FMOD
fibromodulin
Summary
Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148311417 | 1:203,311,542 | C/G | — | uncertain significance |
| rs149495524 | 1:203,316,423 | T/G | — | uncertain significance |
| rs201969614 | 1:203,316,507 | G/T | — | uncertain significance |
| rs2526629213 | 1:203,316,564 | T/C | — | uncertain significance |
| rs369136071 | 1:203,316,578 | C/T | — | uncertain significance |
| rs139730140 | 1:203,316,600 | C/G | — | uncertain significance |
| rs770344633 | 1:203,316,618 | C/T | — | uncertain significance |
| rs752609674 | 1:203,316,624 | C/T | — | uncertain significance |
| rs1341393343 | 1:203,316,651 | A/G | — | uncertain significance |
| rs746125671 | 1:203,316,684 | G/T | — | uncertain significance |
| rs143390804 | 1:203,316,692 | C/T | — | uncertain significance |
| rs763944124 | 1:203,316,732 | G/A | — | uncertain significance |
| rs548236044 | 1:203,316,830 | C/T | — | uncertain significance |
| rs145322178 | 1:203,316,872 | C/T | — | uncertain significance |
| rs780592241 | 1:203,316,960 | C/T | — | uncertain significance |
| rs745405873 | 1:203,316,962 | A/G | — | uncertain significance |
| rs2526631140 | 1:203,316,982 | G/T | — | uncertain significance |
| rs377579436 | 1:203,316,987 | C/T | — | uncertain significance |
| rs369386758 | 1:203,317,000 | C/G | — | uncertain significance |
| rs200131296 | 1:203,317,029 | C/T | — | uncertain significance |
| rs768840329 | 1:203,317,107 | T/G | — | uncertain significance |
| rs200392600 | 1:203,317,128 | A/G | — | uncertain significance |
| rs774670463 | 1:203,317,158 | C/T | — | uncertain significance |
| rs2526632229 | 1:203,317,173 | A/C | — | uncertain significance |
| rs773478079 | 1:203,317,176 | C/T | — | uncertain significance |
| rs1477420933 | 1:203,317,185 | C/G | — | uncertain significance |
| rs137950007 | 1:203,317,203 | C/T | — | uncertain significance |
| rs760952445 | 1:203,317,238 | G/C | — | uncertain significance |
| rs1341982179 | 1:203,317,239 | G/A | — | uncertain significance |
| rs755822195 | 1:203,317,248 | C/G | — | uncertain significance |
| rs772265764 | 1:203,317,281 | C/T | — | uncertain significance |
| rs2526633045 | 1:203,317,308 | G/T | — | uncertain significance |
| rs146564523 | 1:203,317,394 | T/C | — | uncertain significance |
| rs564818428 | 1:203,319,479 | C/G | — | — |
| rs4246549 | 1:203,321,095 | G/T | — | — |
| rs4971253 | 1:203,321,414 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.