DNAH17 (dynein axonemal heavy chain 17)

2014-11-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
DNAHL1,DNEL2,SPGF39
FUSION GENES

Other Information

Locus ID:

NCBI: 8632
MIM: 610063
HGNC: 2946
Ensembl: ENSG00000187775

Variants:

dbSNP: 8632
ClinVar: 8632
TCGA: ENSG00000187775
COSMIC: DNAH17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187775ENST00000389840Q9UFH2
ENSG00000187775ENST00000591369K7ELN3

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375744972023Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.2
375744972023Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.2
359320982022Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella.2
359320982022Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella.2
330703432021Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.17
330703432021Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.17
316589872020A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.54
318412272020DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.14
334239592020Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects.5
316589872020A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.54
318412272020DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.14
334239592020Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects.5
305753222019The association between methylation patterns of DNAH17 and clinicopathological factors in hepatocellular carcinoma.6
311781252019Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.64
305753222019The association between methylation patterns of DNAH17 and clinicopathological factors in hepatocellular carcinoma.6

Citation

Dessen P

DNAH17 (dynein axonemal heavy chain 17)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62548/dnah17-(dynein-axonemal-heavy-chain-17)