Identity
HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
CILD18,HEATR2
FUSION GENES
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: 54919
MIM: 614864
HGNC: 26013
Ensembl: ENSG00000164818
Variants:
dbSNP: 54919
ClinVar: 54919
TCGA: ENSG00000164818
COSMIC: DNAAF5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164818 | ENST00000297440 | Q86Y56 |
| ENSG00000164818 | ENST00000403952 | E9PGY2 |
| ENSG00000164818 | ENST00000437419 | H7C3B1 |
| ENSG00000164818 | ENST00000440747 | H0Y650 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 23040496 | 2012 | Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. | 99 |
| 23040496 | 2012 | Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. | 99 |
Citation
Dessen P
DNAAF5 (dynein axonemal assembly factor 5)
Atlas Genet Cytogenet Oncol Haematol. 2015-06-01
Online version: http://atlasgeneticsoncology.org/gene/76872/dnaaf5-(dynein-axonemal-assembly-factor-5)
