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Aliases for DNAAF2 Gene

Aliases for DNAAF2 Gene

  • Dynein, Axonemal, Assembly Factor 2 2 3
  • C14orf104 3 4 6
  • KTU 3 4 6
  • Dynein Assembly Factor 2, Axonemal 3 4
  • Kintoun 2 3
  • CILD10 3 6
  • Chromosome 14 Open Reading Frame 104 2
  • Protein Kintoun 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 dyskinesia10: dnaaf2-related 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

Genomic Location for DNAAF2 Gene

Start:
49,625,174 bp from pter
End:
49,635,230 bp from pter
Size:
10,057 bases
Orientation:
Minus strand

Genomic View for DNAAF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNAAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAAF2 Gene

No data available for Regulatory Elements for DNAAF2 Gene

Proteins for DNAAF2 Gene

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

    Protein Symbol:
    Q9NVR5-KTU_HUMAN
    Recommended name:
    Protein kintoun
    Protein Accession:
    Q9NVR5
    Secondary Accessions:
    • B9WS54
    • C0JAP7
    • Q86TR1
    • Q86TY8
    • Q969Z5

    Protein attributes for DNAAF2 Gene

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

    Alternative splice isoforms for DNAAF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAAF2 Gene

Proteomics data for DNAAF2 Gene at MOPED

Post-translational modifications for DNAAF2 Gene

  • Ubiquitination at Lys558
  • 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 for DNAAF2 Gene

Protein Domains for DNAAF2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAAF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NVR5

UniProtKB/Swiss-Prot:

KTU_HUMAN :
  • Q9NVR5
Family:
  • 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

Gene Ontology (GO) - Molecular Function for DNAAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23872636
genes like me logo Genes that share ontologies with DNAAF2: view
genes like me logo Genes that share phenotypes with DNAAF2: view

Animal Models for DNAAF2 Gene

MGI Knock Outs for DNAAF2:

miRNA for DNAAF2 Gene

miRTarBase miRNAs that target DNAAF2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for DNAAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19052621
genes like me logo Genes that share ontologies with DNAAF2: view

No data available for Subcellular locations from COMPARTMENTS for DNAAF2 Gene

Pathways 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:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0010033 response to organic substance --
GO:0032526 response to retinoic acid IEA --
GO:0060285 cilium-dependent cell motility IMP 19052621
GO:0070286 axonemal dynein complex assembly IMP 19052621
genes like me logo Genes that share ontologies with DNAAF2: view

No data available for Pathways by source for DNAAF2 Gene

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
SP1:
SP2: -

Relevant External Links for DNAAF2 Gene

GeneLoc Exon Structure for
DNAAF2
ECgene alternative splicing isoforms for
DNAAF2

Expression for DNAAF2 Gene

mRNA expression in normal human tissues for DNAAF2 Gene

Integrated Proteomics: protein expression 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 expressions with DNAAF2: view

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
chimpanzee
(Pan troglodytes)
Mammalia DNAAF2 35
  • 99.28 (n)
  • 98.92 (a)
DNAAF2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia bta-mir-6517 36
  • 74 (a)
OneToOne
DNAAF2 35
  • 81.91 (n)
  • 75.49 (a)
dog
(Canis familiaris)
Mammalia DNAAF2 35
  • 80.6 (n)
  • 68.66 (a)
DNAAF2 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnaaf2 35
  • 76.42 (n)
  • 67.25 (a)
Dnaaf2 16
Dnaaf2 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAAF2 36
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAAF2 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnaaf2 35
  • 76.27 (n)
  • 69.8 (a)
chicken
(Gallus gallus)
Aves DNAAF2 35
  • 49.49 (n)
  • 37.04 (a)
DNAAF2 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAAF2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnaaf2 35
  • 52.34 (n)
  • 44.05 (a)
zebrafish
(Danio rerio)
Actinopterygii dnaaf2 36
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nop17l 36
  • 23 (a)
OneToOne
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

ENSEMBL:
Gene Tree for DNAAF2 (if available)
TreeFam:
Gene Tree for DNAAF2 (if available)

Paralogs for DNAAF2 Gene

Selected 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 MAF
rs8952 -- 49,625,416(+) TTTTT(A/T)AAAAA utr-variant-3-prime
rs12160 -- 49,625,214(-) GTTAA(A/T)TTTTG utr-variant-3-prime
rs1952012 -- 49,632,178(-) GTAAC(A/T)GTTTT intron-variant
rs2147712 -- 49,624,966(-) TAGTA(C/T)TTTTC downstream-variant-500B
rs2209416 -- 49,630,182(-) GCGAT(C/T)ATGGC intron-variant

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

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

Relevant External Links for DNAAF2 Gene

HapMap Linkage Disequilibrium report
DNAAF2
Human Gene Mutation Database (HGMD)
DNAAF2

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

Disorders for DNAAF2 Gene

(1) OMIM Diseases for DNAAF2 Gene (612517)

UniProtKB/Swiss-Prot

KTU_HUMAN
  • 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.
genes like me logo Genes that share disorders with DNAAF2: view

Publications for DNAAF2 Gene

  1. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. (PMID: 19052621) Omran H. … Takeda H. (Nature 2008) 3 4
  5. DYX1C1 is required for axonemal dynein assembly and ciliary motility. (PMID: 23872636) Tarkar A. … Omran H. (Nat. Genet. 2013) 3 4

Products for DNAAF2 Gene

Sources for DNAAF2 Gene

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