DHX16 (DEAH-box helicase 16) — Gene

What This Gene Does

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]

Gene Info

Gene Group

"DEAH-box helicases|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex"

Locus Type

gene with protein product

Location

6p21.33

Ensembl

ENSG00000204560

Associated Conditions (11)

DHX16-related disorder

Inborn genetic diseases

Neurodevelopmental delay

Neuromuscular disease and ocular or auditory anomalies with or without seizures

Intellectual disability

Seizure

Neurodevelopmental disorders

Multiple renal cysts

Reduced renal corticomedullary differentiation

Enlarged kidney

6 conditions

Key Variants

RS140919186

Conflicting classifications of pathogenicity

Health Risk

RS2127583475

Likely pathogenic

Neurodevelopmental delay, Neurodevelopmental delay

Health Risk

RS2534379898

Likely pathogenic

Neuromuscular disease and ocular or auditory anomalies with or without seizures, Neuromuscular disease and ocular or auditory anomalies with or without seizures

Health Risk

RS1582931908

Pathogenic

Intellectual disability, Neurodevelopmental delay, Seizure

Health Risk

RS1582931640

Pathogenic/Likely pathogenic

Multiple renal cysts, Reduced renal corticomedullary differentiation, Enlarged kidney

Health Risk

RS1582940678

Pathogenic/Likely pathogenic

6 conditions, Neurodevelopmental disorders, Neuromuscular disease and ocular or auditory anomalies with or without seizures

Health Risk

RS1582953009

Pathogenic/Likely pathogenic

Neurodevelopmental delay, Intellectual disability, Neuromuscular disease and ocular or auditory anomalies with or without seizures

Health Risk

All Variants (7)

RSID	Category	Clinical Significance	Conditions
RS140919186	Health Risk	Conflicting classifications of pathogenicity	DHX16-related disorder, Inborn genetic diseases, DHX16-related disorder
RS2127583475	Health Risk	Likely pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2534379898	Health Risk	Likely pathogenic	Neuromuscular disease and ocular or auditory anomalies with or without seizures, Neuromuscular disease and ocular or auditory anomalies with or without seizures
RS1582931908	Health Risk	Pathogenic	Intellectual disability, Neurodevelopmental delay, Seizure
RS1582931640	Health Risk	Pathogenic/Likely pathogenic	Multiple renal cysts, Reduced renal corticomedullary differentiation, Enlarged kidney
RS1582940678	Health Risk	Pathogenic/Likely pathogenic	6 conditions, Neurodevelopmental disorders, Neuromuscular disease and ocular or auditory anomalies with or without seizures
RS1582953009	Health Risk	Pathogenic/Likely pathogenic	Neurodevelopmental delay, Intellectual disability, Neuromuscular disease and ocular or auditory anomalies with or without seizures

DHX16 Chromosome 6