DNAAF3 (dynein axonemal assembly factor 3)

2014-11-01  

Identity

HGNC
LOCATION
19q13.42
LOCUSID
ALIAS
C19orf51,CILD2,DAB1,PCD,PF22

Other Information

Locus ID:

NCBI: 352909
MIM: 614566
HGNC: 30492
Ensembl: ENSG00000167646

Variants:

dbSNP: 352909
ClinVar: 352909
TCGA: ENSG00000167646
COSMIC: DNAAF3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167646ENST00000391720Q8N9W5
ENSG00000167646ENST00000455045Q8N9W5
ENSG00000167646ENST00000524407Q8N9W5
ENSG00000167646ENST00000526003M0R359
ENSG00000167646ENST00000527223Q8N9W5
ENSG00000167646ENST00000528412Q8N9W5
ENSG00000167646ENST00000532817H0YD30
ENSG00000167646ENST00000534170H0YCU4
ENSG00000167646ENST00000534214Q8N9W5
ENSG00000167646ENST00000588076M0R2L0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

References

Pubmed IDYearTitleCitations
293239292018Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.2
223879962012Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.0
311865182019Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations.0

Citation

Dessen P

DNAAF3 (dynein axonemal assembly factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62542/dnaaf3-(dynein-axonemal-assembly-factor-3)