Gene Gene information from NCBI Gene database.
Entrez ID 1660
Gene name DExH-box helicase 9
Gene symbol DHX9
Synonyms (NCBI Gene)
DDX9LKPMRD75NDH2NDHIIRHA
Chromosome 1
Chromosome location 1q25.3
Summary This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytopla
miRNA miRNA information provided by mirtarbase database.
54
miRTarBase ID miRNA Experiments Reference
MIRT052611 hsa-let-7a-5p CLASH 23622248
MIRT052356 hsa-let-7b-5p CLASH 23622248
MIRT051876 hsa-let-7c-5p CLASH 23622248
MIRT050296 hsa-miR-25-3p CLASH 23622248
MIRT045580 hsa-miR-149-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SOX4 Unknown 19147588;22098624
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
139
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000380 Process Alternative mRNA splicing, via spliceosome IMP 28221134
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 11038348
GO:0000993 Function RNA polymerase II complex binding IDA 11416126
GO:0001069 Function Regulatory region RNA binding IDA 28355180
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603115 2750 ENSG00000135829
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08211
Protein name ATP-dependent RNA helicase A (EC 3.6.4.13) (DEAH box protein 9) (DExH-box helicase 9) (Leukophysin) (LKP) (Nuclear DNA helicase II) (NDH II) (RNA helicase A)
Protein function Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA
PDB 3LLM , 3VYX , 3VYY , 8SZP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00035 dsrm 4 69 Double-stranded RNA binding motif Domain
PF00035 dsrm 181 250 Double-stranded RNA binding motif Domain
PF00270 DEAD 391 551 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 635 769 Helicase conserved C-terminal domain Family
PF04408 HA2 832 929 Helicase associated domain (HA2) Domain
PF07717 OB_NTP_bind 991 1074 Oligonucleotide/oligosaccharide-binding (OB)-fold Domain
Sequence
MGDVKNFLYAWCGKRKMTPSYEIRAVGNKNRQKFMCEVQVEGYNYTGMGNSTNKKDAQSN
AARDFVNYL
VRINEIKSEEVPAFGVASPPPLTDTPDTTANAEGDLPTTMGGPLPPHLALK
AENNSEVGASGYGVPGPTWDRGANLKDYYSRKEEQEVQATLESEEVDLNAGLHGNWTLEN
AKARLNQYFQKEKIQGEYKYTQVGPDHNRSFIAEMTIYIKQLGRRIFAREHGSNKKLAAQ
SCALSLVRQL
YHLGVVEAYSGLTKKKEGETVEPYKVNLSQDLEHQLQNIIQELNLEILPP
PEDPSVPVALNIGKLAQFEPSQRQNQVGVVPWSPPQSNWNPWTSSNIDEGPLAFATPEQI
SMDLKNELMYQLEQDHDLQAILQERELLPVKKFESEILEAISQNSVVIIRGATGCGKTTQ
VPQFILDDFIQNDRAAECNIVVTQPRRISAVSVAERVAFERGEEPGKSCGYSVRFESILP
RPHASIMFCTVGVLLRKLEAGIRGISHVIVDEIHERDINTDFLLVVLRDVVQAYPEVRIV
LMSATIDTSMF
CEYFFNCPIIEVYGRTYPVQEYFLEDCIQMTHFVPPPKDKKKKDKDDDG
GEDDDANCNLICGDEYGPETRLSMSQLNEKETPFELIEALLKYIETLNVPGAVLVFLPGW
NLIYTMQKHLEMNPHFGSHRYQILPLHSQIPREEQRKVFDPVPVGVTKVILSTNIAETSI
TINDVVYVIDSCKQKVKLFTAHNNMTNYATVWASKTNLEQRKGRAGRVR
PGFCFHLCSRA
RFERLETHMTPEMFRTPLHEIALSIKLLRLGGIGQFLAKAIEPPPLDAVIEAEHTLRELD
ALDANDELTPLGRILAKLPIEPRFGKMMIMGCIFYVGDAICTIAAATCFPEPFINEGKRL
GYIHRNFAGNRFSDHVALLSVFQAWDDAR
MGGEEAEIRFCEHKRLNMATLRMTWEAKVQL
KEILINSGFPEDCLLTQVFTNTGPDNNLDVVISLLAFGVYPNVCYHKEKRKILTTEGRNA
LIHKSSVNCPFSSQDMKYPSPFFVFGEKIRTRAISAKGMTLVTPLQLLLFASKK
VQSDGQ
IVLVDDWIKLQISHEAAACITGLRAAMEALVVEVTKQPAIISQLDPVNERMLNMIRQISR
PSAAGINLMIGSTRYGDGPRPPKMARYDNGSGYRRGGSSYSGGGYGGGYSSGGYGSGGYG
GSANSFRAGYGAGVGGGYRGVSRGGFRGNSGGDYRGPSGGYRGSGGFQRGGGRGAYGTGY
FGQGRGGGGY
Sequence length 1270
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RIP-mediated NFkB activation via ZBP1
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Charcot-Marie-Tooth disease Likely pathogenic rs2526370283 RCV003444183
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DHX9-related disorder Likely pathogenic; Pathogenic rs2526377906 RCV003238926
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DHX9-related neurodevelopmental disorder Likely pathogenic rs2526439955 RCV003389296
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal dominant 75 Likely pathogenic; Pathogenic rs2526377906 RCV004775366
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31497206
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31360192
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 17265494 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19197335, 28176758
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20802156, 26273641, 37550275, 37890687 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34676915, 36071875 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 14654934, 28337295
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36367018 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 30518908
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervix carcinoma Cervix carcinoma BEFREE 30518908
★☆☆☆☆
Found in Text Mining only