CHI3L1
chitinase 3 like 1
Summary
Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2528243368 | 1:203,148,637 | A/C | — | uncertain significance |
| rs370960745 | 1:203,148,643 | C/T | — | uncertain significance |
| rs527531482 | 1:203,148,685 | G/A | — | uncertain significance |
| rs367962164 | 1:203,148,896 | T/C | — | uncertain significance |
| rs201739718 | 1:203,148,918 | A/G | — | uncertain significance |
| rs778661215 | 1:203,148,950 | G/C | — | uncertain significance |
| rs563596931 | 1:203,148,990 | G/A | — | uncertain significance |
| rs2071580 | 1:203,149,154 | C/T | upstream gene variant | — |
| rs887208330 | 1:203,149,710 | A/G | — | uncertain significance |
| rs955305477 | 1:203,149,713 | G/C | — | uncertain significance |
| rs2528249180 | 1:203,149,725 | A/G | — | uncertain significance |
| rs777563441 | 1:203,149,762 | T/G | — | uncertain significance |
| rs144493623 | 1:203,149,769 | C/T | — | benign |
| rs2275351 | 1:203,150,073 | C/G | — | — |
| rs144986782 | 1:203,150,312 | C/T | — | uncertain significance |
| rs114837679 | 1:203,150,330 | C/T | — | uncertain significance |
| rs368942218 | 1:203,150,363 | C/T | — | uncertain significance |
| rs781483934 | 1:203,150,375 | T/C | — | uncertain significance |
| rs12141494 | 1:203,151,425 | G/A | intron variant | — |
| rs746134735 | 1:203,151,868 | T/C | — | uncertain significance |
| rs772980462 | 1:203,151,906 | C/T | — | likely benign |
| rs760464548 | 1:203,151,907 | G/A | — | uncertain significance |
| rs200963493 | 1:203,151,920 | C/T | — | uncertain significance |
| rs780096963 | 1:203,151,970 | G/T | — | uncertain significance |
| rs2297839 | 1:203,152,184 | C/T | intron variant | — |
| rs880633 | 1:203,152,801 | T/C | missense variant | — |
| rs776900162 | 1:203,152,846 | G/T | — | uncertain significance |
| rs367636349 | 1:203,152,852 | G/A | — | uncertain significance |
| rs372451627 | 1:203,152,863 | G/A | — | uncertain significance |
| rs142590705 | 1:203,152,885 | G/A | — | uncertain significance |
| rs74793122 | 1:203,152,886 | G/T | — | benign |
| rs2071579 | 1:203,153,634 | C/A | — | — |
| rs765933629 | 1:203,153,714 | C/A | — | uncertain significance |
| rs10920578 | 1:203,154,094 | C/T | intron variant | — |
| rs199705137 | 1:203,154,370 | C/T | — | uncertain significance |
| rs750409508 | 1:203,154,411 | T/A | — | uncertain significance |
| rs778086442 | 1:203,154,436 | C/T | — | uncertain significance |
| rs746382181 | 1:203,154,457 | C/T | — | uncertain significance |
| rs368281170 | 1:203,154,483 | G/A | — | uncertain significance |
| rs2528272953 | 1:203,154,508 | C/T | — | uncertain significance |
| rs2528272961 | 1:203,154,511 | A/C | — | uncertain significance |
| rs1538372 | 1:203,154,532 | A/T | — | — |
| rs372997557 | 1:203,155,738 | G/T | — | uncertain significance |
| rs201120110 | 1:203,155,739 | C/T | — | uncertain significance |
| rs4950928 | 1:203,155,882 | G/C | regulatory region variant | risk factor |
| rs10399805 | 1:203,155,998 | G/T | — | — |
| rs10399931 | 1:203,156,080 | T/C | upstream gene variant | — |
| rs6691378 | 1:203,157,122 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.