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
368642852023Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.3
380225572023Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.0
368642852023Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.3
380225572023Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.0
349629882022Novel homozygous mutations of DNAH5 in Kartagener syndrome.1
358691212022Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.5
359604142022DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.1
349629882022Novel homozygous mutations of DNAH5 in Kartagener syndrome.1
358691212022Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.5
359604142022DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.1
336071722021Genome-wide association analysis of cognitive function in Danish long-lived individuals.1
343914052021Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.4
336071722021Genome-wide association analysis of cognitive function in Danish long-lived individuals.1
343914052021Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.4
323579252020Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.3

Citation

Dessen P

DNAH5 (dynein axonemal heavy chain 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62552/css/lib/js/lib/zoomerang.js