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
370889652023First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.1
370889652023First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.1
361408292022Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.3
361788562022A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.3
361408292022Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.3
361788562022A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.3
341334402021DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.5
344059512021Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.7
341334402021DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.5
344059512021Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.7
316056282020Genetic variants of DNAH11 and LRFN2 genes and their association with ovarian and breast cancer.10
323579252020Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.3
332431782020Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.10
316056282020Genetic variants of DNAH11 and LRFN2 genes and their association with ovarian and breast cancer.10
323579252020Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.3

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-(dynein-axonemal-heavy-chain-11)