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Aliases for DNAAF5 Gene

Aliases for DNAAF5 Gene

  • Dynein (Axonemal) Assembly Factor 5 2 3
  • Dynein, Axonemal, Assembly Factor 5 2 3 5
  • HEAT Repeat-Containing Protein 2 3 4
  • HEAT Repeat Containing 2 2 3
  • HEATR2 3 4
  • CILD18 3

External Ids for DNAAF5 Gene

Previous HGNC Symbols for DNAAF5 Gene

  • HEATR2

Summaries for DNAAF5 Gene

Entrez Gene Summary for DNAAF5 Gene

  • The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

GeneCards Summary for DNAAF5 Gene

DNAAF5 (Dynein (Axonemal) Assembly Factor 5) is a Protein Coding gene. Diseases associated with DNAAF5 include ciliary dyskinesia, primary, 18 and primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia. GO annotations related to this gene include binding and dynein intermediate chain binding.

UniProtKB/Swiss-Prot for DNAAF5 Gene

  • Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAAF5 Gene

Genomics for DNAAF5 Gene

Regulatory Elements for DNAAF5 Gene

Promoters for DNAAF5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAAF5 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAAF5 Gene

Chromosome:
7
Start:
726,701 bp from pter
End:
786,479 bp from pter
Size:
59,779 bases
Orientation:
Plus strand

Genomic View for DNAAF5 Gene

Genes around DNAAF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAAF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAAF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF5 Gene

Proteins for DNAAF5 Gene

  • Protein details for DNAAF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y56-DAAF5_HUMAN
    Recommended name:
    Dynein assembly factor 5, axonemal
    Protein Accession:
    Q86Y56
    Secondary Accessions:
    • Q69YL1
    • Q96FI9
    • Q9NX75

    Protein attributes for DNAAF5 Gene

    Size:
    855 amino acids
    Molecular mass:
    93521 Da
    Quaternary structure:
    • Interacts with DNAI2; probably involved in outer arm dynein assembly.
    SequenceCaution:
    • Sequence=AAH10850.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAAF5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF5 Gene

Proteomics data for DNAAF5 Gene at MOPED

Post-translational modifications for DNAAF5 Gene

  • Ubiquitination at Lys 43 and Lys 655
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAAF5 Gene

No data available for DME Specific Peptides for DNAAF5 Gene

Domains & Families for DNAAF5 Gene

Protein Domains for DNAAF5 Gene

Suggested Antigen Peptide Sequences for DNAAF5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86Y56

UniProtKB/Swiss-Prot:

DAAF5_HUMAN :
  • Belongs to the DNAAF5 family.
  • Contains 10 HEAT repeats.
Family:
  • Belongs to the DNAAF5 family.
Similarity:
  • Contains 10 HEAT repeats.
genes like me logo Genes that share domains with DNAAF5: view

No data available for Gene Families for DNAAF5 Gene

Function for DNAAF5 Gene

Molecular function for DNAAF5 Gene

UniProtKB/Swiss-Prot Function:
Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.
genes like me logo Genes that share phenotypes with DNAAF5: view

Human Phenotype Ontology for DNAAF5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAAF5 Gene

Localization for DNAAF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF5 Gene

Cytoplasm. Cytoplasmic granule. Note=Observed only in the cytoplasm of ciliated cells and absent from cilia. {ECO:0000269 PubMed:23040496, ECO:0000269 PubMed:25232951}.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for DNAAF5 Gene

Pathways & Interactions for DNAAF5 Gene

SuperPathways for DNAAF5 Gene

No Data Available

Interacting Proteins for DNAAF5 Gene

Gene Ontology (GO) - Biological Process for DNAAF5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DNAAF5 Gene

Drugs & Compounds for DNAAF5 Gene

No Compound Related Data Available

Transcripts for DNAAF5 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^
SP1: - - - - -
SP2: -
SP3:
SP4:
SP5: - -
SP6: -
SP7:
SP8: - -
SP9: - - -
SP10: - -
SP11: -

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DNAAF5 Gene

GeneLoc Exon Structure for
DNAAF5
ECgene alternative splicing isoforms for
DNAAF5

Expression for DNAAF5 Gene

mRNA expression in normal human tissues for DNAAF5 Gene

Protein differential expression in normal tissues from HIPED for DNAAF5 Gene

This gene is overexpressed in Bone (61.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAAF5 Gene



mRNA Expression by UniProt/SwissProt for DNAAF5 Gene

Q86Y56-DAAF5_HUMAN
Tissue specificity: Expressed in nasal epithelium and lung epithelium by ciliated cells (at protein level).
genes like me logo Genes that share expression patterns with DNAAF5: view

Protein tissue co-expression partners for DNAAF5 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DNAAF5 Gene

Orthologs for DNAAF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAAF5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HEATR2 35
  • 78.56 (n)
  • 75.36 (a)
HEATR2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEATR2 35
  • 79.83 (n)
  • 78.37 (a)
HEATR2 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Heatr2 35
  • 78.68 (n)
  • 77.82 (a)
Dnaaf5 16
Heatr2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Heatr2 35
  • 77.86 (n)
  • 77.42 (a)
oppossum
(Monodelphis domestica)
Mammalia HEATR2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEATR2 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEATR2 35
  • 63 (n)
  • 60.08 (a)
HEATR2 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEATR2 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr2 35
  • 60.35 (n)
  • 56.58 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333660 35
  • 59.97 (n)
  • 55.83 (a)
HEATR2 (1 of 2) 36
  • 50 (a)
OneToMany
HEATR2 (2 of 2) 36
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002100 35
  • 43.06 (n)
  • 31.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31320 35
  • 43.65 (n)
  • 31.29 (a)
CG31320 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2730 36
  • 40 (a)
OneToOne
Species with no ortholog for DNAAF5:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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 DNAAF5 Gene

ENSEMBL:
Gene Tree for DNAAF5 (if available)
TreeFam:
Gene Tree for DNAAF5 (if available)

Paralogs for DNAAF5 Gene

Pseudogenes.org Pseudogenes for DNAAF5 Gene

genes like me logo Genes that share paralogs with DNAAF5: view

No data available for Paralogs for DNAAF5 Gene

Variants for DNAAF5 Gene

Sequence variations from dbSNP and Humsavar for DNAAF5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs4720951 - 770,582(+) CACCG(C/T)GCTGC nc-transcript-variant, reference, missense
rs73258248 - 763,869(+) TCTAC(C/T)GCAAG nc-transcript-variant, reference, missense
rs3922641 - 775,151(+) CATCA(A/G)GATTT nc-transcript-variant, reference, missense
VAR_068969 Ciliary dyskinesia, primary, 18 (CILD18)
rs9195 -- 786,149(-) ATCTG(A/G)TAAGT nc-transcript-variant, utr-variant-3-prime

Variation tolerance for DNAAF5 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.15; 90.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAAF5 Gene

HapMap Linkage Disequilibrium report
DNAAF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DNAAF5 Gene

Disorders for DNAAF5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DNAAF5 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DAAF5_HUMAN
  • Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:23040496, ECO:0000269 PubMed:25232951}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAAF5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAAF5
genes like me logo Genes that share disorders with DNAAF5: view

No data available for Genatlas for DNAAF5 Gene

Publications for DNAAF5 Gene

  1. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. (PMID: 25232951) Diggle C.P. … Mill P. (PLoS Genet. 2014) 2 3 4 67
  2. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (PMID: 23040496) Horani A. … Ferkol T.W. (Am. J. Hum. Genet. 2012) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for DNAAF5 Gene

Sources for DNAAF5 Gene

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