Format

Send to:

Choose Destination

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

Gene ID: 162989, updated on 2-Mar-2021

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See DEDD2 in Genome Data Viewer
Location:
19q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (42198598..42220152, complement)
105.20201022 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 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

GeneRIFs: Gene References Into Functions

What'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 
signaling receptor complex adaptor 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 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

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)

NEW Try the new Transcript table

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 Updated Annotation Release 109.20210226

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

Support Center