UNC80
Summary: The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| unc-80 homolog, NALCN channel complex subunit | MIM:612636 | Ensembl:ENSG00000144406 | HGNC:HGNC:26582 | PA165697705 | 2q34 |
GO terms in UNC80
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0034220 | ion transmembrane transport |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
Gene expression in normal tissue: UNC80
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in UNC80
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-2672351 | Stimuli-sensing channels |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-983712 | Ion channel transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in UNC80
CLASSFICATION
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