DDX24

Summary

DDX24 (DEAD-box helicase 24, HGNC:13266) is a protein-coding gene on chromosome 14q32.12, encoding ATP-dependent RNA helicase DDX24 (Q9GZR7). ATP-dependent RNA helicase that plays a role in various aspects of RNA metabolism including pre-mRNA splicing and is thereby involved in different biological processes such as cell cycle regulation or innate immunity. It is a common-essential gene (DepMap: required in 95.8% of cancer cell lines).

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 mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level.

Source: NCBI Gene 57062 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 137 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 95.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_020414

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13266
Approved symbol	DDX24
Name	DEAD-box helicase 24
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000089737
Ensembl biotype	protein_coding
OMIM	606181
Entrez	57062

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 11 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000544005, ENST00000553400, ENST00000553451, ENST00000555054, ENST00000555324, ENST00000555762, ENST00000556635, ENST00000621632, ENST00000900312, ENST00000900313, ENST00000900314, ENST00000900315, ENST00000900316, ENST00000934361, ENST00000946905, ENST00000946906

RefSeq mRNA: 1 — MANE Select: NM_020414 NM_020414

CCDS: CCDS9918

Canonical transcript exons

ENST00000613280 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 129.9021 / max 6200.7614, expressed in 1821 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144673	102.9358	1821
144671	20.1190	1760
144672	6.7370	1668
144670	0.1102	49

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.32	gold quality
superior frontal gyrus	UBERON:0002661	99.30	gold quality
left testis	UBERON:0004533	99.29	gold quality
adenohypophysis	UBERON:0002196	99.19	gold quality
pituitary gland	UBERON:0000007	99.16	gold quality
primary visual cortex	UBERON:0002436	99.16	gold quality
prefrontal cortex	UBERON:0000451	99.14	gold quality
testis	UBERON:0000473	99.13	gold quality
frontal cortex	UBERON:0001870	99.12	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.12	gold quality
hypothalamus	UBERON:0001898	99.09	gold quality
right frontal lobe	UBERON:0002810	99.07	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.07	gold quality
left adrenal gland	UBERON:0001234	98.99	gold quality
cerebral cortex	UBERON:0000956	98.98	gold quality
left adrenal gland cortex	UBERON:0035825	98.97	gold quality
right adrenal gland	UBERON:0001233	98.96	gold quality
nucleus accumbens	UBERON:0001882	98.96	gold quality
cerebellum	UBERON:0002037	98.96	gold quality
cerebellar cortex	UBERON:0002129	98.96	gold quality
cerebellar hemisphere	UBERON:0002245	98.95	gold quality
adrenal gland	UBERON:0002369	98.95	gold quality
right adrenal gland cortex	UBERON:0035827	98.95	gold quality
brain	UBERON:0000955	98.92	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.87	gold quality
popliteal artery	UBERON:0002250	98.85	gold quality
tibial artery	UBERON:0007610	98.85	gold quality
anterior cingulate cortex	UBERON:0009835	98.85	gold quality
caudate nucleus	UBERON:0001873	98.84	gold quality
right uterine tube	UBERON:0001302	98.81	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-10485	yes	677.54
E-ANND-3	yes	13.08
E-HCAD-13	no	2.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting DDX24, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-3190-3P	97.61	66.95	1406
HSA-MIR-550B-3P	95.43	67.73	599

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 95.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 11)

• knockdown of a DEAD-box protein named DDX24 inhibits the packaging of HIV-1 RNA and thus diminishes viral infectivity. (PMID:18289627)
• depletion of DDX24 in cells impaired pre-rRNA processing and resulted both in abrogation of MDM2 function and in consequent p53 stabilization (PMID:24980433)
• DDX24 is a negative regulator of p53 transcriptional activity.DDX24 inhibits p300 mediated acetylation of p53. (PMID:25867071)
• p.Glu271Lys associated with malformations of major vessels (PMID:30063812)
• Identification of Prognostic RBPs in Osteosarcoma. (PMID:33754909)
• RNA Helicase DDX24 Stabilizes LAMB1 to Promote Hepatocellular Carcinoma Progression. (PMID:35763670)
• DDX24 promotes metastasis by regulating RPL5 in non-small cell lung cancer. (PMID:35864588)
• DExD/H Box Helicases DDX24 and DDX49 Inhibit Reactivation of Kaposi’s Sarcoma Associated Herpesvirus by Interacting with Viral mRNAs. (PMID:36298642)
• DDX24 Mutation Alters NPM1 Phase Behavior and Disrupts Nucleolar Homeostasis in Vascular Malformations. (PMID:37705750)
• DDX24 promotes tumor progression by mediating hexokinase-1 induced glycolysis in gastric cancer. (PMID:38043669)
• DEAD Box Helicase 24 Is Increased in the Brain in Alzheimer’s Disease and App[N-LF] Mice and Influences Presymptomatic Pathology. (PMID:38612434)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ddx24	ENSDARG00000104708
mus_musculus	Ddx24	ENSMUSG00000041645
rattus_norvegicus	Ddx24	ENSRNOG00000009166
drosophila_melanogaster	CG9143	FBGN0287774
caenorhabditis_elegans	F55F8.2	WBGENE00018890

Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), 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

ATP-dependent RNA helicase DDX24 — Q9GZR7 (reviewed: Q9GZR7)

Alternative names: DEAD box protein 24

All UniProt accessions (3): Q9GZR7, F5GYL3, G3V529

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent RNA helicase that plays a role in various aspects of RNA metabolism including pre-mRNA splicing and is thereby involved in different biological processes such as cell cycle regulation or innate immunity. Plays an inhibitory role in TP53 transcriptional activity and subsequently in TP53 controlled cell growth arrest and senescence by inhibiting its EP300 mediated acetylation. Negatively regulates cytosolic RNA-mediated innate immune signaling at least in part by affecting RIPK1/IRF7 interactions. Alternatively, possesses antiviral activity by recognizing gammaherpesvirus transcripts in the context of lytic reactivation. Plays an essential role in cell cycle regulation in vascular smooth muscle cells by interacting with and regulating FANCA (Fanconi anemia complementation group A) mRNA. (Microbial infection) Plays a positive role in HIV-1 infection by promoting Rev-dependent nuclear export of viral RNAs and their packaging into virus particles.

Subunit / interactions. Interacts with FADD. Interacts with RIPK1; this interaction disrupts RLR signaling activation of IFN-dependent transcription factor IRF7. Interacts with NIP7. Interacts with EP300; this interaction prevents TP53 acetylation mediated by EP300. (Microbial infection) Interacts with HIV-1 virus Gag and Rev proteins.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous. Most abundant in heart and brain, but with lowest levels in thymus and small intestine.

Post-translational modifications. Ubiquitinated by MDM2 without targeting DDX24 for proteasomal degradation. Instead, polyubiquitinated DDX24 promotes interaction with NIP7, a component of pre-rRNP processing complex, and associates with pre-rRNA molecules and pre-ribosomal particles.

Induction. By type I interferons.

Similarity. Belongs to the DEAD box helicase family. DDX24/MAK5 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9GZR7-1	1	yes
Q9GZR7-2	2

RefSeq proteins (1): NP_065147* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000629	RNA-helicase_DEAD-box_CS	Conserved_site
IPR001650	Helicase_C-like	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR014014	RNA_helicase_DEAD_Q_motif	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00270, PF00271

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (30 total): modified residue 8, compositionally biased region 6, cross-link 4, region of interest 4, domain 2, short sequence motif 2, chain 1, binding site 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZR7-F1	65.35	0.23

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): 237–244

Post-translational modifications (12): 17, 60, 71, 82, 94, 287, 295, 302, 370, 624, 808, 825

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 149 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, APRELIKOVA_BRCA1_TARGETS, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, chr14q32, NAKAMURA_METASTASIS, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_NUCLEOLUS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, NAKAMURA_METASTASIS_MODEL_UP, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN

GO Biological Process (1): RNA metabolic process (GO:0016070)

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 (4): nucleolus (GO:0005730), cytoplasm (GO:0005737), membrane (GO:0016020), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	2
binding	2
cellular anatomical structure	2
nucleic acid metabolic process	1
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
catalytic activity	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

3281 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DDX24	DHX9	Q08211	586
DDX24	DHX36	Q9H2U1	581
DDX24	DHX29	Q7Z478	573
DDX24	DDX11	Q96FC9	571
DDX24	DHX33	Q9H6R0	564
DDX24	XPO1	O14980	564
DDX24	DHX15	O43143	557
DDX24	PDCD11	Q14690	529
DDX24	DDX5	P17844	490
DDX24	FBXO38	Q6PIJ6	481
DDX24	FADD	Q13158	467
DDX24	DDX1	Q92499	458
DDX24	DDX60	Q8IY21	455
DDX24	DHX30	Q7L2E3	454
DDX24	DHX40	Q8IX18	451
DDX24	MATR3	P43243	451

IntAct

326 interactions, top by confidence:

A	B	Type	Score
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
IFT57	CORO1A	psi-mi:“MI:0914”(association)	0.790
CSNK2A1	DDX24	psi-mi:“MI:0217”(phosphorylation reaction)	0.690
PTK2	TGFB1I1	psi-mi:“MI:0914”(association)	0.680
RPL14	RRP8	psi-mi:“MI:0914”(association)	0.640
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
NPM1	NVL	psi-mi:“MI:0914”(association)	0.610
AURKB	SEC16A	psi-mi:“MI:2364”(proximity)	0.570
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
TRIM44	ODAD3	psi-mi:“MI:0914”(association)	0.530
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
RRP8	NVL	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ZNF2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
TSPYL6	NME4	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
MAK16	NVL	psi-mi:“MI:0914”(association)	0.530
KNOP1	DHX15	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
RPL18A	RRP8	psi-mi:“MI:0914”(association)	0.530
ZBTB48	ZBTB24	psi-mi:“MI:0914”(association)	0.530
APBA2	HERC2	psi-mi:“MI:0914”(association)	0.530
TSPYL1	GPC3	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530

BioGRID (746): DDX24 (Affinity Capture-RNA), DDX24 (Affinity Capture-RNA), DDX24 (Affinity Capture-RNA), DDX24 (Affinity Capture-MS), DDX24 (Biochemical Activity), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS), DDX24 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5PRR9, A4IHD2, A4PBL4, B4F769, D4ACP5, F4HQE2, I3XHK1, O09053, O12944, O75417, O94762, P0DOY1, P56960, P70270, Q08D35, Q0PCS3, Q1LWH4, Q2VPA6, Q3B7N1, Q3UWM4, Q5NC05, Q5QJC2, Q5RDL2, Q5RHD1, Q5SXJ3, Q5ZJF6, Q6NU40, Q6NZP1, Q6NZQ2, Q6PFE3, Q6ZMT4, Q80Y44, Q8BGE5, Q8CGS6, Q8GT06, Q8IYD8, Q8TDG4, Q8VID5, Q92698, Q99NG0

Diamond homologs: A1CKJ0, A1CTL8, A1D405, A1D6X9, A1DMT9, A2QWW0, A2XKG2, A2XVF7, A3AVH5, A3GG51, A3LNR6, A3LP87, A3LQ55, A3LS22, A4REU9, A4RGD1, A5AA68, A5DKW3, A5DLE0, A5DPU0, A5DQF1, A5DUB2, A5DY34, A5E6W6, A6R9U4, A6ZL85, A6ZSX1, A6ZT77, A7EAY2, A7TEG8, A7TK63, A7TS37, O74393, P0C2N8, P0CQ90, P0CQ91, P0CQ92, P0CQ93, P0CR00, P0CR01

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MDM2	“up-regulates activity”	DDX24	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 229 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Peptide chain elongation	18	16.0×	6e-15
Viral mRNA Translation	18	16.0×	6e-15
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	18	15.8×	6e-15
Selenocysteine synthesis	18	15.1×	9e-15
Eukaryotic Translation Termination	18	15.1×	9e-15
Formation of a pool of free 40S subunits	19	14.9×	6e-15
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	18	14.8×	9e-15
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	18	14.8×	9e-15

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of telomere maintenance	7	17.3×	3e-05
cytoplasmic translation	19	17.0×	2e-15
ribosomal small subunit biogenesis	11	12.1×	5e-07
ribosomal large subunit biogenesis	5	10.7×	8e-03
translation	20	9.9×	8e-12
rRNA processing	14	9.6×	9e-08
nucleosome assembly	13	8.8×	7e-07
negative regulation of translation	9	8.5×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	122
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1264 predictions. Top by Δscore:

Variant	Effect	Δscore
14:94051460:CTC:C	acceptor_gain	1.0000
14:94051461:TCC:T	acceptor_loss	1.0000
14:94051462:CCT:C	acceptor_gain	1.0000
14:94051463:C:CC	acceptor_gain	1.0000
14:94051464:T:C	acceptor_gain	1.0000
14:94051464:T:TC	acceptor_gain	1.0000
14:94051470:C:CT	acceptor_gain	1.0000
14:94051472:C:CT	acceptor_gain	1.0000
14:94052992:GCTTA:G	donor_loss	1.0000
14:94052993:CTTAC:C	donor_loss	1.0000
14:94052996:A:AC	donor_gain	1.0000
14:94052996:AC:A	donor_gain	1.0000
14:94052996:ACC:A	donor_gain	1.0000
14:94052997:C:CC	donor_gain	1.0000
14:94052997:CC:C	donor_gain	1.0000
14:94052997:CCC:C	donor_gain	1.0000
14:94052997:CCCTT:C	donor_gain	1.0000
14:94053015:T:TA	donor_gain	1.0000
14:94053123:CGCTC:C	acceptor_gain	1.0000
14:94053124:GCTC:G	acceptor_gain	1.0000
14:94053125:CTC:C	acceptor_gain	1.0000
14:94053125:CTCC:C	acceptor_gain	1.0000
14:94053126:TC:T	acceptor_gain	1.0000
14:94053126:TCCT:T	acceptor_gain	1.0000
14:94053127:CC:C	acceptor_gain	1.0000
14:94053128:C:CC	acceptor_gain	1.0000
14:94053128:CTG:C	acceptor_loss	1.0000
14:94054984:A:C	donor_gain	1.0000
14:94054997:TTG:T	donor_gain	1.0000
14:94055006:T:TA	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000081904 (14:94074053 A>G), RS1000147075 (14:94075352 C>T), RS1000176612 (14:94058424 C>T), RS1000202291 (14:94068628 A>G), RS1000250016 (14:94079754 A>G), RS1000263636 (14:94062620 T>C), RS1000302284 (14:94068650 T>C,G), RS1000319161 (14:94073815 G>A), RS1000483958 (14:94050764 T>G), RS1000642887 (14:94078946 T>C), RS1000714942 (14:94062897 G>A), RS1000886265 (14:94056364 C>A,T), RS1000993931 (14:94078524 T>C), RS1001058684 (14:94062374 T>C), RS1001172261 (14:94054473 T>C)

Disease associations

OMIM: gene MIM:606181 | 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):

Study	Trait	p-value
GCST003030_7	Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder	5.000000e-06
GCST003264_31	Post bronchodilator FEV1/FVC ratio	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007679	oppositional defiant disorder measurement
EFO:0004713	FEV/FVC ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066481 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.00	Kd	100.5	nM	CHEMBL5653589
7.00	ED50	100.5	nM	CHEMBL5653589
5.53	Kd	2986	nM	CHEMBL3752910
5.53	ED50	2986	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148224: Binding affinity to human DDX24 incubated for 45 mins by Kinobead based pull down assay	kd	0.1005	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148224: Binding affinity to human DDX24 incubated for 45 mins by Kinobead based pull down assay	kd	2.9861	uM

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	3
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
TAK-243	increases sumoylation	1
testosterone enanthate	affects expression	1
chloroacetaldehyde	decreases expression	1
methylmercuric chloride	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
deoxynivalenol	increases expression	1
beta-lapachone	increases expression	1
ochratoxin A	increases expression	1
coumarin	affects phosphorylation	1
triacsin C	decreases expression	1
nivalenol	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Cisplatin	increases expression	1
Estradiol	increases expression	1
Lead	decreases expression	1
Ozone	increases abundance, affects expression	1
Plant Oils	increases expression	1
Ribonucleotides	affects binding	1
Selenium	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651266	Binding	Binding affinity to human DDX24 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

3 cell lines: 3 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B6XT	SYSUIMi001-A	Induced pluripotent stem cell	Female
CVCL_B6XU	SYSUIMi002-A	Induced pluripotent stem cell	Female
CVCL_B6XV	SYSUIMi003-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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