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
ID:KTU_HUMAN 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;
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.
ModBase Predicted Comparative 3D Structure on Q9NVR5
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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.