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DEDD2 death effector domain containing 2 [ Homo sapiens (human) ]

Gene ID: 162989, updated on 2-Nov-2024

Summary

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Official Symbol
DEDD2provided by HGNC
Official Full Name
death effector domain containing 2provided by HGNC
Primary source
HGNC:HGNC:24450
See related
Ensembl:ENSG00000160570 MIM:617078; AllianceGenome:HGNC:24450
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FLAME3; FLAME-3
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 in multiple transcript variants. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 24.8), spleen (RPKM 9.9) and 25 other tissues See more
Orthologs
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Genomic context

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See DEDD2 in Genome Data Viewer
Location:
19q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (42198598..42220134, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45017972..45039508, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42702750..42724286, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene POU class 2 homeobox 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14702 Neighboring gene Sharpr-MPRA regulatory region 1615 Neighboring gene microRNA 4323 Neighboring gene long non-coding regulator of POU2F2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42653684-42654184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42654185-42654685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42659146-42659674 Neighboring gene POU2F2 antisense RNA 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42669363-42669586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42680337-42680839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42700904-42701445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42703016-42703552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14706 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42720960-42721165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42722188-42723064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42723065-42723940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10691 Neighboring gene zinc finger protein 526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10693 Neighboring gene glycogen synthase kinase 3 alpha

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Death effector domain-containing proteins. Valmiki MG, et al. Cell Mol Life Sci, 2009 Mar. PMID 18989622, Free PMC Article
  2. The death effector domain protein family. Barnhart BC, et al. Oncogene, 2003 Nov 24. PMID 14634625
  3. DEDD regulates degradation of intermediate filaments during apoptosis. Lee JC, et al. J Cell Biol, 2002 Sep 16. PMID 12235123, Free PMC Article
  4. Identification and characterization of DEDD2, a death effector domain-containing protein. Roth W, et al. J Biol Chem, 2002 Mar 1. PMID 11741985
  5. DEDD and DEDD2 associate with caspase-8/10 and signal cell death. Alcivar A, et al. Oncogene, 2003 Jan 16. PMID 12527898

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DEDD and DEDD2 may be important mediators for death receptors and that they may target caspases to the nucleus.
    Title: DEDD and DEDD2 associate with caspase-8/10 and signal cell death.
  2. FLAME-3 forms nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC
    Title: Death effector domain-containing proteins DEDD and FLAME-3 form nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor complex adaptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA processing NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in apoptotic nuclear changes IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular homeostasis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in extrinsic apoptotic signaling pathway via death domain receptors IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in extrinsic apoptotic signaling pathway via death domain receptors IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in rRNA catabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
DNA-binding death effector domain-containing protein 2
Names
DED-containing protein FLAME-3
FADD-like anti-apoptotic molecule 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001270614.2 → NP_001257543.1  DNA-binding death effector domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001257543.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AA635978, AF443591, BC027930, BX374729, DA821401
    Consensus CDS
    CCDS12597.1
    UniProtKB/Swiss-Prot
    Q8NBR2, Q8NES1, Q8TAA8, Q8WXF8, Q96D35
    Related
    ENSP00000470082.1, ENST00000595337.5
    Conserved Domains (1) summary
    cl14633
    Location:14 → 119
    DD; Death Domain Superfamily of protein-protein interaction domains

  2. NM_001270615.2 → NP_001257544.1  DNA-binding death effector domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001257544.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC006486, AY125488, DC337066
    Consensus CDS
    CCDS59391.1
    UniProtKB/Swiss-Prot
    Q8WXF8
    Related
    ENSP00000336972.4, ENST00000336034.8
    Conserved Domains (1) summary
    cl14633
    Location:14 → 119
    DD; Death Domain Superfamily of protein-protein interaction domains

  3. NM_133328.4 → NP_579874.1  DNA-binding death effector domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_579874.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AA635978, AF443591, BC027930, DC337066
    Consensus CDS
    CCDS12597.1
    UniProtKB/Swiss-Prot
    Q8NBR2, Q8NES1, Q8TAA8, Q8WXF8, Q96D35
    Related
    ENSP00000471512.1, ENST00000596251.6
    Conserved Domains (1) summary
    cl14633
    Location:14 → 119
    DD; Death Domain Superfamily of protein-protein interaction domains

RNA

  1. NR_073046.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in its internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA635978, AC098778, AK130203

  2. NR_073047.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA635978, BC027930, BM908148

  3. NR_073048.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA635978, BC027930, BX458265, CN373297
    Related
    ENST00000593804.5

  4. NR_073049.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in its internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA635978, BC027930, CT000394

  5. NR_073050.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences in its internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA635978, AC006486, AC010247, BC027930, HY033487

  6. NR_073051.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) has multiple differences in its internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA635978, AC010247, BC027930, HY033141

  7. NR_073052.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AA635978, BC027930, CR984238

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    42198598..42220134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438315.1 → XP_047294271.1  DNA-binding death effector domain-containing protein 2 isoform X4

  2. XM_017026402.2 → XP_016881891.1  DNA-binding death effector domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    cl14633
    Location:14 → 119
    DD; Death Domain Superfamily of protein-protein interaction domains

  3. XM_047438314.1 → XP_047294270.1  DNA-binding death effector domain-containing protein 2 isoform X3

  4. XM_047438313.1 → XP_047294269.1  DNA-binding death effector domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8NBR2, Q8NES1, Q8TAA8, Q8WXF8, Q96D35

  5. XM_011526572.2 → XP_011524874.1  DNA-binding death effector domain-containing protein 2 isoform X4

    Conserved Domains (1) summary
    cd08791
    Location:14 → 119
    DED_DEDD2; Death Effector Domain of DEDD2

RNA

  1. XR_007066647.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    45017972..45039508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320056.1 → XP_054176031.1  DNA-binding death effector domain-containing protein 2 isoform X4

  2. XM_054320053.1 → XP_054176028.1  DNA-binding death effector domain-containing protein 2 isoform X1

  3. XM_054320055.1 → XP_054176030.1  DNA-binding death effector domain-containing protein 2 isoform X3

  4. XM_054320054.1 → XP_054176029.1  DNA-binding death effector domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8NBR2, Q8NES1, Q8TAA8, Q8WXF8, Q96D35

  5. XM_054320057.1 → XP_054176032.1  DNA-binding death effector domain-containing protein 2 isoform X4

RNA

  1. XR_008485112.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WXF8.1 GenPept UniProtKB/Swiss-Prot:Q8WXF8

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