• Gene id: 1896

Gene Summary

• Gene Symbol: EDA   Gene   UCSC   Ensembl
• Aliases: ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED
• Gene name: ectodysplasin A
• Alternate names: ectodysplasin-A, X-linked anhidroitic ectodermal dysplasia protein, oligodontia 1, tumor necrosis factor ligand 7C,
• Gene location: Xq13.1 (69616085: 70039471)     Exons: 13     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling
• OMIM: 608216

Protein Summary

• Protein general information: Q92838  
  • Name: Ectodysplasin A (Ectodermal dysplasia protein) (EDA protein) [Cleaved into: Ectodysplasin A, membrane form; Ectodysplasin A, secreted form]
  • Length: 391  
  • Mass: 41294
  • Tissue specificity: Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and u
• Sequence:

  MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRRERGAE
  SRLGGSGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEE
  SRRVRRNKRSKSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGP
  QGPPGLQGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGT
  YFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSK
  HTTFFGAIRLGEAPAS

• Structural information:
  • Protein Domains: (180..22-)
    (/note="Collagen-like"-)
  • Interpro: IPR006052  IPR008983  
  • Prosite: PS50049
  • PDB: 1RJ7 1RJ8
  • PDBsum: 1RJ7 1RJ8
  • STRING: ENSP00000363680
• Other Databases: GeneCards:  EDA  Malacards:  EDA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005102	signaling receptor binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0005123	death receptor binding	IBA	molecular function
GO:0038177	death receptor agonist activity	IBA	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0042475	odontogenesis of dentin-containing tooth	IBA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IBA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IMP	biological process
GO:0005164	tumor necrosis factor receptor binding	IEA	molecular function
GO:0006955	immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	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: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: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: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:0061153	trachea gland development	IEA	biological process
GO:0060662	salivary gland cavitation	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0001942	hair follicle development	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0060789	hair follicle placode formation	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04064	NF-kappa B signaling pathway

Diseases

Associated diseases	References
Tooth agenesis	KEGG:H00625
Hypohidrotic ectodermal dysplasia	KEGG:H00651
Tooth agenesis	KEGG:H00625
Hypohidrotic ectodermal dysplasia	KEGG:H00651
Dysplasia	PMID:8696334
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881