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

Gene ID: 162989, updated on 26-May-2016
Official Symbol
DEDD2provided by HGNC
Official Full Name
death effector domain containing 2provided by HGNC
Primary source
HGNC:HGNC:24450
See related
Ensembl:ENSG00000160570 HPRD:10868; Vega:OTTHUMG00000182763
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
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]
Orthologs
Location:
19q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (42198593..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 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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
DNA-binding death effector domain-containing protein 2
Names
DED-containing protein FLAME-3
FADD-like anti-apoptotic molecule 3

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_001270614.1NP_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, OTTHUMP00000270094, ENST00000595337, OTTHUMT00000463508
    Conserved Domains (1) summary
    cl14633
    Location:14119
    DD; Death Domain Superfamily of protein-protein interaction domains
  2. NM_001270615.1NP_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)
    AA635978, AC006486, AY125488, DC337066
    Consensus CDS
    CCDS59391.1
    UniProtKB/Swiss-Prot
    Q8WXF8
    Related
    ENSP00000336972, OTTHUMP00000270178, ENST00000336034, OTTHUMT00000463671
    Conserved Domains (1) summary
    cl14633
    Location:14119
    DD; Death Domain Superfamily of protein-protein interaction domains
  3. NM_133328.3NP_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, OTTHUMP00000270095, ENST00000596251, OTTHUMT00000463510
    Conserved Domains (1) summary
    cl14633
    Location:14119
    DD; Death Domain Superfamily of protein-protein interaction domains

RNA

  1. NR_073046.1 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, DC337066
  2. NR_073047.1 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, DA821401
  3. NR_073048.1 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, DC337066
    Related
    ENST00000593804
  4. NR_073049.1 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, DC337066
  5. NR_073050.1 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, DC337066, HY033487
  6. NR_073051.1 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, DC337066, HY033141
  7. NR_073052.1 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, DC337066

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    42198593..42220152 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526570.1XP_011524872.1  

    See identical proteins and their annotated locations for XP_011524872.1

    Conserved Domains (1) summary
    cl14633
    Location:14119
    DD; Death Domain Superfamily of protein-protein interaction domains
  2. XM_011526572.1XP_011524874.1  

    Conserved Domains (1) summary
    cd08791
    Location:14119
    DED_DEDD2; Death Effector Domain of DEDD2
  3. XM_011526571.1XP_011524873.1  

    Conserved Domains (1) summary
    cd08791
    Location:14119
    DED_DEDD2; Death Effector Domain of DEDD2
  4. XM_011526569.1XP_011524871.1  

    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

RNA

  1. XR_935758.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    42704403..42725961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)