DNAAF4 Chromosome 15
Dynein axonemal assembly factor 4
Upload your DNA to see your personal genotypes for variants in DNAAF4.
What This Gene Does
This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Axonemal dynein assembly factors"
Locus Type
gene with protein product
Location
15q21.3
Ensembl
ENSG00000256061
Associated Conditions (8)
DNAAF4-related disorder
Inborn genetic diseases
Primary ciliary dyskinesia 25
Dyslexia
susceptibility to
1
Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Key Variants
RS116339967
Conflicting classifications of pathogenicity
DNAAF4-related disorder, Inborn genetic diseases, DNAAF4-related disorder
Health Risk
RS1200826286
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25
Health Risk
RS147149511
Conflicting classifications of pathogenicity
DNAAF4-related disorder, DNAAF4-related disorder
Health Risk
RS1555413614
Conflicting classifications of pathogenicity
Health Risk
RS760805307
Conflicting classifications of pathogenicity
Health Risk
RS769471957
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1595959849
Likely pathogenic
Health Risk
RS2057914149
Likely pathogenic
Health Risk
RS2058668062
Likely pathogenic
Dyslexia, susceptibility to, 1
Health Risk
RS944647296
Likely pathogenic
Health Risk
RS1060503095
Pathogenic
Health Risk
RS1202764933
Pathogenic
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116339967 | Health Risk | Conflicting classifications of pathogenicity | DNAAF4-related disorder, Inborn genetic diseases, DNAAF4-related disorder |
| RS1200826286 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25 |
| RS147149511 | Health Risk | Conflicting classifications of pathogenicity | DNAAF4-related disorder, DNAAF4-related disorder |
| RS1555413614 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760805307 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769471957 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1595959849 | Health Risk | Likely pathogenic | — |
| RS2057914149 | Health Risk | Likely pathogenic | — |
| RS2058668062 | Health Risk | Likely pathogenic | Dyslexia, susceptibility to, 1 |
| RS944647296 | Health Risk | Likely pathogenic | — |
| RS1060503095 | Health Risk | Pathogenic | — |
| RS1202764933 | Health Risk | Pathogenic | — |
| RS1236459969 | Health Risk | Pathogenic | — |
| RS1271948695 | Health Risk | Pathogenic | — |
| RS1302509857 | Health Risk | Pathogenic | Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25 |
| RS1322566644 | Health Risk | Pathogenic | — |
| RS1450498773 | Health Risk | Pathogenic | — |
| RS2058179740 | Health Risk | Pathogenic | Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25 |
| RS2058566495 | Health Risk | Pathogenic | — |
| RS2141411174 | Health Risk | Pathogenic | — |
| RS2543406965 | Health Risk | Pathogenic | Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25 |
| RS2543502487 | Health Risk | Pathogenic | — |
| RS397515622 | Health Risk | Pathogenic | Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25 |
| RS753649614 | Health Risk | Pathogenic | Primary ciliary dyskinesia 25, Dyslexia, susceptibility to |
| RS755135568 | Health Risk | Pathogenic | — |
| RS760262916 | Health Risk | Pathogenic | — |
| RS770136467 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS779538333 | Health Risk | Pathogenic | DNAAF4-related disorder, DNAAF4-related disorder |
| RS982697369 | Health Risk | Pathogenic | Dyslexia, susceptibility to, 1 |
| RS201173498 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 25, Primary ciliary dyskinesia |
| RS397515621 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 25, Dyslexia, susceptibility to |
| RS748440695 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS751610886 | Health Risk | Pathogenic/Likely pathogenic | DNAAF4-related disorder, Primary ciliary dyskinesia 25, Primary ciliary dyskinesia |
| RS762704959 | Health Risk | Pathogenic/Likely pathogenic | DNAAF4-related disorder, DNAAF4-related disorder |
| RS774796257 | Health Risk | Pathogenic/Likely pathogenic | Dyslexia, susceptibility to, 1 |
| RS781156334 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 25, Primary ciliary dyskinesia, Primary ciliary dyskinesia 25 |