| Entrez Gene ID | 7399 |
|---|---|
| Official Gene Symbol | USH2A (GeneCards) |
| Full name | usherin |
| Location | 1q41 |
| Other ids | Vega : OTTHUMG00000037079 MIM : 608400 HGNC : HGNC:12601 Ensembl : ENSG00000042781 |
| Other names | US2, RP39, USH2, dJ1111A8.1 |
| Summary | This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1637 | 7399 | USH2A | 1 | 216026475 | 216026475 | Asymptomatic | HiSeq X Ten |
| 1778 | 7399 | USH2A | 1 | 216129866 | 216129866 | Asymptomatic | HiSeq X Ten |
| 1855 | 7399 | USH2A | 1 | 216236643 | 216236643 | Asymptomatic | HiSeq X Ten |
| 22460 | 7399 | USH2A | 1 | 216545986 | 216545986 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 24387 | 7399 | USH2A | 1 | 216290975 | 216290975 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 24468 | 7399 | USH2A | 1 | 215920489 | 215920489 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 24557 | 7399 | USH2A | 1 | 215872869 | 215872869 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29631 | 7399 | USH2A | 1 | 216062348 | 216062348 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |