| Entrez Gene ID | 58155 |
|---|---|
| Official Gene Symbol | PTBP2 (GeneCards) |
| Full name | polypyrimidine tract binding protein 2 |
| Location | 1p21.3 |
| Other ids | Vega : OTTHUMG00000010685 MIM : 608449 HGNC : HGNC:17662 Ensembl : ENSG00000117569 |
| Other names | nPTB, PTBLP, brPTB |
| Summary | The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 909 | 58155 | PTBP2 | 1 | 97278901 | 97278901 | Human Skin Fibroblasts | HiSeq 2500 |
| 1929 | 58155 | PTBP2 | 1 | 97448610 | 97448610 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 1999 | 58155 | PTBP2 | 1 | 97456918 | 97456918 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 2104 | 58155 | PTBP2 | 1 | 97441974 | 97441974 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 22438 | 58155 | PTBP2 | 1 | 97278260 | 97278260 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 24600 | 58155 | PTBP2 | 1 | 97361404 | 97361404 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |