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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
311781252019Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.5
305753222019The association between methylation patterns of DNAH17 and clinicopathological factors in hepatocellular carcinoma.2

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