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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51428
Gene name	DEAD-box helicase 41
Gene symbol	DDX41
Synonyms (NCBI Gene)	ABSMPLPF
Chromosome	5
Chromosome location	5q35.3
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

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141601766	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs142143752	G>A	Risk-factor	Coding sequence variant, missense variant
rs200567842	C>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs376093707	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs746278774	G>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs747072227	A>G	Risk-factor	Coding sequence variant, missense variant
rs762890562	->CATC	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs774698335	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs780209663	C>A	Pathogenic	Coding sequence variant, missense variant
rs869320762	CT>TG	Risk-factor	Splice acceptor variant
rs1554111073	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554111533	C>T	Pathogenic	Splice acceptor variant
rs1554111653	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554111683	->TT	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1581805747	->A	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031540	hsa-miR-16-5p	Proteomics	18668040
MIRT032281	hsa-let-7b-5p	Proteomics	18668040
MIRT041875	hsa-miR-484	CLASH	23622248
MIRT930697	hsa-miR-1270	CLIP-seq
MIRT930698	hsa-miR-151-3p	CLIP-seq
MIRT930699	hsa-miR-185	CLIP-seq
MIRT930700	hsa-miR-2110	CLIP-seq
MIRT930701	hsa-miR-3144-5p	CLIP-seq
MIRT930702	hsa-miR-3150a-3p	CLIP-seq
MIRT930703	hsa-miR-3154	CLIP-seq
MIRT930704	hsa-miR-3191	CLIP-seq
MIRT930705	hsa-miR-3199	CLIP-seq
MIRT930706	hsa-miR-34a	CLIP-seq
MIRT930707	hsa-miR-34c-5p	CLIP-seq
MIRT930708	hsa-miR-4306	CLIP-seq
MIRT930709	hsa-miR-432	CLIP-seq
MIRT930710	hsa-miR-4456	CLIP-seq
MIRT930711	hsa-miR-4463	CLIP-seq
MIRT930712	hsa-miR-4499	CLIP-seq
MIRT930713	hsa-miR-449a	CLIP-seq
MIRT930714	hsa-miR-449b	CLIP-seq
MIRT930715	hsa-miR-4531	CLIP-seq
MIRT930716	hsa-miR-4644	CLIP-seq
MIRT930717	hsa-miR-4652-5p	CLIP-seq
MIRT930718	hsa-miR-4709-3p	CLIP-seq
MIRT930719	hsa-miR-4740-5p	CLIP-seq
MIRT930720	hsa-miR-4757-5p	CLIP-seq
MIRT930721	hsa-miR-620	CLIP-seq
MIRT930722	hsa-miR-635	CLIP-seq
MIRT930723	hsa-miR-7	CLIP-seq
MIRT1975460	hsa-miR-1915	CLIP-seq
MIRT1975461	hsa-miR-1972	CLIP-seq
MIRT1975462	hsa-miR-3136-3p	CLIP-seq
MIRT1975463	hsa-miR-4663	CLIP-seq
MIRT1975464	hsa-miR-4726-3p	CLIP-seq
MIRT1975465	hsa-miR-4778-5p	CLIP-seq
MIRT2514815	hsa-miR-4514	CLIP-seq
MIRT2514816	hsa-miR-4692	CLIP-seq
MIRT2514815	hsa-miR-4514	CLIP-seq
MIRT2514816	hsa-miR-4692	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IMP	25920683
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	35613581
GO:0003724	Function	RNA helicase activity	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 25416956, 26030138, 28514442, 32296183, 32703943, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	26712909
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IDA	25920683
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA	35613581
GO:0005829	Component	Cytosol	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	TAS	10607561
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IMP	25920683
GO:0008380	Process	RNA splicing	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030154	Process	Cell differentiation	IMP	25920683
GO:0032481	Process	Positive regulation of type I interferon production	IDA	25636800
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0140896	Process	CGAS/STING signaling pathway	IDA	25636800
GO:0140896	Process	CGAS/STING signaling pathway	IDA	35613581

MIM	HGNC	e!Ensembl
608170	18674	ENSG00000183258

Q9UJV9

Protein name

Probable ATP-dependent RNA helicase DDX41 (EC 3.6.4.13) (DEAD box protein 41) (DEAD box protein abstrakt homolog)

Protein function

Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and hematopoietic homeostasis (PubMed:34473945). Recognizes foreign or self-nucleic acids generated during microbi

PDB

2P6N , 5GVR , 5GVS , 5H1Y , 8C6J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	205 → 385	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	419 → 527	Helicase conserved C-terminal domain	Family

Sequence

MEESEPERKRARTDEVPAGGSRSEAEDEDDEDYVPYVPLRQRRQLLLQKLLQRRRKGAAE
EEQQDSGSEPRGDEDDIPLGPQSNVSLLDQHQHLKEKAEARKESAKEKQLKEEEKILESV
AEGRALMSVKEMAKGITYDDPIKTSWTPPRYVLSMSEERHERVRKKYHILVEGDGIPPPI
KSFKEMKFPAAILRGLKKKGIHHPTPIQIQGIPTILSGRDMIGIAFTGSGKTLVFTLPVI
MFCLEQEKRLPFSKREGPYGLIICPSRELARQTHGILEYYCRLLQEDSSPLLRCALCIGG
MSVKEQMETIRHGVHMMVATPGRLMDLLQKKMVSLDICRYLALDEADRMIDMGFEGDIRT
IFSYFKGQRQTLLFSATMPKKIQNFAKSALVKPVTINVGRAGAASLDVIQEVEYVKEEAK
MVYLLECLQKTPPPVLIFAEKKADVDAIHEYLLLKGVEAVAIHGGKDQEERTKAIEAFRE
GKKDVLVATDVASKGLDFPAIQHVINYDMPEEIENYVHRIGRTGRSGNTGIATTFINKAC
DESVLMDLKALLLEAKQKVPPVLQVLHCGDESMLDIGGERGCAFCGGLGHRITDCPKLEA
MQTKQVSNIGRKDYLAHSSMDF

Sequence length

622

Interactions

View interactions

	KEGG		Reactome
	Cytosolic DNA-sensing pathway		STING mediated induction of host immune responses Regulation of innate immune responses to cytosolic DNA IRF3-mediated induction of type I IFN

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs762890562, rs866179648, rs1761157695, rs377745714	RCV000193600 RCV001256170 RCV001256168 RCV001256176	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bone marrow hypocellularity	Likely pathogenic; Pathogenic	rs141601766	RCV001256169	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DDX41-related disorder	Pathogenic; Likely pathogenic	rs1411544367, rs144057590, rs754907965, rs762890562, rs141601766, rs2532088466, rs2532075547, rs2532085882, rs2532090465, rs746278774, rs866179648	RCV004752016 RCV003394152 RCV004752052 RCV004751355 RCV003907781 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DDX41-related hematologic malignancy predisposition syndrome	Likely pathogenic; Pathogenic	rs760059747, rs1411544367, rs144057590, rs753425379, rs899399494, rs754907965, rs1170971274, rs1291520734, rs2127436444, rs199675507, rs1761145210, rs762890562, rs869320762, rs141601766, rs2532076691 View all (16 more)	RCV002504637 RCV003224812 RCV003224813 RCV001761407 RCV003470918 View all (28 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal segmental glomerulosclerosis 9	Pathogenic	rs899399494	RCV005863482	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited acute myeloid leukemia	Pathogenic	rs899399494	RCV003313232	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplasia	Likely pathogenic; Pathogenic	rs141601766, rs1297703150, rs766117035	RCV001256171 RCV001256172 RCV001256167	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ACROMESOMELIC DYSPLASIA	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplastic anemia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary cancer-predisposing syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (57)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute erythroleukemia	Erythroleukemia	CTD_human_DG	30926971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia - M6a subtype	Erythroleukemia	CTD_human_DG	30926971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia - M6b subtype	Erythroleukemia	CTD_human_DG	30926971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16181624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia FAB-M6	Myeloid Leukemia	CTD_human_DG	30926971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11815632, 29037261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	37874914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	33626862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32965163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33650667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33006365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	29037261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30963592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	40596075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36165492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31240215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	32047491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DDX41-related hematologic malignancy predisposition syndrome	Hematologic Malignancy Predisposition Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	26693794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30144193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	31484648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	26712909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	26712909, 29365323, 33626862, 35671390, 37406166, 37874914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	31240215	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27174803, 27913495, 29871919, 31713024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37591941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26693794, 26712909, 30926971, 30963592, 31484648, 32868804, 33626862, 34482403, 34644397, 34916496, 35246110, 35443031, 35671390, 36322930, 37450374 View all (4 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	30963592, 37665752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25965566, 26712909, 27174803, 27210295, 28426938, 28547672, 30144193, 30963592, 31484648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	30963592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	27210295, 31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	26712909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	26712909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	34390506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26712909, 30144193, 31203998, 31484648, 31713024		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11805321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37556141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	26712909, 31484648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	31203998		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	26712909, 27502187, 28426938, 28547672, 30144193, 30963592, 31093808, 31203998, 31484648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26693794, 26712909, 30963592, 31484648, 33626862, 34644397, 35246110, 35443031, 35671390, 36322930, 36436542, 36989067, 37506341, 37665752, 37874914, 38597818, 40596075 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	30963592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25920683, 26712909, 28547672, 28637623, 31713024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16181624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	30144193		★★★★★ ★☆☆☆☆ Found in Text Mining only

DDX41 (DEAD-box helicase 41)