Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55172
MIM: 612517
HGNC: 20188
Ensembl: ENSG00000165506
Variants:
dbSNP: 55172
ClinVar: 55172
TCGA: ENSG00000165506
COSMIC: DNAAF2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165506 | ENST00000298292 | Q9NVR5 |
| ENSG00000165506 | ENST00000406043 | Q9NVR5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38053031 | 2023 | Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2. | 0 |
| 38053031 | 2023 | Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2. | 0 |
| 32638265 | 2020 | Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family. | 6 |
| 32638265 | 2020 | Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family. | 6 |
| 19052621 | 2008 | Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. | 189 |
| 19052621 | 2008 | Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. | 189 |
Citation
Dessen P
DNAAF2 (dynein axonemal assembly factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62541/dnaaf2-(dynein-axonemal-assembly-factor-2)
