Version: 8.0.0Date: Tue Jan 28 2025
Gene
COLEC11
- Species
- Homo sapiens
- Symbol
- COLEC11
- Name
- collectin subfamily member 11
- Synonyms
- 3MC2
- CL-11
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including calcium-dependent carbohydrate binding activity; identical protein binding activity; and monosaccharide binding activity. Involved in defense response to symbiont; positive regulation of opsonization; and proteolysis. Located in extracellular space. Implicated in 3MC syndrome 2.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR37456
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Paralogy
| Gene symbol | Rank | Alignment Length (aa) | Similarity % | Identity % | Method Count | Method Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD |
|---|---|---|---|---|---|---|
| COLEC10 | 1 | 279 | 68 | 47 | 6 of 8 | ☑ ☑☐☑☑☑☑☐ |
| SFTPD | 2 | 273 | 48 | 34 | 4 of 8 | ☑ ☑☐☐☐☑☑☐ |
| SFTPA2 | 3 | 260 | 47 | 28 | 4 of 8 | ☑ ☑☐☐☐☑☑☐ |
| SFTPA1 | 4 | 244 | 46 | 30 | 4 of 8 | ☑ ☑☐☐☐☑☑☐ |
| MBL2 | 5 | 245 | 47 | 32 | 2 of 8 | ☐ ☑☐☐☐☐☑☐ |
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| Abnormal anterior chamber morphology | ||
| Abnormal nasal morphology | ||
| Abnormal pinna morphology | ||
| Abnormal vertebral morphology | ||
| Abnormality of the vertebral column | ||
| Autosomal recessive inheritance | ||
| Bilateral cryptorchidism | ||
| Blepharophimosis | ||
| Broad forehead | ||
| Broad philtrum |
Disease Associations
Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
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Sequence Feature Viewer
- Genome location
- Chr2:3594832...3644644 + (49.81 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Must provide at least one subject
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.
Molecular Interactions
25 interactor genes based on 54 annotations
COLEC11 molecule type | Interactor gene | Interactor species | Interactor molecule type | Detection methods | Source | Reference |
|---|---|---|---|---|---|---|
protein | ART5 | Homo sapiens | protein |
| PMID:33961781 | |
protein | ASB7 | Homo sapiens | protein |
| PMID:26186194 | |
protein | ASB7 | Homo sapiens | protein |
| PMID:28514442 | |
protein | ASB7 | Homo sapiens | protein |
| PMID:33961781 | |
protein | C1QTNF6 | Homo sapiens | protein |
| PMID:32041782 | |
protein | C1QTNF6 | Homo sapiens | protein |
| PMID:32041782 | |
protein | C1QTNF6 | Homo sapiens | protein |
| PMID:32041782 | |
protein | CDC6 | Homo sapiens | protein |
| PMID:26186194 | |
protein | COL6A1 | Homo sapiens | protein |
| PMID:26186194 | |
protein | COL6A1 | Homo sapiens | protein |
| PMID:28514442 |