• Gene id: 60401

Gene Summary

• Gene Symbol: EDA2R   Gene   UCSC   Ensembl
• Aliases: EDA-A2R, EDAA2R, TNFRSF27, XEDAR
• Gene name: ectodysplasin A2 receptor
• Alternate names: tumor necrosis factor receptor superfamily member 27, EDA-A2 receptor, X-linked ectodysplasin-A2 receptor, ectodysplasin A2 isoform receptor, tumor necrosis factor receptor superfamily member XEDAR,
• Gene location: Xq12 (66639302: 66594383)     Exons: 9     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin,

Protein Summary

• Protein general information: Q9HAV5  
  • Name: Tumor necrosis factor receptor superfamily member 27 (X linked ectodysplasin A2 receptor) (EDA A2 receptor)
  • Length: 297  
  • Mass: 32759
• Sequence:

  MDCQENEYWDQWGRCVTCQRCGPGQELSKDCGYGEGGDAYCTACPPRRYKSSWGHHRCQSCITCAVINRVQKVNC
  TATSNAVCGDCLPRFYRKTRIGGLQDQECIPCTKQTPTSEVQCAFQLSLVEADTPTVPPQEATLVALVSSLLVVF
  TLAFLGLFFLYCKQFFNRHCQRGGLLQFEADKTAKEESLFPVPPSKETSAESQVSENIFQTQPLNPILEDDCSST
  SGFPTQESFTMASCTSESHSHWVHSPIECTELDLQKFSSSASYTGAETLGGNTVESTGDRLELNVPFEVPSP

• Structural information:
  • Interpro: IPR001368  IPR022319  IPR034060  
  • Prosite: PS00652 PS50050
  • CDD: cd15838
  • STRING: ENSP00000379365
• Other Databases: GeneCards:  EDA2R  Malacards:  EDA2R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0038023	signaling receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	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:0046330	positive regulation of JNK cascade	IDA	biological process
GO:0016021	integral component of membrane	IC	cellular component
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:0005887	integral component of plasma membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	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:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:0010668	ectodermal cell differentiation	IC	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008544	epidermis development	NAS	biological process
GO:0005031	tumor necrosis factor-activated receptor activity	NAS	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq