Gene: DHX38

Alternate names for this Gene: DDX38|PRP16|PRPF16|RP84

Gene Summary: 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. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.2

Description of this Gene: DEAH-box helicase 38

Type of Gene: protein-coding

rs9302635 in DHX38 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs142589036 in DHX38 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1050362 in DHX38 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs9302635 in DHX38 gene and Ferritin measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs2287997 in DHX38 gene and Protein measurement PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs587777554 in DHX38 gene and RETINITIS PIGMENTOSA 84 PMID 30208423 2018 Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.

PMID 24737827 2014 A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

rs2287997 in DHX38 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs9302635 in DHX38 gene and Serum ferritin measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs9302635 in DHX38 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.