DNAH11 (dynein axonemal heavy chain 11)

2014-11-01  

Identity

HGNC
DNAH11
LOCATION
7p15.3
LOCUSID
8701
ALIAS
CILD7,DNAHBL,DNAHC11,DNHBL,DPL11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8701
MIM: 603339
HGNC: 2942
Ensembl: ENSG00000105877

Variants:

dbSNP: 8701
ClinVar: 8701
TCGA: ENSG00000105877
COSMIC: DNAH11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105877ENST00000328843A0A0C4DFR0
ENSG00000105877ENST00000409508Q96DT5
ENSG00000105877ENST00000605912U3KQN2
ENSG00000105877ENST00000620169A0A087WYC6

Expression (GTEx)

0
1
2
3
4
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
190609112009Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.392
121424642002Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.81
153045252004Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1.79
180228652008Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.74
221842042012Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
269098012016DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.34
194102012009Ciliary defects and genetics of primary ciliary dyskinesia.31
184927032008Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.23
153751572004p150(Glued), Dynein, and microtubules are specifically required for activation of MKK3/6 and p38 MAPKs.18

Citation

Dessen P

DNAH11 (dynein axonemal heavy chain 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62546/dnah11