| Entrez Gene ID | 9699 |
|---|---|
| Official Gene Symbol | RIMS2 (GeneCards) |
| Full name | regulating synaptic membrane exocytosis 2 |
| Location | 8q22.3 |
| Other ids | Vega : OTTHUMG00000162097 MIM : 606630 HGNC : HGNC:17283 Ensembl : ENSG00000176406 |
| Other names | OBOE, RIM2, RAB3IP3 |
| Summary | The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017] |
Found 10 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 12105 | 9699 | RIMS2 | 8 | 104985598 | 104985598 | HiSeq X Ten | |
| 12181 | 9699 | RIMS2 | 8 | 104844791 | 104844791 | Asymptomatic | HiSeq X Ten |
| 12531 | 9699 | RIMS2 | 8 | 105208992 | 105208992 | Asymptomatic | HiSeq X Ten |
| 12632 | 9699 | RIMS2 | 8 | 104963295 | 104963295 | Cockayne syndrome | HiSeq X Ten |
| 12650 | 9699 | RIMS2 | 8 | 105214664 | 105214664 | Cockayne syndrome | HiSeq X Ten |
| 12704 | 9699 | RIMS2 | 8 | 104990168 | 104990168 | Cockayne syndrome | HiSeq X Ten |
| 12721 | 9699 | RIMS2 | 8 | 104823027 | 104823027 | Cockayne syndrome | HiSeq X Ten |
| 26579 | 9699 | RIMS2 | 8 | 104988384 | 104988384 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26669 | 9699 | RIMS2 | 8 | 104807022 | 104807022 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26711 | 9699 | RIMS2 | 8 | 105307242 | 105307242 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |