| Entrez Gene ID | 8036 |
|---|---|
| Official Gene Symbol | SHOC2 (GeneCards) |
| Full name | SHOC2, leucine rich repeat scaffold protein |
| Location | 10q25.2 |
| Other ids | Vega : OTTHUMG00000019047 MIM : 602775 HGNC : HGNC:15454 Ensembl : ENSG00000108061 |
| Other names | SOC2, SUR8, SIAA0862 |
| Summary | This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 14031 | 8036 | SHOC2 | 10 | 112759644 | 112759644 | Asymptomatic | HiSeq X Ten |
| 14728 | 8036 | SHOC2 | 10 | 112711043 | 112711043 | Cockayne syndrome | HiSeq X Ten |
| 14769 | 8036 | SHOC2 | 10 | 112691396 | 112691396 | Cockayne syndrome | HiSeq X Ten |