ECM1
Summary: This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602201 Ensembl IDEnsembl:ENSG00000143369 HGNC IDHGNC:HGNC:3153 PHARMGKB IDPA27598 Map Location1q21.2 | |||||
GO terms in ECM1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0002020 | protease binding |
| MF | IEA | GO:0005134 | interleukin-2 receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008022 | protein C-terminus binding |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IPI | GO:0043236 | laminin binding |
Gene expression in normal tissue: ECM1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ECM1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-114608 | Platelet degranulation |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ECM1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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