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
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(33)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002151 Function G-quadruplex RNA binding IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003678 Function DNA helicase activity IBA
GO:0003682 Function Chromatin binding IDA 18063578
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Neurodevelopmental Disorder With Motor Impairment And Absent Language neurodevelopmental disorder with severe motor impairment and absent language rs1060499733, rs1085307451, rs1553706775, rs1553706799, rs1576517675, rs1057519436, rs753242774 N/A
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
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