DHX30 (DExH-box helicase 30)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22907
Gene name Gene Name - the full gene name approved by the HGNC.
DExH-box helicase 30
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHX30
Synonyms (NCBI Gene) Gene synonyms aliases
DDX30, NEDMIAL, RETCOR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDMIAL
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
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 Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs1057519436 G>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs1060499733 A>G Pathogenic, likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs1576517675 A>G Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
miRTarBase ID miRNA Experiments Reference
MIRT029845 hsa-miR-26b-5p Microarray 19088304
MIRT051274 hsa-miR-16-5p CLASH 23622248
MIRT048943 hsa-miR-92a-3p CLASH 23622248
MIRT048943 hsa-miR-92a-3p CLASH 23622248
MIRT048943 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IDA 18063578
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
GO:0003723 Function RNA binding IDA 29100085
GO:0003724 Function RNA helicase activity IDA 29100085
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616423 16716 ENSG00000132153
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7L2E3
Protein name ATP-dependent RNA helicase DHX30 (EC 3.6.4.13) (DEAH box protein 30)
Protein function RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By sim
PDB 2DB2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 437 → 600 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 652 → 787 Helicase conserved C-terminal domain Family
PF04408 HA2 851 → 966 Helicase associated domain (HA2) Domain
PF07717 OB_NTP_bind 1015 → 1105 Oligonucleotide/oligosaccharide-binding (OB)-fold Domain
Sequence 
MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISRASRDLLKEFPQPKNLLNSV
IGRALGISHAKDKLVYVHTNGPKKKKVTLHIKWPKSVEVEGYGSKKIDAERQAAAAACQL
FKGWGLLGPRNELFDAAKYRVLADRFGSPADSWWRPEPTMPPTSWRQLNPESIRPGGPGG
LSRSLGREEEEDEEEELEEGTIDVTDFLSMTQQDSHAPLRDSRGSSFEMTDDDSAIRALT
QFPLPKNLLAKVIQIATSSSTAKNLMQFHTVGTKTKLSTLTLLWPCPMTFVAKGRRKAEA
ENKAAALACKKLKSLGLVDRNNEPLTHAMYNLASLRELGETQRRPCTIQVPEPILRKIET
FLNHYPVESSWIAPELRLQSDDILPLGKDSGPLSDPITGKPYVPLLEAEEVRLSQSLLEL
WRRRGPVWQEAPQLPVDPHRDTILNAIEQHPVVVISGDTGCGKTTRIPQLLLERYVTEGR
GARCNVIITQPRRISAVSVAQRVSHELGPSLRRNVGFQVRLESKPPSRGGALLFCTVGIL
LRKLQSNPSLEGVSHVIVDEVHERDVNTDFLLILLKGLQRLNPALRLVLMSATGDNERFS
RYFGGCPVIKVPGFMYPVKEHYLEDILAKLGKHQYLHRHRHHESEDECALDLDLVTDLVL
HIDARGEPGGILCFLPGWQEIKGVQQRLQEALGMHESKYLILPVHSNIPMMDQKAIFQQP
PVGVRKIVLATNIAETSITINDIVHVVDSGLHKEERYDLKTKVSCLETVWVSRANVIQRR
GRAGRCQSGFAYHLFPRSRLEKMVPFQVPEILRTPLENLVLQAKIHMPEKTAVEFLSKAV
DSPNIKAVDEAVILLQEIGVLDQREYLTTLGQRLAHISTDPRLAKAIVLAAIFRCLHPLL
VVVSCLTRDPFSSSLQNRAEVDKVKALLSHDSGSDHLAFVRAVAGWEEVLRWQDRSSREN
YLEENLLYAPSLRFIHGLIKQFSENIYEAFLVGKPSDCTLASAQCNEYSEEEELVKGVLM
AGLYPNLIQVRQGKVTRQGKFKPNSVTYRTKSGNILLHKSTINREATRLRSRWLTYFMAV
KSNGSVFVRDSSQVHPLAVLLLTDGDVHIRDDGRRATISLSDSDLLRLEGDSRTVRLLKE
LRRALGRMVERSLRSELAALPPSVQEEHGQLLALLAELLRGPCGSFDVRKTADD
Sequence length 1194
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Moderate intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Show/Hide Text Mining Associations (10)
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 36163369
Aphasia Associate 29100085
Congenital Abnormalities Associate 31422817
Developmental Disabilities Associate 29100085, 31256877
Frontotemporal Dementia Associate 36163369
Gait Disorders Neurologic Associate 29100085
Intellectual Disability Associate 29100085, 31422817
Mitochondrial Diseases Associate 36163369
Neoplasms Associate 32577795
Speech Disorders Associate 29100085