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  2. DHX16 - DEAH-box helicase 16 Gene

DHX16 - DEAH-box helicase 16 Gene

Homo sapiens

Also known as DBP2; PRP8; Prp2; DDX16; NMOAS; PRPF2; PRO2014

Gene ID: 8449 | Gene type: protein coding

About DHX16

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,653,127-30,673,006 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 202 orthologues, 18 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 17.0), spleen (RPKM 9.0) and 25 other tissues.

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. 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]

DHX16 Products(3)

mRNA Protein Name
NM_001164239.2 NP_001157711.1 pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 isoform 2
NM_001363515.2 NP_001350444.1 pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 isoform 3
NM_003587.5 NP_003578.2 pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 isoform 1

DHX16 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (406 - 556)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (642 - 729)

HA2

HA2: Helicase associated domain (HA2) (792 - 882)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (917 - 1015)

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  • 1041 a.a.
Protein Preferred Names Protein Names

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

ATP-dependent RNA helicase #3

Related Diseases

Diseases Alias
Neuromuscular Oculoauditory Syndrome

Neuromuscular Disease And Ocular Or Auditory Anomalies With Or Without Seizures

NMOAS

Plasmodium Malariae Malaria

Quartan Malaria

Malaria By Plasmodium Malariae

Nephrotic Syndrome Of Quartan Malaria

Malaria Nephrosis

Malarial Nephrosis

Nephrotic Syndrome In Malaria

Quartan Nephrosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DHX16 RGD RGD:1302963
Bos taurus DHX16 VGNC VGNC:28049
Felis catus DHX16 VGNC VGNC:61475
Canis familiaris DHX16 VGNC VGNC:39940
Macaca mulatta DHX16 VGNC VGNC:71761
Mus musculus DHX16 MGD MGI:1916442