Human Gene DNAAF2 (uc001wws.4) Description and Page Index
  Description: Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA.
RefSeq Summary (NM_018139): 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].
Transcript (Including UTRs)
   Position: hg19 chr14:50,091,892-50,101,948 Size: 10,057 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr14:50,092,260-50,101,867 Size: 9,608 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr14:50,091,892-50,101,948)mRNA (may differ from genome)Protein (837 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein kintoun; AltName: Full=Dynein assembly factor 2, axonemal;
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.
SUBUNIT: Interacts with DNAI2 and HSPA1A (By similarity).
SUBCELLULAR LOCATION: Cytoplasm. Note=Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia.
DISEASE: Defects in DNAAF2 are the cause of primary ciliary dyskinesia type 10 (CILD10) [MIM:612518]. CILD is an autosomal recessive disorder characterized by axonemal 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
SIMILARITY: Belongs to the PIH1 family. Kintoun subfamily.
SEQUENCE CAUTION: Sequence=BAA91684.1; Type=Erroneous initiation; Sequence=CAD66572.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: DNAAF2
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 10* (919), kartagener syndrome* (209), primary ciliary dyskinesia* (158), primary ciliary dyskinesia 10: dnaaf2-related primary ciliary dyskinesia* (100), ciliary dyskinesia, primary, 1, with or without situs inversus* (74)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.49 RPKM in Testis
Total median expression: 147.84 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.2081-0.299 Picture PostScript Text
3' UTR -70.89368-0.193 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012981 - PIH

Pfam Domains:
PF08190 - pre-RNA processing PIH1/Nop17

ModBase Predicted Comparative 3D Structure on Q9NVR5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0060285 cilium-dependent cell motility
GO:0070286 axonemal dynein complex assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  BC011400 - Homo sapiens chromosome 14 open reading frame 104, mRNA (cDNA clone IMAGE:3853999), partial cds.
AK001425 - Homo sapiens cDNA FLJ10563 fis, clone NT2RP2002769.
BC013322 - Homo sapiens chromosome 14 open reading frame 104, mRNA (cDNA clone IMAGE:4077631), partial cds.
BX248264 - human full-length cDNA clone CS0DB001YJ05 of Neuroblastoma of Homo sapiens (human).
FJ158843 - Homo sapiens kintoun (KTU) mRNA, complete cds.
KJ902780 - Synthetic construct Homo sapiens clone ccsbBroadEn_12174 DNAAF2 gene, encodes complete protein.
JD117421 - Sequence 98445 from Patent EP1572962.
JD341631 - Sequence 322655 from Patent EP1572962.
JD178222 - Sequence 159246 from Patent EP1572962.
JD177103 - Sequence 158127 from Patent EP1572962.
BX248765 - human full-length cDNA 5-PRIME end of clone CS0DB008YP22 of Neuroblastoma of Homo sapiens (human).
JD538228 - Sequence 519252 from Patent EP1572962.
DQ569960 - Homo sapiens piRNA piR-30072, complete sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: B9WS54, C0JAP7, C14orf104, KTU, KTU_HUMAN, NM_018139, NP_060609, Q86TR1, Q86TY8, Q969Z5, Q9NVR5
UCSC ID: uc001wws.4
RefSeq Accession: NM_018139
Protein: Q9NVR5 (aka KTU_HUMAN)
CCDS: CCDS9691.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAAF2:
pcd (Primary Ciliary Dyskinesia)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_018139.2
exon count: 3CDS single in 3' UTR: no RNA size: 2976
ORF size: 2514CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2714.00frame shift in genome: no % Coverage: 99.56
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.