DNAAF2

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]

Description

Dynein axonemal assembly factor 2

Tissue specificity

Low tissue specificity

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

14 (49625174 - 49635244)

Ensembl ID

ENSG00000165506  (ver. 103.38)

Orthologs

Mouse Dnaaf2: ENSMUSG00000020973

UniProt

Q9NVR5

neXtProt

NX_Q9NVR5

Human splice variants
Mouse splice variants

Protein structure