| Entrez Gene ID | 341640 |
|---|---|
| Official Gene Symbol | FREM2 (GeneCards) |
| Full name | FRAS1 related extracellular matrix protein 2 |
| Location | 13q13.3 |
| Other ids | Vega : OTTHUMG00000016759 MIM : 608945 HGNC : HGNC:25396 Ensembl : ENSG00000150893 |
| Other names | FRASRS2 |
| Summary | This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 17129 | 341640 | FREM2 | 13 | 39477531 | 39477531 | Asymptomatic | HiSeq X Ten |
| 17227 | 341640 | FREM2 | 13 | 39362504 | 39362504 | Asymptomatic | HiSeq X Ten |
| 17310 | 341640 | FREM2 | 13 | 39433614 | 39433614 | Asymptomatic | HiSeq X Ten |
| 17563 | 341640 | FREM2 | 13 | 39532482 | 39532482 | Asymptomatic | HiSeq X Ten |
| 17814 | 341640 | FREM2 | 13 | 39289464 | 39289464 | Cockayne syndrome | HiSeq X Ten |