PNKD
Summary: This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609023 Ensembl IDEnsembl:ENSG00000127838 HGNC IDHGNC:HGNC:9153 PHARMGKB IDPA33476 Map Location2q35 | |||||
GO terms in PNKD
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005634 | nucleus |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0016020 | membrane |
| BP | IEA | GO:0019243 | methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione |
| BP | IEA | GO:0032225 | regulation of synaptic transmission, dopaminergic |
| BP | IEA | GO:0042053 | regulation of dopamine metabolic process |
Gene expression in normal tissue: PNKD
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PNKD
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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. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PNKD
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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