Entrez Gene ID | 7175 |
---|---|
Official Gene Symbol | TPR (GeneCards) |
Full name | translocated promoter region, nuclear basket protein |
Location | 1q31.1 |
Other ids | Vega : OTTHUMG00000035580 MIM : 189940 HGNC : HGNC:12017 Ensembl : ENSG00000047410 |
Other names | None |
Summary | This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008] |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
29529 | 7175 | TPR | 1 | 186344048 | 186344048 | Autism Spectrum Disorders | MiSeq |