• Gene id: 162989

Gene Summary

• Gene Symbol: DEDD2   Gene   UCSC   Ensembl
• Aliases: FLAME-3, FLAME3
• Gene name: death effector domain containing 2
• Alternate names: DNA-binding death effector domain-containing protein 2, DED-containing protein FLAME-3, FADD-like anti-apoptotic molecule 3,
• Gene location: 19q13.2 (29480217: 29491389)     Exons: 4     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 617078

Protein Summary

• Protein general information: Q8WXF8  
  • Name: DNA binding death effector domain containing protein 2 (DED containing protein FLAME 3) (FADD like anti apoptotic molecule 3)
  • Length: 326  
  • Mass: 36179
  • Tissue specificity: Expressed in most tissues. High levels were found in liver, kidney, heart, ovary, spleen, testes, skeletal muscle and peripheral blood leukocytes. Expression was absent or low in colon and small intestine. Expression is relatively high
• Sequence:

  MALSGSTPAPCWEEDECLDYYGMLSLHRMFEVVGGQLTECELELLAFLLDEAPGAAGGLARARSGLELLLELERR
  GQCDESNLRLLGQLLRVLARHDLLPHLARKRRRPVSPERYSYGTSSSSKRTEGSCRRRRQSSSSANSQQGQWETG
  SPPTKRQRRSRGRPSGGARRRRRGAPAAPQQQSEPARPSSEGKVTCDIRLRVRAEYCEHGPALEQGVASRRPQAL
  ARQLDVFGQATAVLRSRDLGSVVCDIKFSELSYLDAFWGDYLSGALLQALRGVFLTEALREAVGREAVRLLVSVD
  EADYEAGRRRLLLMEEEGGRRPTEAS

• Structural information:
  • Protein Domains: (25..10-)
    (/note="DED-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00065"-)
  • Interpro: IPR011029  IPR001875  IPR038856  
  • Prosite: PS50168
  • STRING: ENSP00000470082
• Other Databases: GeneCards:  DEDD2  Malacards:  DEDD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IBA	biological process
GO:0003677	DNA binding	IBA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030262	apoptotic nuclear changes	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0035556	intracellular signal transduction	NAS	biological process
GO:0016075	rRNA catabolic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0030159	signaling receptor complex adaptor activity	NAS	molecular function
GO:0019725	cellular homeostasis	NAS	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0006396	RNA processing	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R