DNAAF19 — dynein axonemal assembly factor 19

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

24PubMed Papers

#13,353 · top 69% of 19K genes

21Diseases

top 24%

0Drugs

26Pathogenic Variants

top 36%

OMIM Disease GeneExperimental GO EvidenceSwiss-Prot Reviewed

protein homodimerization activityinner dynein arm assemblyprotein bindingaxonemal dynein complex assemblyprimary ciliary dyskinesiaSevere intellectual disability and progressive spastic paraplegiadiarrhea 12, with microvillus atrophySpastic paraplegia

AI Summary

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dynein axonemal assembly factor 19

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

primary ciliary dyskinesiaOpen Targets

0.72Strong

diarrhea 12, with microvillus atrophyOpen Targets

0.34Weak

Severe intellectual disability and progressive spastic paraplegiaOpen Targets

0.34Weak

Spastic paraplegiaOpen Targets

0.34Weak

situs inversusOpen Targets

0.33Weak

Situs inversus totalisOpen Targets

0.33Weak

Absent inner and outer dynein armsOpen Targets

0.33Weak

gliomaOpen Targets

0.08Suggestive

neoplasmOpen Targets

0.03Suggestive

Abnormality of the skeletal systemOpen Targets

0.03Suggestive

self-injurious ideationOpen Targets

0.02Suggestive

cancerOpen Targets

0.01Suggestive

Alzheimer diseaseOpen Targets

0.01Suggestive

infertilityOpen Targets

0.01Suggestive

ciliopathyOpen Targets

0.01Suggestive

Reduced sperm motilityOpen Targets

0.01Suggestive

atrial fibrillationOpen Targets

0.00Suggestive

genetic disorderOpen Targets

0.00Suggestive

acute promyelocytic leukemiaOpen Targets

0.00Suggestive

myeloid leukemiaOpen Targets

0.00Suggestive

Ciliary dyskinesia, primary, 17UniProt

Pathogenic Variants26

NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)Pathogenic

★★☆☆2026→ Residue 154

NM_213607.3(DNAAF19):c.289dup (p.Leu97fs)Pathogenic

Primary ciliary dyskinesia|Primary ciliary dyskinesia 17

★★☆☆2025→ Residue 97

NM_213607.3(DNAAF19):c.328C>T (p.Arg110Ter)Pathogenic

Primary ciliary dyskinesia|Diarrhea 12, with microvillus atrophy

★★☆☆2025→ Residue 110

NM_213607.3(DNAAF19):c.144-1G>APathogenic

Primary ciliary dyskinesia|Primary ciliary dyskinesia 17

★★☆☆2025

NM_213607.3(DNAAF19):c.566_569del (p.Glu189fs)Pathogenic

Primary ciliary dyskinesia|Primary ciliary dyskinesia 17

★★☆☆2025→ Residue 189

NM_213607.3(DNAAF19):c.298G>T (p.Glu100Ter)Pathogenic

Primary ciliary dyskinesia|Primary ciliary dyskinesia 17

★★☆☆2024→ Residue 100

NM_213607.3(DNAAF19):c.568_569dup (p.Ser190fs)Likely pathogenic

Primary ciliary dyskinesia|Absent inner and outer dynein arms;Primary ciliary dyskinesia;Situs inversus|Primary ciliary dyskinesia 17

★★☆☆2024→ Residue 190

NM_213607.3(DNAAF19):c.276_276+13delLikely pathogenic

Primary ciliary dyskinesia 17

★★☆☆2024

NM_213607.3(DNAAF19):c.331C>T (p.Arg111Ter)Pathogenic

Primary ciliary dyskinesia|not provided

★★☆☆2024→ Residue 111

NM_213607.3(DNAAF19):c.115C>T (p.Gln39Ter)Pathogenic

Primary ciliary dyskinesia

★★☆☆2016→ Residue 39

NM_213607.3(DNAAF19):c.37G>T (p.Glu13Ter)Pathogenic

Primary ciliary dyskinesia

★☆☆☆2025→ Residue 13

NM_213607.3(DNAAF19):c.410_413del (p.Thr137fs)Likely pathogenic

Primary ciliary dyskinesia 17

★☆☆☆2024→ Residue 137

NM_213607.3(DNAAF19):c.218G>A (p.Trp73Ter)Likely pathogenic

Primary ciliary dyskinesia 17

★☆☆☆2024→ Residue 73

NM_213607.3(DNAAF19):c.197del (p.Gly66fs)Likely pathogenic

Primary ciliary dyskinesia 17

★☆☆☆2024→ Residue 66

NM_213607.3(DNAAF19):c.600del (p.Met201fs)Likely pathogenic

Primary ciliary dyskinesia 17

★☆☆☆2024→ Residue 201

NM_213607.3(DNAAF19):c.78C>A (p.Tyr26Ter)Likely pathogenic

Primary ciliary dyskinesia 17

★☆☆☆2024→ Residue 26

NM_213607.3(DNAAF19):c.276+1G>CPathogenic

Primary ciliary dyskinesia

★☆☆☆2023

NM_213607.3(DNAAF19):c.144-1G>TPathogenic

Primary ciliary dyskinesia

★☆☆☆2023

NM_213607.3(DNAAF19):c.406C>T (p.Gln136Ter)Pathogenic

Primary ciliary dyskinesia

★☆☆☆2023→ Residue 136

NM_213607.3(DNAAF19):c.359dup (p.Tyr120Ter)Pathogenic

Primary ciliary dyskinesia

★☆☆☆2023→ Residue 120

Tissue Expression6 tissues

Lung

Ovary

Bone Marrow

Heart

Liver

Brain

Gene Interaction Network6 neighbors

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StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q8IW40

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ConstraintgnomAD v4.1

LOEUFⓘ

1.26LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.72 [0.43–1.26]

Rankings3 dim

Where DNAAF19 stands among ~20K protein-coding genes

#13,173of 20,598
Most Researched24
#1,971of 5,509
Most Pathogenic Variants26
#13,250of 17,882
Most Constrained (LOEUF)1.26