DDX49

gene
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Also known as FLJ10432Dbp8

Summary

DDX49 (DEAD-box helicase 49, HGNC:18684) is a protein-coding gene on chromosome 19p13.11, encoding Probable ATP-dependent RNA helicase DDX49 (Q9Y6V7). ATP-dependent RNA helicase that plays a role in various aspects of RNA metabolism including the regulation of mRNA export and the levels of pre-ribosomal RNA. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).

Enables RNA helicase activity. Involved in positive regulation of cell growth and regulation of rRNA stability. Located in nucleoplasm.

Source: NCBI Gene 54555 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 85 total
  • Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
  • MANE Select transcript: NM_019070

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18684
Approved symbolDDX49
NameDEAD-box helicase 49
Location19p13.11
Locus typegene with protein product
StatusApproved
AliasesFLJ10432, Dbp8
Ensembl geneENSG00000105671
Ensembl biotypeprotein_coding
Entrez54555

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 6 nonsense_mediated_decay, 5 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000247003, ENST00000593361, ENST00000594021, ENST00000595858, ENST00000596502, ENST00000598277, ENST00000598972, ENST00000599156, ENST00000599373, ENST00000599981, ENST00000601772, ENST00000601803, ENST00000602113, ENST00000629999, ENST00000878195, ENST00000878196, ENST00000878197, ENST00000944842

RefSeq mRNA: 1 — MANE Select: NM_019070 NM_019070

CCDS: CCDS12390

Canonical transcript exons

ENST00000247003 — 13 exons

ExonStartEnd
ENSE000031646541892812818928630
ENSE000034785751892232618922513
ENSE000034814811892488218924979
ENSE000034924431892423318924308
ENSE000035099961892260418922744
ENSE000035897291891971518919856
ENSE000035912761892058018920703
ENSE000036367511892462318924699
ENSE000036506631892796518928036
ENSE000036563271892166318921748
ENSE000036745141892776618927854
ENSE000036769551892184318921964
ENSE000036838321892630318926377

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 94.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.1975 / max 184.3204, expressed in 1815 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
17474826.19751815

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534394.53gold quality
mucosa of transverse colonUBERON:000499194.12gold quality
granulocyteCL:000009493.08gold quality
lower esophagus mucosaUBERON:003583492.81gold quality
apex of heartUBERON:000209892.28gold quality
skin of legUBERON:000151192.26gold quality
skin of abdomenUBERON:000141692.20gold quality
ganglionic eminenceUBERON:000402391.92gold quality
right lobe of liverUBERON:000111491.79gold quality
hindlimb stylopod muscleUBERON:000425291.70gold quality
C1 segment of cervical spinal cordUBERON:000646991.39gold quality
prefrontal cortexUBERON:000045191.36gold quality
right frontal lobeUBERON:000281091.25gold quality
amygdalaUBERON:000187691.20gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099191.18gold quality
cingulate cortexUBERON:000302791.16gold quality
anterior cingulate cortexUBERON:000983591.05gold quality
esophagus mucosaUBERON:000246991.02gold quality
body of pancreasUBERON:000115090.75gold quality
gastrocnemiusUBERON:000138890.68gold quality
stromal cell of endometriumCL:000225590.59gold quality
right lobe of thyroid glandUBERON:000111990.59gold quality
esophagusUBERON:000104390.57gold quality
left testisUBERON:000453390.56gold quality
lower esophagusUBERON:001347390.49gold quality
lower esophagus muscularis layerUBERON:003583390.49gold quality
nucleus accumbensUBERON:000188290.39gold quality
right testisUBERON:000453490.33gold quality
putamenUBERON:000187490.32gold quality
monocyteCL:000057690.26gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting DDX49, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3151-5P99.8663.831069
HSA-MIR-6837-5P99.2565.471632
HSA-MIR-4477A98.8369.752952
HSA-MIR-6736-3P96.9865.221342
HSA-MIR-6727-5P92.4161.9883

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 7)

  • DDX49 displays a robust ATPase and RNA helicase activity and it is involved in the export of poly (A)+ mRNAs to cytoplasm. DDX49 is localized in the nucleolus and regulates the steady state levels of pre-ribosomal 47S RNA and global translation. (PMID:29618122)
  • DDX49 is a novel biomarker and therapeutic target for lung cancer metastases. (PMID:31749282)
  • LncRNA SNHG20 promoted proliferation, invasion and inhibited cell apoptosis of lung adenocarcinoma via sponging miR-342 and upregulating DDX49. (PMID:33089952)
  • Morphine may act via DDX49 to inhibit hepatocellular carcinoma cell growth. (PMID:33952717)
  • DExD/H Box Helicases DDX24 and DDX49 Inhibit Reactivation of Kaposi’s Sarcoma Associated Herpesvirus by Interacting with Viral mRNAs. (PMID:36298642)
  • DDX49 Promotes Proliferation and Metastasis of Cervical Cancer by Regulation of AKT and Wnt/beta-Catenin Signalings. (PMID:37094865)
  • Overexpression of DDX49 in prostate cancer is associated with poor prognosis. (PMID:37106339)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioddx49ENSDARG00000012899
mus_musculusDdx49ENSMUSG00000057788
rattus_norvegicusDdx49ENSRNOG00000022368
drosophila_melanogasterDbp45AFBGN0010220
caenorhabditis_elegansWBGENE00019219

Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)

Protein

Protein identifiers

Probable ATP-dependent RNA helicase DDX49Q9Y6V7 (reviewed: Q9Y6V7)

Alternative names: DEAD box protein 49

All UniProt accessions (5): Q9Y6V7, M0QXD4, M0QZC0, M0R0K1, M0R1S3

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent RNA helicase that plays a role in various aspects of RNA metabolism including the regulation of mRNA export and the levels of pre-ribosomal RNA. Regulates the stability and synthesis of pre-ribosomal RNA and thereby regulates cell proliferation. Also possesses antiviral activity by recognizing gammaherpesvirus transcripts in the context of lytic reactivation.

Subcellular location. Nucleus. Nucleolus.

Similarity. Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q9Y6V7-11yes
Q9Y6V7-22

RefSeq proteins (1): NP_061943* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000629RNA-helicase_DEAD-box_CSConserved_site
IPR001650Helicase_C-likeDomain
IPR011545DEAD/DEAH_box_helicase_domDomain
IPR014001Helicase_ATP-bdDomain
IPR014014RNA_helicase_DEAD_Q_motifDomain
IPR027417P-loop_NTPaseHomologous_superfamily
IPR050079DEAD_box_RNA_helicaseFamily

Pfam: PF00270, PF00271

Catalyzed reactions (Rhea), 1 shown:

  • ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (15 total): splice variant 3, sequence variant 3, domain 2, short sequence motif 2, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y6V7-F186.720.57

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 46–53

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-6790901rRNA modification in the nucleus and cytosol
R-HSA-6791226Major pathway of rRNA processing in the nucleolus and cytosol

MSigDB gene sets: 151 (showing top): MODULE_97, GOBP_RIBOSOME_BIOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MORF_SNRP70, MORF_UBE2I, GOBP_GROWTH, MORF_HDAC1, MORF_UBE2N, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_182, MORF_TERF1, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MORF_SKP1A, GOBP_REGULATION_OF_CATABOLIC_PROCESS, MORF_CCNI

GO Biological Process (3): rRNA processing (GO:0006364), positive regulation of cell growth (GO:0030307), regulation of rRNA stability (GO:0044357)

GO Molecular Function (9): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
rRNA processing in the nucleus and cytosol2

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
ATP-dependent activity2
binding2
nuclear lumen2
RNA processing1
rRNA metabolic process1
ribosome biogenesis1
regulation of cell growth1
cell growth1
positive regulation of growth1
positive regulation of cellular process1
regulation of RNA stability1
regulation of rRNA catabolic process1
nucleic acid binding1
helicase activity1
ATP-dependent activity, acting on RNA1
catalytic activity, acting on RNA1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
ribonucleoside triphosphate phosphatase activity1
nucleoside phosphate binding1
heterocyclic compound binding1
nucleic acid conformation isomerase activity1
catalytic activity, acting on a nucleic acid1
catalytic activity1
intracellular membrane-bounded organelle1
cellular anatomical structure1
intracellular membraneless organelle1

Protein interactions and networks

STRING

3583 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DDX49ABT1Q9ULW3960
DDX49BYSLQ13895823
DDX49DHX8Q14562823
DDX49EMG1Q92979776
DDX49DHX15O43143760
DDX49UTP25Q68CQ4714
DDX49DHX37Q8IY37670
DDX49NMD3Q96D46661
DDX49ESF1Q9H501660
DDX49PDCD11Q14690625
DDX49NOB1Q9ULX3593
DDX49MTREXP42285580
DDX49SNRNP40Q96DI7575
DDX49UTP15Q8TED0570
DDX49DHX16O60231564

IntAct

56 interactions, top by confidence:

ABTypeScore
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
PAGE1DDX49psi-mi:“MI:0915”(physical association)0.670
STX1ADDX49psi-mi:“MI:0915”(physical association)0.560
gagSEPSECSpsi-mi:“MI:0914”(association)0.560
RNF19BPIK3R2psi-mi:“MI:0914”(association)0.530
ABT1ZNF316psi-mi:“MI:0914”(association)0.530
Shcbp1PDIA4psi-mi:“MI:0915”(physical association)0.400
gagDDX49psi-mi:“MI:0915”(physical association)0.400
DDX49PSMB2psi-mi:“MI:0915”(physical association)0.370
JUNpsi-mi:“MI:0914”(association)0.350
JUNTPM3psi-mi:“MI:0914”(association)0.350
ANGDDX39Apsi-mi:“MI:0914”(association)0.350
Prdm16ESYT2psi-mi:“MI:0914”(association)0.350
MecomESYT2psi-mi:“MI:0914”(association)0.350
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
RNF19Bpsi-mi:“MI:0914”(association)0.350
EVLRPL23psi-mi:“MI:0914”(association)0.350
SUPT5Hpsi-mi:“MI:0914”(association)0.350
CASP8CCN1psi-mi:“MI:0914”(association)0.350
PTENERAL1psi-mi:“MI:0914”(association)0.350
CALM1MYO1Cpsi-mi:“MI:0914”(association)0.350
CALM2MYO1Cpsi-mi:“MI:0914”(association)0.350
CALM3PLEKHG3psi-mi:“MI:0914”(association)0.350
LMNB1SUPT5Hpsi-mi:“MI:0914”(association)0.350
PAGE1CIBAR1psi-mi:“MI:0914”(association)0.350

BioGRID (87): DDX49 (Co-fractionation), DDX49 (Reconstituted Complex), DDX49 (Proximity Label-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Proximity Label-MS), DDX49 (Proximity Label-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), HAP1 (Two-hybrid)

ESM2 similar proteins: A1CR32, A1D405, A2XKG2, A3LP87, A3LS22, A5DLE0, A5E0U9, A6QXC1, A6RW56, A6ZSX1, A6ZT77, A7EML8, A7TK63, A7TS37, P0CR00, P0CR01, P34580, P34640, P38712, P38719, Q07886, Q09775, Q0CIQ3, Q29S22, Q2H1Q8, Q2UMH8, Q2UNB7, Q3EBD3, Q4FZF3, Q4IFI0, Q59PR3, Q5B5E7, Q61R02, Q6BGU8, Q6C799, Q6CH58, Q6CXW0, Q6FNK8, Q6FQZ0, Q756G5

Diamond homologs: A0R8U6, A1CKJ0, A1CR32, A1D405, A1D6X9, A2RB17, A2XKG2, A3LP87, A3LS22, A4R8G3, A4RGD1, A5AA68, A5DKW3, A5DLE0, A5DQF1, A5E0U9, A5E6W6, A6QRQ7, A6QXC1, A6RW56, A6SFV4, A6ZSX1, A6ZT77, A7E436, A7EML8, A7TJM9, A7TK63, A7TS37, P0C2N8, P0CR00, P0CR01, P0CR02, P0CR03, P34580, P38712, P38719, P96614, Q07886, Q0CIQ3, Q0CNX1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
mRNA splicing, via spliceosome69.8×1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

85 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance64
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1687 predictions. Top by Δscore:

VariantEffectΔscore
19:18919852:GGAGG:Gdonor_gain1.0000
19:18919853:GAGG:Gdonor_gain1.0000
19:18919853:GAGGG:Gdonor_gain1.0000
19:18919854:AGG:Adonor_gain1.0000
19:18919855:GG:Gdonor_gain1.0000
19:18919855:GGG:Gdonor_gain1.0000
19:18919856:GG:Gdonor_gain1.0000
19:18919857:G:GGdonor_gain1.0000
19:18919858:T:Adonor_loss1.0000
19:18919861:G:GGdonor_gain1.0000
19:18920573:A:AGacceptor_gain1.0000
19:18920575:CCCA:Cacceptor_loss1.0000
19:18920577:CAG:Cacceptor_loss1.0000
19:18920578:A:AGacceptor_gain1.0000
19:18920578:AGG:Aacceptor_loss1.0000
19:18920579:G:GGacceptor_gain1.0000
19:18920704:G:Cdonor_loss1.0000
19:18920704:G:GGdonor_gain1.0000
19:18920705:T:Gdonor_loss1.0000
19:18921654:C:Gacceptor_gain1.0000
19:18921662:GGGA:Gacceptor_gain1.0000
19:18921747:GG:Gdonor_gain1.0000
19:18921748:GG:Gdonor_gain1.0000
19:18921838:CCCAG:Cacceptor_loss1.0000
19:18921840:CAGAC:Cacceptor_loss1.0000
19:18921841:A:AGacceptor_gain1.0000
19:18921842:G:GTacceptor_gain1.0000
19:18921842:GA:Gacceptor_gain1.0000
19:18921842:GAC:Gacceptor_gain1.0000
19:18921842:GACA:Gacceptor_gain1.0000

AlphaMissense

3129 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:18920703:G:TR80M1.000
19:18924239:C:GC261W1.000
19:18924883:G:CG311R1.000
19:18924956:G:CR335P1.000
19:18921668:T:CL82P0.999
19:18921740:G:AG106D0.999
19:18921888:T:AV124D0.999
19:18921893:G:CA126P0.999
19:18921894:C:AA126D0.999
19:18921903:G:AG129E0.999
19:18921905:C:AR130S0.999
19:18922336:A:CE153A0.999
19:18922336:A:TE153V0.999
19:18922337:G:CE153D0.999
19:18922337:G:TE153D0.999
19:18922728:T:CF254L0.999
19:18922730:C:AF254L0.999
19:18922730:C:GF254L0.999
19:18924238:G:AC261Y0.999
19:18924675:T:CL302P0.999
19:18924680:G:CA304P0.999
19:18924681:C:AA304E0.999
19:18924684:C:TT305I0.999
19:18924693:C:AA308D0.999
19:18924699:G:CR310P0.999
19:18924884:G:AG311D0.999
19:18924887:T:CL312P0.999
19:18924952:C:GH334D0.999
19:18924962:G:AG337D0.999
19:18924964:C:GR338G0.999

dbSNP variants (sampled 300 via entrez): RS1000062098 (19:18928985 C>A), RS1000140536 (19:18925571 C>T), RS1000244 (19:18919658 A>C,G), RS1000245 (19:18920278 C>G), RS1000453351 (19:18918589 A>C), RS1000694983 (19:18924204 G>T), RS1000744008 (19:18924452 C>G,T), RS1002072452 (19:18928992 A>C,G), RS1002539667 (19:18923857 G>A), RS1002603895 (19:18923878 G>C), RS1002814135 (19:18919092 C>T), RS1003037538 (19:18927780 G>T), RS1004209945 (19:18927462 A>G), RS1004228262 (19:18917726 C>G,T), RS1004644066 (19:18927713 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST003071_4Cerebrospinal P-tau181p levels3.000000e-06
GCST003078_1Cerebrospinal fluid p-Tau181p:AB1-42 ratio3.000000e-07

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004763p-tau measurement
EFO:0007709p-tau:beta-amyloid 1-42 ratio measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, increases expression, increases methylation3
Cyclosporineincreases expression2
aristolochic acid Iincreases expression1
TAK-243increases sumoylation1
ginger extractdecreases expression, decreases reaction, increases abundance1
triphenyl phosphateaffects expression1
bisphenol Adecreases expression, decreases reaction, increases abundance1
Sunitinibincreases expression1
Amiodaroneincreases expression1
Atrazinedecreases expression1
Doxorubicindecreases expression1
Ivermectindecreases expression1
Oils, Volatiledecreases expression, decreases reaction, increases abundance1
Ribonucleotidesaffects binding1
Seleniumincreases expression1
Smokedecreases expression1
Tunicamycinincreases expression1
Aflatoxin B1affects cotreatment, decreases expression1
beta-Naphthoflavonedecreases expression, affects cotreatment1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.