InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNAAF2

Summary

InnateDB Protein

IDBP-5747.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DNAAF2

Protein Name

dynein, axonemal, assembly factor 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000298292

InnateDB Gene

IDBG-5745 (DNAAF2)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:19052621}. Note=Localizes in the apical cytoplasm around the gamma-tubulin- positive pericentriolar region, not in the cilia.

Disease Associations

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:0000269PubMed:19052621}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0010033	response to organic substance
GO:0032526	response to retinoic acid
GO:0060285	cilium-dependent cell motility
GO:0070286	axonemal dynein complex assembly
GO:0071973	bacterial-type flagellum-dependent cell motility