DNAAF5 (dynein axonemal assembly factor 5)

2015-06-01  

Identity

HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
CILD18,HEATR2
FUSION GENES

Other Information

Locus ID:

NCBI: 54919
MIM: 614864
HGNC: 26013
Ensembl: ENSG00000164818

Variants:

dbSNP: 54919
ClinVar: 54919
TCGA: ENSG00000164818
COSMIC: DNAAF5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164818ENST00000297440Q86Y56
ENSG00000164818ENST00000403952E9PGY2
ENSG00000164818ENST00000437419H7C3B1
ENSG00000164818ENST00000440747H0Y650

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
230404962012Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.70

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