DNAH9 (dynein axonemal heavy chain 9)

2014-11-01  

Identity

HGNC
DNAH9
LOCATION
17p12
LOCUSID
1770
ALIAS
CILD40,DNAH17L,DNEL1,DYH9,Dnahc9,HL-20,HL20
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1770
MIM: 603330
HGNC: 2953
Ensembl: ENSG00000007174

Variants:

dbSNP: 1770
ClinVar: 1770
TCGA: ENSG00000007174
COSMIC: DNAH9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000007174ENST00000262442Q9NYC9
ENSG00000007174ENST00000454412E7EP17
ENSG00000007174ENST00000579602K7EMX3
ENSG00000007174ENST00000579703J3QLM9
ENSG00000007174ENST00000579813K7EP21
ENSG00000007174ENST00000579828J3QQK8
ENSG00000007174ENST00000608377Q9NYC9

Expression (GTEx)

0
1
2
3
4
5
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
304717172018Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.17
304717182018Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.9
267970312016Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness.4

Citation

Dessen P

DNAH9 (dynein axonemal heavy chain 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62556/dnah9