DHX16 (DEAH-box helicase 16)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8449
Gene name Gene Name - the full gene name approved by the HGNC.
DEAH-box helicase 16
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHX16
Synonyms (NCBI Gene) Gene synonyms aliases
DBP2, DDX16, NMOAS, PRO2014, PRP8, PRPF2, Prp2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NMOAS
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 m
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs1582931640 C>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1582931908 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1582940678 A>T Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1582953009 C>T Likely-pathogenic, pathogenic Genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT032275 hsa-let-7b-5p Proteomics 18668040
MIRT049188 hsa-miR-92a-3p CLASH 23622248
MIRT048294 hsa-miR-107 CLASH 23622248
MIRT440820 hsa-miR-432-5p HITS-CLIP 24374217
MIRT440820 hsa-miR-432-5p HITS-CLIP 24374217
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IDA 29360106
GO:0000398 Process MRNA splicing, via spliceosome IMP 20423332, 25296192
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603405 2739 ENSG00000204560
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60231
Protein name Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 (EC 3.6.4.13) (ATP-dependent RNA helicase #3) (DEAH-box protein 16)
Protein function 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 reacti
PDB 5Z56 , 5Z57 , 5Z58 , 6FF7 , 7DVQ , 7QTT , 8CH6 , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 402 → 562 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 591 → 730 Helicase conserved C-terminal domain Family
PF04408 HA2 792 → 937 Helicase associated domain (HA2) Domain
PF07717 OB_NTP_bind 939 → 1015 Oligonucleotide/oligosaccharide-binding (OB)-fold Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the spleen, thyroid and testis. Also expressed in the brain and cerebellum. {ECO:0000269|PubMed:31256877}.
Sequence 
MATPAGLERWVQDELHSVLGLSERHVAQFLIGTAQRCTSAEEFVQRLRDTDTLDLSGPAR
DFALRLWNKVPRKAVVEKPARAAEREARALLEKNRSYRLLEDSEESSEETVSRAGSSLQK
KRKKRKHLRKKREEEEEEEASEKGKKKTGGSKQQTEKPESEDEWERTERERLQDLEERDA
FAERVRQRDKDRTRNVLERSDKKAYEEAQKRLKMAEEDRKAMVPELRKKSRREYLAKRER
EKLEDLEAELADEEFLFGDVELSRHERQELKYKRRVRDLAREYRAAGEQEKLEATNRYHM
PKETRGQPARAVDLVEEESGAPGEEQRRWEEARLGAASLKFGARDAASQEPKYQLVLEEE
ETIEFVRATQLQGDEEPSAPPTSTQAQQKESIQAVRRSLPVFPFREELLAAIANHQVLII
EGETGSGKTTQIPQYLFEEGYTNKGMKIACTQPRRVAAMSVAARVAREMGVKLGNEVGYS
IRFEDCTSERTVLRYMTDGMLLREFLSEPDLASYSVVMVDEAHERTLHTDILFGLIKDVA
RFRPELKVLVASATMDTARFSTFFDDAPVFRIPGRRFPVDIFYTKAPEADYLEACVVSVL
QIHVTQPPGDILVFLTGQEEIEAACEMLQDRCRRLGSKIRELLVLPIYANLPSDMQARIF
QPTPPGARKVVVATNIAETSLTIEGIIYVLDPGFCKQKSYNPRTGMESLTVTPCSKASAN
QRAGRAGRVAAGKCFRLYTAWAYQHELEETTVPEIQRTSLGNVVLLLKSLGIHDLMHFDF
LDPPPYETLLLALEQLYALGALNHLGELTTSGRKMAELPVDPMLSKMILASEKYSCSEEI
LTVAAMLSVNNSIFYRPKDKVVHADNARVNFFLPGGDHLVLLNVYTQWAESGYSSQWCYE
NFVQFRSMRRARDVREQLEGLLERVEVGLSSCQGDYIRVRKAITAGYFYHTARLTRSGYR
TVKQQQTVFIHPNSSLFEQQPRWLLYHELVLTTKEFMRQVLEIESSWLLEVAPHYYKAKE
LEDPHAKKMPKKIGKTREELG
Sequence length 1041
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)		 23853074
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)		 17660530
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 19503088, 17804836
Show/Hide Text Mining Associations (35)
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 32917645, 36701139
Alzheimer Disease Associate 35627223
Amyotrophic Lateral Sclerosis Associate 36163369
Autoimmune Diseases Associate 9547260
Central Nervous System Diseases Associate 31256877
Colorectal Neoplasms Associate 36701139
Death Associate 30718501
Diastrophic dysplasia Associate 31256877
Epilepsy Associate 40141454
Eye Abnormalities Associate 40141454