DNAH10 (dynein axonemal heavy chain 10)

2014-11-01  

Identity

HGNC
DNAH10
LOCATION
12q24.31
LOCUSID
196385
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 196385
MIM: 605884
HGNC: 2941
Ensembl: ENSG00000197653

Variants:

dbSNP: 196385
ClinVar: 196385
TCGA: ENSG00000197653
COSMIC: DNAH10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197653ENST00000409039A0A1C7CYW8
ENSG00000197653ENST00000497783F5H515
ENSG00000197653ENST00000538983A0A096LNK1
ENSG00000197653ENST00000540041H0YGZ2
ENSG00000197653ENST00000614082A0A087WV07
ENSG00000197653ENST00000638045Q8IVF4

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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
373146482023Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.3
373146482023Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.3
346572362022Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility.10
346572362022Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility.10
342372822021Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.30
342372822021Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.30
319597352020DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer.15
319597352020DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer.15
318367222019Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation.1
318367222019Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation.1
278418772017Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.264
278418772017Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.264
265176702016Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.7
265176702016Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.7
248913322014Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.14

Citation

Dessen P

DNAH10 (dynein axonemal heavy chain 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62544/dnah10-(dynein-axonemal-heavy-chain-10)