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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
    mouse all
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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)

    Genotypes

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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