EDA2R
Summary: 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, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ectodysplasin A2 receptor | MIM:300276 | Ensembl:ENSG00000131080 | HGNC:HGNC:17756 | PA134974675 | Xq12 |
GO terms in EDA2R
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | NAS | GO:0005031 | tumor necrosis factor-activated receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0038023 | signaling receptor activity |
| BP | IEA | GO:0007275 | multicellular organism development |
| BP | NAS | GO:0008544 | epidermis development |
| BP | IBA | GO:0009888 | tissue development |
| BP | IC | GO:0010668 | ectodermal cell differentiation |
| BP | TAS | GO:0033209 | tumor necrosis factor-mediated signaling pathway |
| BP | IBA | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | IBA | GO:0046330 | positive regulation of JNK cascade |
| BP | IDA | GO:0046330 | positive regulation of JNK cascade |
| BP | IDA | GO:0051092 | positive regulation of NF-kappaB transcription factor activity |
| BP | IEA | GO:0072332 | intrinsic apoptotic signaling pathway by p53 class mediator |
| CC | IEA | GO:0005622 | intracellular |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005887 | integral component of plasma membrane |
| CC | IC | GO:0016021 | integral component of membrane |
Gene expression in normal tissue: EDA2R
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EDA2R
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2858 | Ectoderm Differentiation |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-5668541 | TNFR2 non-canonical NF-kB pathway |
| reactome | R-HSA-5669034 | TNFs bind their physiological receptors |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EDA2R
CLASSFICATION
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