DNAH5 (dynein axonemal heavy chain 5)

2014-11-01  

Identity

HGNC
DNAH5
LOCATION
5p15.2
LOCUSID
1767
ALIAS
CILD3,DNAHC5,HL1,KTGNR,PCD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1767
MIM: 603335
HGNC: 2950
Ensembl: ENSG00000039139

Variants:

dbSNP: 1767
ClinVar: 1767
TCGA: ENSG00000039139
COSMIC: DNAH5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000039139ENST00000265104Q8TE73

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
202201762010Analysis of genetic inheritance in a family quartet by whole-genome sequencing.433
166278672006DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.87
194102012009Ciliary defects and genetics of primary ciliary dyskinesia.31
184927032008Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.23
184927032008Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.23
193002642009Primary ciliary dyskinesia: improving the diagnostic approach.23
193571182009Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.21
193571182009Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.21
164929822006Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.9
251346402014DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease.9

Citation

Dessen P

DNAH5 (dynein axonemal heavy chain 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62552/dnah5