| Entrez Gene ID | 323 |
|---|---|
| Official Gene Symbol | APBB2 (GeneCards) |
| Full name | amyloid beta precursor protein binding family B member 2 |
| Location | 4p14-p13 |
| Other ids | Vega : OTTHUMG00000160416 MIM : 602710 HGNC : HGNC:582 Ensembl : ENSG00000163697 |
| Other names | FE65L, FE65L1 |
| Summary | The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 6037 | 323 | APBB2 | 4 | 40972862 | 40972862 | Asymptomatic | HiSeq X Ten |
| 6088 | 323 | APBB2 | 4 | 40972440 | 40972440 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 6618 | 323 | APBB2 | 4 | 41076512 | 41076512 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 7382 | 323 | APBB2 | 4 | 40885107 | 40885107 | Xeroderma Pigmentosum | HiSeq X Ten HiSeq 2000 |
| 29759 | 323 | APBB2 | 4 | 40818170 | 40818170 | Autism Spectrum Disorders | HiSeq X Ten HiSeq 2000 NextSeq500 |