DNAAF3 (dynein axonemal assembly factor 3)

2014-11-01  

Identity

HGNC
DNAAF3
LOCATION
19q13.42
LOCUSID
352909
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
311865182019Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations.11
311865182019Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations.11
293239292018Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.7
293239292018Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.7
223879962012Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.136
223879962012Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.136

Citation

Dessen P

DNAAF3 (dynein axonemal assembly factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62542/gene-explorer/teaching-explorer/css/favicon/apple-touch-icon.png