Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	22907
Gene name	DExH-box helicase 30
Gene symbol	DHX30
Synonyms (NCBI Gene)	DDX30NEDMIALRETCOR
Chromosome	3
Chromosome location	3p21.31
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 m

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

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
MIRT046475	hsa-miR-15b-5p	CLASH	23622248
MIRT045535	hsa-miR-149-5p	CLASH	23622248
MIRT041892	hsa-miR-484	CLASH	23622248
MIRT041576	hsa-miR-193b-3p	CLASH	23622248
MIRT040503	hsa-miR-589-3p	CLASH	23622248
MIRT038885	hsa-miR-93-3p	CLASH	23622248
MIRT038885	hsa-miR-93-3p	CLASH	23622248
MIRT052709	hsa-miR-1260b	CLASH	23622248

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
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IDA	29100085
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	29100085
GO:0003724	Function	RNA helicase activity	IEA
GO:0003725	Function	Double-stranded RNA binding	IDA	21266579
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	17932509, 21903422, 23455922, 30021884, 32707033, 33961781, 35156780, 36012204
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	29100085
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	29100085
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	23275553
GO:0005829	Component	Cytosol	IDA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0035770	Component	Ribonucleoprotein granule	IDA	25683715
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578, 25683715
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:1902775	Process	Mitochondrial large ribosomal subunit assembly	IMP	25683715

MIM	HGNC	e!Ensembl
616423	16716	ENSG00000132153

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

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral white matter morphology	Pathogenic	rs1060499733	RCV001003584
Autism	Pathogenic	rs1060499733	RCV001003584
Autism, susceptiblity to	Pathogenic	rs2549295022	RCV003313023
Intellectual disability	Pathogenic	rs1060499733	RCV001003584
Neurodevelopmental disorder with severe motor impairment and absent language	Pathogenic; Likely pathogenic	rs1559723511, rs1303348930, rs1057519436, rs753242774, rs1060499733, rs1085307451, rs1553706775, rs1553706799, rs1576517675	RCV001801336 RCV003152584 RCV003152925 RCV000532178 RCV000537639 RCV000544652 RCV000546135 RCV000557070 RCV000558538 RCV000987263
See cases	Likely pathogenic	rs2549301563	RCV003128539

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
DHX30-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs61757585, rs2549293932, rs772302527, rs2549284657, rs149493404, rs141645399, rs753961518, rs767207197, rs776647102, rs34727372, rs774766526, rs115678925, rs772855790, rs760943698, rs140467508, rs781113005 View all (1 more)	RCV003928956 RCV003404210 RCV003402274 RCV003404441 RCV003919182 RCV003938986 RCV003974211 RCV003967299 RCV003914105 RCV003959597 RCV003949783 RCV003922146 RCV003949185 RCV003944651 RCV003976773 RCV003976582

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

DHX30 (DExH-box helicase 30)