Gene Gene information from NCBI Gene database.
Entrez ID 162989
Gene name Death effector domain containing 2
Gene symbol DEDD2
Synonyms (NCBI Gene)
FLAME-3FLAME3
Chromosome 19
Chromosome location 19q13.2
Summary This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results
miRNA miRNA information provided by mirtarbase database.
176
miRTarBase ID miRNA Experiments Reference
MIRT049538 hsa-miR-92a-3p CLASH 23622248
MIRT049538 hsa-miR-92a-3p CLASH 23622248
MIRT931767 hsa-miR-1273f CLIP-seq
MIRT931768 hsa-miR-1324 CLIP-seq
MIRT931769 hsa-miR-148a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 11741985
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617078 24450 ENSG00000160570
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WXF8
Protein name DNA-binding death effector domain-containing protein 2 (DED-containing protein FLAME-3) (FADD-like anti-apoptotic molecule 3)
Protein function May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucle
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01335 DED 26 108 Death effector domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues. High levels were found in liver, kidney, heart, ovary, spleen, testes, skeletal muscle and peripheral blood leukocytes. Expression was absent or low in colon and small intestine. Expression is relatively high
Sequence
MALSGSTPAPCWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAAGGLA
RARSGLELLLELERRGQCDESNLRLLGQLLRVLARHDLLPHLARKRRR
PVSPERYSYGTS
SSSKRTEGSCRRRRQSSSSANSQQGQWETGSPPTKRQRRSRGRPSGGARRRRRGAPAAPQ
QQSEPARPSSEGKVTCDIRLRVRAEYCEHGPALEQGVASRRPQALARQLDVFGQATAVLR
SRDLGSVVCDIKFSELSYLDAFWGDYLSGALLQALRGVFLTEALREAVGREAVRLLVSVD
EADYEAGRRRLLLMEEEGGRRPTEAS
Sequence length 326
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
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
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 37488513 Associate
★☆☆☆☆
Found in Text Mining only