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Aliases for DNAAF2 Gene

Aliases for DNAAF2 Gene

  • Dynein (Axonemal) Assembly Factor 2 2 3
  • Dynein, Axonemal, Assembly Factor 2 2 3 5
  • Dynein Assembly Factor 2, Axonemal 3 4
  • C14orf104 3 4
  • Kintoun 2 3
  • KTU 3 4
  • Chromosome 14 Open Reading Frame 104 2
  • CILD10 3
  • PF13 3

External Ids for DNAAF2 Gene

Previous HGNC Symbols for DNAAF2 Gene

  • C14orf104

Previous GeneCards Identifiers for DNAAF2 Gene

  • GC14M050092

Summaries for DNAAF2 Gene

Entrez Gene Summary for DNAAF2 Gene

  • This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

GeneCards Summary for DNAAF2 Gene

DNAAF2 (Dynein (Axonemal) Assembly Factor 2) is a Protein Coding gene. Diseases associated with DNAAF2 include ciliary dyskinesia, primary, 10 and primary ciliary dyskinesia.

UniProtKB/Swiss-Prot for DNAAF2 Gene

  • Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.

Gene Wiki entry for DNAAF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAAF2 Gene

Genomics for DNAAF2 Gene

Regulatory Elements for DNAAF2 Gene

Promoters for DNAAF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAAF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAAF2 Gene

49,625,174 bp from pter
49,635,230 bp from pter
10,057 bases
Minus strand

Genomic View for DNAAF2 Gene

Genes around DNAAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF2 Gene

Proteins for DNAAF2 Gene

  • Protein details for DNAAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein kintoun
    Protein Accession:
    Secondary Accessions:
    • B9WS54
    • C0JAP7
    • Q86TR1
    • Q86TY8
    • Q969Z5

    Protein attributes for DNAAF2 Gene

    837 amino acids
    Molecular mass:
    91114 Da
    Quaternary structure:
    • Interacts with DNAI2 and HSPA1A (By similarity). Interacts with DYX1C1.
    • Sequence=BAA91684.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD66572.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAAF2 Gene


neXtProt entry for DNAAF2 Gene

Proteomics data for DNAAF2 Gene at MOPED

Post-translational modifications for DNAAF2 Gene

  • Ubiquitination at Lys 558
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAAF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAAF2 Gene

Domains & Families for DNAAF2 Gene

Protein Domains for DNAAF2 Gene


Suggested Antigen Peptide Sequences for DNAAF2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PIH1 family. Kintoun subfamily.
  • Belongs to the PIH1 family. Kintoun subfamily.
genes like me logo Genes that share domains with DNAAF2: view

No data available for Gene Families for DNAAF2 Gene

Function for DNAAF2 Gene

Molecular function for DNAAF2 Gene

UniProtKB/Swiss-Prot Function:
Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.
genes like me logo Genes that share phenotypes with DNAAF2: view

Human Phenotype Ontology for DNAAF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAAF2 Gene

MGI Knock Outs for DNAAF2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DNAAF2 Gene

Localization for DNAAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAAF2 Gene

Cytoplasm. Note=Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia.

Subcellular locations from

Jensen Localization Image for DNAAF2 Gene COMPARTMENTS Subcellular localization image for DNAAF2 gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for DNAAF2 Gene

Pathways & Interactions for DNAAF2 Gene

SuperPathways for DNAAF2 Gene

No Data Available

Interacting Proteins for DNAAF2 Gene

Gene Ontology (GO) - Biological Process for DNAAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010033 response to organic substance IEA --
GO:0032526 response to retinoic acid IEA --
GO:0060285 cilium-dependent cell motility IMP 19052621
GO:0070286 axonemal dynein complex assembly IMP 19052621
GO:0071973 bacterial-type flagellum-dependent cell motility IMP 19052621
genes like me logo Genes that share ontologies with DNAAF2: view

No data available for Pathways by source and SIGNOR curated interactions for DNAAF2 Gene

Drugs & Compounds for DNAAF2 Gene

No Compound Related Data Available

Transcripts for DNAAF2 Gene

mRNA/cDNA for DNAAF2 Gene

Unigene Clusters for DNAAF2 Gene

Dynein, axonemal, assembly factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3
SP2: -

Relevant External Links for DNAAF2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DNAAF2 Gene

mRNA expression in normal human tissues for DNAAF2 Gene

Protein differential expression in normal tissues from HIPED for DNAAF2 Gene

This gene is overexpressed in Testis (67.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAAF2 Gene

SOURCE GeneReport for Unigene cluster for DNAAF2 Gene Hs.231761

genes like me logo Genes that share expression patterns with DNAAF2: view

Protein tissue co-expression partners for DNAAF2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DNAAF2 Gene

Orthologs for DNAAF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAAF2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DNAAF2 35
  • 81.91 (n)
  • 75.49 (a)
bta-mir-6517 36
  • 74 (a)
(Canis familiaris)
Mammalia DNAAF2 35
  • 80.6 (n)
  • 68.66 (a)
  • 74 (a)
(Mus musculus)
Mammalia Dnaaf2 35
  • 76.42 (n)
  • 67.25 (a)
Dnaaf2 16
Dnaaf2 36
  • 66 (a)
(Pan troglodytes)
Mammalia DNAAF2 35
  • 99.28 (n)
  • 98.92 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Dnaaf2 35
  • 76.27 (n)
  • 69.8 (a)
(Monodelphis domestica)
Mammalia DNAAF2 36
  • 47 (a)
(Ornithorhynchus anatinus)
Mammalia DNAAF2 36
  • 44 (a)
(Gallus gallus)
Aves DNAAF2 35
  • 49.49 (n)
  • 37.04 (a)
  • 35 (a)
(Anolis carolinensis)
Reptilia DNAAF2 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dnaaf2 35
  • 52.34 (n)
  • 44.05 (a)
(Danio rerio)
Actinopterygii dnaaf2 36
  • 28 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nop17l 36
  • 23 (a)
Species with no ortholog for DNAAF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 DNAAF2 Gene

Gene Tree for DNAAF2 (if available)
Gene Tree for DNAAF2 (if available)

Paralogs for DNAAF2 Gene

(1) SIMAP similar genes for DNAAF2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DNAAF2: view

No data available for Paralogs for DNAAF2 Gene

Variants for DNAAF2 Gene

Sequence variations from dbSNP and Humsavar for DNAAF2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs9989177 - 49,625,753(+) AGTTA(C/T)CTTTT reference, missense
rs2985684 - 49,634,964(-) CGTGA(A/C/G)CGCGG reference, missense
rs8952 -- 49,625,416(+) TTTTT(A/T)AAAAA utr-variant-3-prime
rs12160 -- 49,625,214(-) GTTAA(A/T)TTTTG utr-variant-3-prime
rs2147712 -- 49,624,966(-) TAGTA(C/T)TTTTC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DNAAF2 Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV Gain+Loss 19812545

Variation tolerance for DNAAF2 Gene

Residual Variation Intolerance Score: 89.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.56; 96.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAAF2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAAF2 Gene

Disorders for DNAAF2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DNAAF2 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 10
  • ics10
primary ciliary dyskinesia
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia
  • primary ciliary dyskinesia10: ktu-related primary ciliary dyskinesia
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Ciliary dyskinesia, primary, 10 (CILD10) [MIM:612518]: 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:19052621, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAAF2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DNAAF2: view

No data available for Genatlas for DNAAF2 Gene

Publications for DNAAF2 Gene

  1. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A. … Omran H. (Nat. Genet. 2013) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M. … Lindquist S. (Cell 2014) 3
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  5. Image-based genome-wide siRNA screen identifies selective autophagy factors. (PMID: 22020285) Orvedahl A. … Levine B. (Nature 2011) 3

Products for DNAAF2 Gene

Sources for DNAAF2 Gene

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