DDX41 (DEAD-box helicase 41)

2007-04-01  

Identity

HGNC
LOCATION
5q35.3
LOCUSID
ALIAS
ABS,MPLPF
FUSION GENES

Other Information

Locus ID:

NCBI: 51428
MIM: 608170
HGNC: 18674
Ensembl: ENSG00000183258

Variants:

dbSNP: 51428
ClinVar: 51428
TCGA: ENSG00000183258
COSMIC: DDX41

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183258ENST00000330503Q9UJV9
ENSG00000183258ENST00000504781H0YA06
ENSG00000183258ENST00000507955A0A499FJW5
ENSG00000183258ENST00000508279H0Y8L8
ENSG00000183258ENST00000509576D6RGI7
ENSG00000183258ENST00000510171D6RD33
ENSG00000183258ENST00000625286D6RD33
ENSG00000183258ENST00000629036D6RGI7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
STING mediated induction of host immune responsesREACTOMER-HSA-1834941
IRF3-mediated induction of type I IFNREACTOMER-HSA-3270619
Regulation of innate immune responses to cytosolic DNAREACTOMER-HSA-3134975

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
218921742011The helicase DDX41 senses intracellular DNA mediated by the adaptor STING in dendritic cells.314
231427752012The helicase DDX41 recognizes the bacterial secondary messengers cyclic di-GMP and cyclic di-AMP to activate a type I interferon immune response.139
259206832015Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.54
267129092016Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.31
275021872017The emerging roles of the DDX41 protein in immunity and diseases.18
277214872016Structural and Functional Analysis of DDX41: a bispecific immune receptor for DNA and cyclic dinucleotide.10
269444772016Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.7
271338282016Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.7
156903902005Abstrakt interacts with and regulates the expression of sorting nexin-2.6
283480862017The DEAD-box RNA helicase DDX41 is a novel repressor of p21WAF1/CIP1 mRNA translation.6

Citation

Dessen P

DDX41 (DEAD-box helicase 41)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46682/ddx41