| Entrez Gene ID | 285175 |
|---|---|
| Official Gene Symbol | UNC80 (GeneCards) |
| Full name | unc-80 homolog, NALCN channel complex subunit |
| Location | 2q34 |
| Other ids | Vega : OTTHUMG00000132963 MIM : 612636 HGNC : HGNC:26582 Ensembl : ENSG00000144406 |
| Other names | UNC-80, C2orf21 |
| 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] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 3169 | 285175 | UNC80 | 2 | 210690682 | 210690682 | Asymptomatic | HiSeq X Ten |
| 24892 | 285175 | UNC80 | 2 | 210789521 | 210789521 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29673 | 285175 | UNC80 | 2 | 210745771 | 210745771 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |