DNAAF2 (dynein axonemal assembly factor 2)

2014-11-01  

Identity

HGNC
DNAAF2
LOCATION
14q21.3
LOCUSID
55172
ALIAS
C14orf104,CILD10,KTU,PF13

Other Information

Locus ID:

NCBI: 55172
MIM: 612517
HGNC: 20188
Ensembl: ENSG00000165506

Variants:

dbSNP: 55172
ClinVar: 55172
TCGA: ENSG00000165506
COSMIC: DNAAF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165506ENST00000298292Q9NVR5
ENSG00000165506ENST00000406043Q9NVR5

Expression (GTEx)

0
5
10
15
20
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380530312023Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.0
380530312023Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.0
326382652020Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.6
326382652020Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.6
190526212008Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.189
190526212008Ktu/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/cancer-prone-explorer/css/lib/teaching-explorer/