DNAH8 (dynein axonemal heavy chain 8)

2018-07-01  

Identity

HGNC
LOCATION
6p21.2
LOCUSID
ALIAS
ATPase,SPGF46,hdhc9
FUSION GENES

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

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
365265522023'Rotor free-wheeling' in impaired F(1)F(O)-ATPase induces congenital hypermetabolism.1
365265522023'Rotor free-wheeling' in impaired F(1)F(O)-ATPase induces congenital hypermetabolism.1
336116752021A novel splicing variant in DNAH8 causes asthenozoospermia.4
337043672021Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.6
336116752021A novel splicing variant in DNAH8 causes asthenozoospermia.4
337043672021Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.6
326816482020Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.15
326816482020Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.15
273630332016Dynein axonemal heavy chain 8 promotes androgen receptor activity and associates with prostate cancer progression.14
273630332016Dynein axonemal heavy chain 8 promotes androgen receptor activity and associates with prostate cancer progression.14
243073752014Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.20
243073752014Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.20
195361512009Human V-ATPase gene can protect or predispose the host to pulmonary tuberculosis.3
195361512009Human V-ATPase gene can protect or predispose the host to pulmonary tuberculosis.3
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.9

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)