Gene Gene information from NCBI Gene database.
Entrez ID 8653
Gene name DEAD-box helicase 3 Y-linked
Gene symbol DDX3Y
Synonyms (NCBI Gene)
DBY
Chromosome Y
Chromosome location Yq11.221
Summary The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding,
miRNA miRNA information provided by mirtarbase database.
302
miRTarBase ID miRNA Experiments Reference
MIRT023122 hsa-miR-124-3p Microarray 18668037
MIRT032055 hsa-miR-16-5p Proteomics 18668040
MIRT046978 hsa-miR-221-3p CLASH 23622248
MIRT052727 hsa-miR-1260b CLASH 23622248
MIRT558428 hsa-miR-203a-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0003724 Function RNA helicase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
400010 2699 ENSG00000067048
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15523
Protein name ATP-dependent RNA helicase DDX3Y (EC 3.6.4.13) (DEAD box protein 3, Y-chromosomal)
Protein function Probable ATP-dependent RNA helicase. During immune response, may enhance IFNB1 expression via IRF3/IRF7 pathway (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 202 390 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 424 534 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed at the mRNA level, with highest levels in testis (PubMed:9381176). Testis-specific (at protein level). Expressed predominantly in spermatogonia, but occasionally detected in some pre-leptotene/leptotene spermatocytes (
Sequence
MSHVVVKNDPELDQQLANLDLNSEKQSGGASTASKGRYIPPHLRNREASKGFHDKDSSGW
SCSKDKDAYSSFGSRDSRGKPGYFSERGSGSRGRFDDRGRSDYDGIGNRERPGFGRFERS
GHSRWCDKSVEDDWSKPLPPSERLEQELFSGGNTGINFEKYDDIPVEATGSNCPPHIENF
SDIDMGEIIMGNIELTRYTRPTPVQKHAIPIIKGKRDLMACAQTGSGKTAAFLLPILSQI
YTDGPGEALKAVKENGRYGRRKQYPISLVLAPTRELAVQIYEEARKFSYRSRVRPCVVYG
GADIGQQIRDLERGCHLLVATPGRLVDMMERGKIGLDFCKYLVLDEADRMLDMGFEPQIR
RIVEQDTMPPKGVRHTMMFSATFPKEIQML
ARDFLDEYIFLAVGRVGSTSENITQKVVWV
EDLDKRSFLLDILGATGSDSLTLVFVETKKGADSLEDFLYHEGYACTSIHGDRSQRDREE
ALHQFRSGKSPILVATAVAARGLDISNVRHVINFDLPSDIEEYVHRIGRTGRVG
NLGLAT
SFFNEKNMNITKDLLDLLVEAKQEVPSWLENMAYEHHYKGGSRGRSKSNRFSGGFGARDY
RQSSGSSSSGFGASRGSSSRSGGGGYGNSRGFGGGGYGGFYNSDGYGGNYNSQGVDWWGN
Sequence length 660
Interactions View interactions
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
Non-obstructive azoospermia Likely pathogenic rs2521791712, rs2521805596, rs2521805721, rs2521809031 RCV003127204
RCV003127205
RCV003127206
RCV003127207
★★★★☆
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
AUTISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHROMOSOME Y MICRODELETION SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DDX3Y-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 36928034 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia BEFREE 11097428, 28190795
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 36997603 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 38217953 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 30865384 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 22365286 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 25366777
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism HPO_DG
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major Major depressive disorder Pubtator 36928034 Associate
★☆☆☆☆
Found in Text Mining only