DHX16 (DEAH-box helicase 16)

2007-04-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
DBP2,DDX16,NMOAS,PRO2014,PRP8,PRPF2,Prp2

Other Information

Locus ID:

NCBI: 8449
MIM: 603405
HGNC: 2739
Ensembl: ENSG00000204560

Variants:

dbSNP: 8449
ClinVar: 8449
TCGA: ENSG00000204560
COSMIC: DHX16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204560ENST00000376437Q5SQH5
ENSG00000204560ENST00000376442O60231
ENSG00000204560ENST00000376442Q5SQH4
ENSG00000204560ENST00000415603A2AB15

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375741992023Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.0
375741992023Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.0
352635962022The RNA helicase DHX16 recognizes specific viral RNA to trigger RIG-I-dependent innate antiviral immunity.13
352635962022The RNA helicase DHX16 recognizes specific viral RNA to trigger RIG-I-dependent innate antiviral immunity.13
312568772019Paralog Studies Augment Gene Discovery: DDX and DHX Genes.40
312568772019Paralog Studies Augment Gene Discovery: DDX and DHX Genes.40
252961922014GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo.8
252961922014GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo.8
204233322010Contribution of DEAH-box protein DHX16 in human pre-mRNA splicing.11
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.26
208413582010Nuclear retention of unspliced pre-mRNAs by mutant DHX16/hPRP2, a spliceosomal DEAH-box protein.12
204233322010Contribution of DEAH-box protein DHX16 in human pre-mRNA splicing.11
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.26
208413582010Nuclear retention of unspliced pre-mRNAs by mutant DHX16/hPRP2, a spliceosomal DEAH-box protein.12
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.58

Citation

Dessen P

DHX16 (DEAH-box helicase 16)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46670/favicon/haematological-explorer/case-report-explorer/