nsv584152 CNV loss 21841781
nsv819804 CNV loss 19587683
nsv820276 CNV loss 19587683
nsv834501 CNV gain 17160897
nsv997838 CNV loss 25217958

Variation tolerance for DNAH7 Gene

Residual Variation Intolerance Score: 92.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.77; 97.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAH7 Gene

Human Gene Mutation Database (HGMD)
DNAH7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH7 Gene

Disorders for DNAH7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DNAH7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
papillary craniopharyngioma
  • craniopharyngioma, papillary
adamantinous craniopharyngioma
  • adamantinous rathke's pouch tumor
central nervous system organ benign neoplasm
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards
Search DNAH7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DNAH7

Genetic Association Database (GAD)
DNAH7
Human Genome Epidemiology (HuGE) Navigator
DNAH7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH7
genes like me logo Genes that share disorders with DNAH7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH7 Gene

Publications for DNAH7 Gene

  1. Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia. (PMID: 11877439) Zhang Y.J. … Ostrowski L.E. (J. Biol. Chem. 2002) 2 3 4 64
  2. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PMID: 9373155) Neesen J. … Schmid M. (Gene 1997) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 3 4 64

Products for DNAH7 Gene

Sources for DNAH7 Gene

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