COLEC11 Chromosome 2
Collectin subfamily member 11
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What This Gene Does
This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Collectins|C-type lectin domain containing|Complement system activation components"
Locus Type
gene with protein product
Location
2p25.3
Ensembl
ENSG00000118004
Associated Conditions (4)
Inborn genetic diseases
3MC syndrome 2
3MC syndrome
Malignant tumor of urinary bladder
Key Variants
RS762031914
Conflicting classifications of pathogenicity
Inborn genetic diseases, 3MC syndrome 2, Inborn genetic diseases
Health Risk
RS1558517363
Likely pathogenic
Health Risk
RS1572389284
Pathogenic
3MC syndrome 2, 3MC syndrome 2
Health Risk
RS2147975970
Pathogenic
3MC syndrome 2, 3MC syndrome 2
Health Risk
RS2528243821
Pathogenic
3MC syndrome, 3MC syndrome
Health Risk
RS387907075
Pathogenic
3MC syndrome 2, 3MC syndrome 2
Health Risk
RS387907076
Pathogenic
3MC syndrome 2, Malignant tumor of urinary bladder, 3MC syndrome 2
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS762031914 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 3MC syndrome 2, Inborn genetic diseases |
| RS1558517363 | Health Risk | Likely pathogenic | — |
| RS1572389284 | Health Risk | Pathogenic | 3MC syndrome 2, 3MC syndrome 2 |
| RS2147975970 | Health Risk | Pathogenic | 3MC syndrome 2, 3MC syndrome 2 |
| RS2528243821 | Health Risk | Pathogenic | 3MC syndrome, 3MC syndrome |
| RS387907075 | Health Risk | Pathogenic | 3MC syndrome 2, 3MC syndrome 2 |
| RS387907076 | Health Risk | Pathogenic | 3MC syndrome 2, Malignant tumor of urinary bladder, 3MC syndrome 2 |