LGALS3
galectin 3
Summary
This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76426991 | 14:55,600,939 | G/A | intron variant | — |
| rs117744883 | 14:55,602,421 | C/T | intron variant | — |
| rs1009977 | 14:55,603,002 | T/G | regulatory region variant | — |
| rs78001930 | 14:55,604,109 | G/A | — | likely benign |
| rs115891972 | 14:55,604,116 | G/A | — | benign |
| rs188973411 | 14:55,604,768 | T/C | — | benign |
| rs11538648 | 14:55,604,774 | G/A | — | likely benign |
| rs181337247 | 14:55,604,816 | C/T | — | likely benign |
| rs551028108 | 14:55,604,833 | C/G | — | uncertain significance |
| rs4644 | 14:55,604,935 | C/A | missense variant | — |
| rs4652 | 14:55,605,036 | A/C | missense variant | — |
| rs78964872 | 14:55,605,038 | C/T | — | benign |
| rs762898353 | 14:55,605,064 | A/G | — | uncertain significance |
| rs201398647 | 14:55,607,036 | G/A | — | uncertain significance |
| rs772155739 | 14:55,607,072 | A/G | — | uncertain significance |
| rs201865041 | 14:55,609,355 | G/A | — | uncertain significance |
| rs201301078 | 14:55,609,368 | C/T | — | likely benign |
| rs779907272 | 14:55,609,415 | G/A | — | uncertain significance |
| rs10148371 | 14:55,609,418 | G/A | — | benign |
| rs6573005 | 14:55,610,242 | C/G | — | — |
| rs564378578 | 14:55,611,907 | G/A | — | uncertain significance |
| rs10498475 | 14:55,612,480 | C/T | downstream gene variant | — |
| rs76424323 | 14:55,612,573 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.