DNAI3

Chr 1

dynein axonemal intermediate chain 3

Also known as: DIC3, NYD-SP29, WDR63

DNAI3 encodes a protein that negatively regulates cell migration through inhibition of Arp2/3 complex-mediated actin polymerization and is potentially involved in ciliary function through association with axonemal dynein complexes. Mutations cause primary ciliary dyskinesia with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern of associated ciliopathy.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.76
LOEUF
Mechanism
Clinical SummaryDNAI3
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.76LOEUF
pLI 0.000
Z-score 2.98
OE 0.56 (0.410.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.02Z-score
OE missense 0.87 (0.800.94)
410 obs / 472.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.56 (0.410.76)
00.351.4
Missense OE0.87 (0.800.94)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 29 / 52.2Missense obs/exp: 410 / 472.3Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNAI3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found