• Gene id: 10913

Gene Summary

• Gene Symbol: EDAR   Gene   UCSC   Ensembl
• Aliases: DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1
• Gene name: ectodysplasin A receptor
• Alternate names: tumor necrosis factor receptor superfamily member EDAR, EDA-A1 receptor, anhidrotic ectodysplasin receptor 1, downless homolog, downless, mouse, homolog of, ectodermal dysplasia receptor, ectodysplasin 1, anhidrotic receptor,
• Gene location: 2q13 (108989255: 108894470)     Exons: 12     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways.

Protein Summary

• Protein general information: Q9UNE0  
  • Name: Tumor necrosis factor receptor superfamily member EDAR (Anhidrotic ectodysplasin receptor 1) (Downless homolog) (EDA A1 receptor) (Ectodermal dysplasia receptor) (Ectodysplasin A receptor)
  • Length: 448  
  • Mass: 48582
  • Tissue specificity: Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.
• Sequence:

  MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSCGYGTKDEDYGCVPCP
  AEKFSKGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVG
  ATSGASANFPGTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPACCTSHP
  GKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDEEPAPDKQGSPEL
  CLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEKAVVKTWR
  HLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS

• Structural information:
  • Protein Domains: (358..43-)
    (/note="Death"-)
  • Interpro: IPR011029  IPR034052  
  • CDD: cd13421
  • STRING: ENSP00000258443
• Other Databases: GeneCards:  EDAR  Malacards:  EDAR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004888	transmembrane signaling receptor activity	IDA	molecular function
GO:0008544	epidermis development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0046330	positive regulation of JNK cascade	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	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:0001942	hair follicle development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0060662	salivary gland cavitation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Hypohidrotic ectodermal dysplasia	KEGG:H00651
Hypohidrotic ectodermal dysplasia	KEGG:H00651
Dysplasia	PMID:10431241
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq