DHX16

Chr 6p21.33

DEAH-box helicase 16

Aliases:: DBP2, Prp2, PRPF2
MANE:: ENST00000376442.8

OMIM: 603405 ↗NCBI: 8449 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DHX16 · O60231

v62025-08-01

Predicted Aligned Error matrix for DHX16 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.7/ 100

Confident

1,041 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)48%
Low(50–70)8%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neuromuscular disease and ocular or auditory anomalies with or without seizures
0.65
hereditary disease
0.42
Neurodevelopmental delay
0.38
dengue disease
0.37
neurodevelopmental disorder
0.37
Intellectual disability
0.35
Seizure
0.32
Reduced renal corticomedullary differentiation
0.26
Enlarged kidney
0.26
Multiple renal cysts
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16

Required for pre-mRNA splicing as a component of the spliceosome (PubMed:20423332, PubMed:20841358, PubMed:25296192, PubMed:29360106). Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Also plays a role in innate antiviral response by acting as a pattern recognition receptor sensing splicing signals in viral RNA (PubMed:35263596). Mechanistically, TRIM6 promotes the interaction between unanchored 'Lys-48'-polyubiquitin chains and DHX16, leading to DHX16 interaction with RIGI and ssRNA to amplify RIGI-dependent innate antiviral immune responses (PubMed:35263596)