DNAAF4

Chr 15q21.3

dynein axonemal assembly factor 4

Aliases:: EKN1, FLJ37882, CILD25, pf23
MANE:: ENST00000321149.7

OMIM: 608706 ↗NCBI: 161582 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DNAAF4 · Q8WXU2

v62025-08-01

Predicted Aligned Error matrix for DNAAF4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.9/ 100

Confident

420 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)33%
Low(50–70)7%
Very low(< 50)7%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

primary ciliary dyskinesia
0.75
dyslexia
0.56
placenta praevia
0.28
atrial septal defect
0.27
heart disorder
0.26
alcohol drinking
0.26
hereditary disease
0.19
Heterotaxia
0.08
breast cancer
0.07
breast carcinoma
0.06

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

Protein function (UniProt)

Dynein axonemal assembly factor 4

Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity