DNAI2 (dynein axonemal intermediate chain 2)

2014-11-01  

Identity

HGNC
DNAI2
LOCATION
17q25.1
LOCUSID
64446
ALIAS
CILD9,DIC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64446
MIM: 605483
HGNC: 18744
Ensembl: ENSG00000171595

Variants:

dbSNP: 64446
ClinVar: 64446
TCGA: ENSG00000171595
COSMIC: DNAI2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171595ENST00000311014Q9GZS0
ENSG00000171595ENST00000446837Q9GZS0
ENSG00000171595ENST00000579055J3KT23
ENSG00000171595ENST00000579490J3QRG2
ENSG00000171595ENST00000582036Q9GZS0

Expression (GTEx)

0
10
20
30
40
50
60
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

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

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
189507412008DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.91
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62

Citation

Dessen P

DNAI2 (dynein axonemal intermediate chain 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62558/dnai2