Human Gene DHX16 (uc011gtv.2) Description and Page Index
Description: Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 2, mRNA. RefSeq Summary (NM_001164239): 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. Transcript (Including UTRs) Position: chr6_mann_hap4:1,968,963-1,988,926 Size: 19,964 Total Exon Count: 20 Strand: - Coding Region Position: chr6_mann_hap4:1,969,086-1,988,855 Size: 19,770 Coding Exon Count: 20
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Comments and Description Text from UniProtKB
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database: DHX16 CDC HuGE Published Literature: DHX16 Positive Disease Associations: Multiple Sclerosis Related Studies:
Multiple Sclerosis David A Hafler et al. The New England journal of medicine 2007, Risk alleles for multiple sclerosis identified by a genomewide study., The New England journal of medicine.
[PubMed 17660530]
Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for multiple sclerosis.
Comparative Toxicogenomics Database (CTD)
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Microarray Expression Data
mRNA Secondary Structure of 3' and 5' UTRs
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Protein Domain and Structure Information
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
