DNAAF5

Chr 7p22.3

dynein axonemal assembly factor 5

Aliases:: FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18
MANE:: ENST00000297440.11

OMIM: 614864 ↗NCBI: 54919 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DNAAF5 · Q86Y56

v62025-08-01

Predicted Aligned Error matrix for DNAAF5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.4/ 100

Very high

855 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)10%
Low(50–70)2%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders
BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

primary ciliary dyskinesia
0.79
tongue cancer
0.27
ovarian neoplasm
0.25
congenital heart disease
0.12
schizophrenia
0.11
hepatocellular carcinoma
0.08
ciliopathy
0.06
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
0.06
Joubert syndrome
0.05
primary ciliary dyskinesia 5
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dynein axonemal assembly factor 5

Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility

Curated MONDO disease pages that list DNAAF5 among their top associated genes.

primary ciliary dyskinesiaRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with DNAAF5