DNAH8 (dynein axonemal heavy chain 8)

2018-07-01  

Identity

HGNC
DNAH8
LOCATION
6p21.2
LOCUSID
1769
ALIAS
ATPase,SPGF46,hdhc9
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1769
MIM: 603337
HGNC: 2952
Ensembl: ENSG00000124721

Variants:

dbSNP: 1769
ClinVar: 1769
TCGA: ENSG00000124721
COSMIC: DNAH8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124721ENST00000327475A0A075B6F3
ENSG00000124721ENST00000359357Q96JB1
ENSG00000124721ENST00000373278Q8IU65
ENSG00000124721ENST00000394393H3BLZ4
ENSG00000124721ENST00000449981H0Y7V4

Expression (GTEx)

0
5
10
15
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
N/A

References

Pubmed IDYearTitleCitations
243073752014Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.14
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.6
273630332016Dynein axonemal heavy chain 8 promotes androgen receptor activity and associates with prostate cancer progression.4
195361512009Human V-ATPase gene can protect or predispose the host to pulmonary tuberculosis.3

Citation

Dessen P

DNAH8 (dynein axonemal heavy chain 8)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57403/dnah8-(dynein-axonemal-heavy-chain-8)