CPAMD8
Summary: This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:608841 Ensembl IDEnsembl:ENSG00000160111 HGNC IDHGNC:HGNC:23228 PHARMGKB IDPA134915057 Map Location19p13.11 | |||||
GO terms in CPAMD8
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005615 | extracellular space |
| CC | IEA | GO:0005886 | plasma membrane |
| BP | IMP | GO:0001654 | eye development |
| BP | IEA | GO:0010951 | negative regulation of endopeptidase activity |
| MF | IEA | GO:0004867 | serine-type endopeptidase inhibitor activity |
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Gene expression in normal tissue: CPAMD8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CPAMD8
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CPAMD8
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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