DHX16 (DEAH-box helicase 16)

2007-04-01 Affiliation

Identity

HGNC

DHX16

LOCATION

6p21.33

LOCUSID

8449

ALIAS

DBP2,DDX16,NMOAS,PRO2014,PRP8,PRPF2,Prp2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204560	ENST00000376437	Q5SQH5
ENSG00000204560	ENST00000376442	O60231
ENSG00000204560	ENST00000376442	Q5SQH4
ENSG00000204560	ENST00000415603	A2AB15

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Spliceosome	KEGG	ko03040
Spliceosome	KEGG	hsa03040
Gene Expression	REACTOME	R-HSA-74160
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
mRNA Splicing	REACTOME	R-HSA-72172
mRNA Splicing - Major Pathway	REACTOME	R-HSA-72163

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37574199	2023	Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.	0
37574199	2023	Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.	0
35263596	2022	The RNA helicase DHX16 recognizes specific viral RNA to trigger RIG-I-dependent innate antiviral immunity.	13
35263596	2022	The RNA helicase DHX16 recognizes specific viral RNA to trigger RIG-I-dependent innate antiviral immunity.	13
31256877	2019	Paralog Studies Augment Gene Discovery: DDX and DHX Genes.	40
31256877	2019	Paralog Studies Augment Gene Discovery: DDX and DHX Genes.	40
25296192	2014	GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo.	8
25296192	2014	GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo.	8
20423332	2010	Contribution of DEAH-box protein DHX16 in human pre-mRNA splicing.	11
20453000	2010	A Large-scale genetic association study of esophageal adenocarcinoma risk.	26
20841358	2010	Nuclear retention of unspliced pre-mRNAs by mutant DHX16/hPRP2, a spliceosomal DEAH-box protein.	12
20423332	2010	Contribution of DEAH-box protein DHX16 in human pre-mRNA splicing.	11
20453000	2010	A Large-scale genetic association study of esophageal adenocarcinoma risk.	26
20841358	2010	Nuclear retention of unspliced pre-mRNAs by mutant DHX16/hPRP2, a spliceosomal DEAH-box protein.	12
19851445	2009	High-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/js/css/welcome