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

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; 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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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

A005M44 (e-PCR)
- UniSTS:28976

G31114 (e-PCR)
- UniSTS:66724

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)

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
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
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

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
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
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
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
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
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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

42198598..42220134 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438315.1 → XP_047294271.1 DNA-binding death effector domain-containing protein 2 isoform X4
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
XM_047438314.1 → XP_047294270.1 DNA-binding death effector domain-containing protein 2 isoform X3
XM_047438313.1 → XP_047294269.1 DNA-binding death effector domain-containing protein 2 isoform X2

UniProtKB/Swiss-Prot

Q8NBR2, Q8NES1, Q8TAA8, Q8WXF8, Q96D35
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

XR_007066647.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

45017972..45039508 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320056.1 → XP_054176031.1 DNA-binding death effector domain-containing protein 2 isoform X4
XM_054320053.1 → XP_054176028.1 DNA-binding death effector domain-containing protein 2 isoform X1
XM_054320055.1 → XP_054176030.1 DNA-binding death effector domain-containing protein 2 isoform X3
XM_054320054.1 → XP_054176029.1 DNA-binding death effector domain-containing protein 2 isoform X2

UniProtKB/Swiss-Prot

Q8NBR2, Q8NES1, Q8TAA8, Q8WXF8, Q96D35
XM_054320057.1 → XP_054176032.1 DNA-binding death effector domain-containing protein 2 isoform X4