• Gene id: 128178

Gene Summary

• Gene Symbol: EDARADD   Gene   UCSC   Ensembl
• Aliases: ECTD11A, ECTD11B, ED3, EDA3
• Gene name: EDAR associated death domain
• Alternate names: ectodysplasin-A receptor-associated adapter protein, EDAR-associated death domain protein, crinkled homolog, ectodysplasia A receptor associated death domain,
• Gene location: 1q42.3-q43 (58731973: 58708756)     Exons: 7     NC_000011.10
• Gene summary(Entrez): This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found
• OMIM: 606603

Protein Summary

• Protein general information: Q8WWZ3  
  • Name: Ectodysplasin A receptor associated adapter protein (EDAR associated death domain protein) (Protein crinkled homolog)
  • Length: 215  
  • Mass: 24802
  • Tissue specificity: Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.
• Sequence:

  MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGE
  ENGFPDSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQDLLDVIRIKLDPCHPTVKNWRNFASKWGMSY
  DELCFLEQRPQSPTLEFLLRNSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF

• Structural information:
  • Protein Domains: (123..20-)
    (/note="Death"-)
  • Interpro: IPR011029  IPR000488  IPR039200  
  • STRING: ENSP00000335076
• Other Databases: GeneCards:  EDARADD  Malacards:  EDARADD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04064	NF-kappa B signaling pathway

Diseases

Associated diseases	References
Hypohidrotic ectodermal dysplasia	KEGG:H00651
Hypohidrotic ectodermal dysplasia	KEGG:H00651
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)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq