DNAH9

Chr 17p12

dynein axonemal heavy chain 9

Aliases:: Dnahc9, KIAA0357, HL20, HL-20, DNAL1
MANE:: ENST00000262442.9

OMIM: 603330 ↗NCBI: 1770 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DNAH9 · Q9NYC9-3isoform

No predicted structure exists for the canonical Q9NYC9 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for DNAH9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.4/ 100

Very high

798 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)14%
Low(50–70)2%
Very low(< 50)1%

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
Haematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

ciliary dyskinesia, primary, 40
0.80
primary ciliary dyskinesia
0.46
congenital heart disease
0.42
Situs inversus totalis
0.37
visceral heterotaxy
0.37
Non-immune hydrops fetalis
0.34
alcohol drinking
0.33
Hydrocephalus
0.32
sialolithiasis
0.32
non-autoimmune hemolytic anemia
0.29

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

Protein function (UniProt)

Dynein axonemal heavy chain 9

Force generating protein required for cilia beating in respiratory epithelia (PubMed:30471717, PubMed:30471718). Produces force towards the minus ends of microtubules (PubMed:30471717, PubMed:30471718). Key component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (PubMed:30471717, PubMed:30471718). Required for structural and functional integrity of cilia (PubMed:30471717, PubMed:30471718)