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

    Gene ID: 162989, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See DEDD2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (42198598..42220152, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42702745..42724304, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor kainate type subunit 5 Neighboring gene zinc finger protein 574 Neighboring gene POU class 2 homeobox 2 Neighboring gene uncharacterized LOC100505622 Neighboring gene microRNA 4323 Neighboring gene zinc finger protein 526 Neighboring gene glycogen synthase kinase 3 alpha

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    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)

    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_001270614.2NP_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
      Q8WXF8
      Related
      ENSP00000470082.1, ENST00000595337.5
      Conserved Domains (1) summary
      cl14633
      Location:14119
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. NM_001270615.2NP_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:14119
      DD; Death Domain Superfamily of protein-protein interaction domains
    3. NM_133328.4NP_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
      Q8WXF8
      Related
      ENSP00000471512.1, ENST00000596251.6
      Conserved Domains (1) summary
      cl14633
      Location:14119
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      42198598..42220152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      cl14633
      Location:14119
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. XM_024451400.1XP_024307168.1  DNA-binding death effector domain-containing protein 2 isoform X1

      Conserved Domains (1) summary
      cl14633
      Location:14119
      DD; Death Domain Superfamily of protein-protein interaction domains
    3. XM_011526572.1XP_011524874.1  DNA-binding death effector domain-containing protein 2 isoform X4

      Conserved Domains (1) summary
      cd08791
      Location:14119
      DED_DEDD2; Death Effector Domain of DEDD2
    4. XM_011526571.1XP_011524873.1  DNA-binding death effector domain-containing protein 2 isoform X3

      Conserved Domains (1) summary
      cd08791
      Location:14119
      DED_DEDD2; Death Effector Domain of DEDD2
    5. XM_011526569.1XP_011524871.1  DNA-binding death effector domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011524871.1

      Conserved Domains (1) summary
      cl14633
      Location:14119
      DD; Death Domain Superfamily of protein-protein interaction domains
    6. XM_017026403.1XP_016881892.1  DNA-binding death effector domain-containing protein 2 isoform X2

    RNA

    1. XR_935758.2 RNA Sequence

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