C12orf4
Summary: This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:616082 Ensembl IDEnsembl:ENSG00000047621 HGNC IDHGNC:HGNC:1184 PHARMGKB IDPA25505 Map Location12p13.32 | |||||
GO terms in C12orf4
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0005737 | cytoplasm |
| BP | ISS | GO:0043304 | regulation of mast cell degranulation |
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Gene expression in normal tissue: C12orf4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in C12orf4
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD748 | PHA-665752 | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in C12orf4
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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