DNAI2
Chr 17ARdynein axonemal intermediate chain 2
Also known as: CILD9, DIC2, oda6
The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
Primary Disease Associations & Inheritance
Ciliary dyskinesia, primary, 9, with or without situs inversusMIM #612444
AR
Clinical Summary— DNAI2
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Gene-Disease Validity (ClinGen)
primary ciliary dyskinesia 9 · ARDefinitive
Definitive — sufficient evidence for diagnostic panels
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
32 Pathogenic / Likely Pathogenic· 118 VUS of 299 total submissions
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Open GeneReview ↗GeneReview available — DNAI2
Authoritative clinical overview · Recommended first read
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.98LOEUF
pLI 0.000
Z-score 1.64
OE 0.70 (0.51–0.98)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.42Z-score
OE missense 0.94 (0.86–1.03)
336 obs / 358.5 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.70 (0.51–0.98)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.86–1.03)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.04
0≤1.21.6
LoF obs/exp: 24 / 34.4Missense obs/exp: 336 / 358.5Syn Z: -0.37
ClinVar Variant Classifications
299 submitted variants in ClinVar
Classification Summary
Pathogenic19
Likely Pathogenic13
VUS118
Likely Benign147
Benign1
Conflicting1
19
Pathogenic
13
Likely Pathogenic
118
VUS
147
Likely Benign
1
Benign
1
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 11 | 0 | 8 | 0 | 19 |
Likely Pathogenic | 9 | 1 | 3 | 0 | 13 |
VUS | 1 | 97 | 14 | 6 | 118 |
Likely Benign | 1 | 3 | 69 | 74 | 147 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 1 | |||
| Total | 22 | 101 | 95 | 80 | 299 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DNAI2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 2; DNAI2
MIM #605483 · *
Ciliary dyskinesia, primary, 9, with or without situs inversus
MIM #612444Molecular basis of disorder known
Autosomal recessive
External Resources
Links to major genomics databases and tools
📖
Open GeneReview ↗GeneReview available — DNAI2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.
Guo S et al.·Hum Genomics
2024
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Loges NT et al.·Am J Hum Genet
2008
Transcriptomic Features of Recurrence Rates in Idiopathic Subglottic Stenosis.
Ying S et al.·Laryngoscope
2025
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Hjeij R et al.·Genet Med
2023
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
Rocca MS et al.·BMC Med Genet
2020Case report
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.
Pennarun G et al.·Hum Genet
2000
Exploring nasopharyngeal carcinoma genetics: Bioinformatics insights into pathways and gene associations.
Che Ismail CL et al.·Med J Malaysia
2024Review
PM2.5 Upregulates the Expression of MUC5AC via the EGFR-PI3K Pathway in Human Sinonasal Epithelial Cells.
Jiao J et al.·Int Arch Allergy Immunol
2022
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Loges NT et al.·Am J Hum Genet
2018
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
Loges NT et al.·Am J Hum Genet
2009
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
First report of DNAI2-associated primary ciliary dyskinesia in Libya: A case from a nonconsanguineous marriage.
Fathi Alatrash Z et al.·Respir Med Case Rep
2025Open Access
Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula.
Al-Mutairi DA et al.·Front Genet
2022Open Access
CCDC114, DNAI2 and TOP2A involves in the effects of tibolone treatment on postmenopausal endometrium.
Lv Y et al.·BMC Womens Health
2021Open Access
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population
Al-Mutairi DA et al.·Front Genet
2024
Integrative bioinformatics approaches for identifying potential biomarkers and pathways involved in non-obstructive azoospermia
Hu T et al.·Transl Androl Urol
2021
Rhinovirus C15 infection induces airway epithelial cell remodeling and robust inflammatory responses: Potential implications for airway obstruction in children.
Li Y et al.·Mucosal Immunol
2025Functional
IFT46 Expression in the Nasal Mucosa of Primary Ciliary Dyskinesia Patients: Preliminary Study
Mata M et al.·Allergy Rhinol (Providence)
2021Cohort
LRRC56 deletion causes primary ciliary dyskinesia in mice characterized by dynein arms defects
Wu R et al.·Biol Open
2025
Experimental and molecular support for Cfap70 as a causative gene of multiple morphological abnormalities of the flagella with male infertility.
Chen J et al.·Biol Reprod
2023
Endometrial Signatures of Subfertility in Beef Heifers Reveal Dysregulation of MAPK Signaling and Ciliary Function.
Kertz NC et al.·Genes (Basel)
2025
Top 7 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools