CLEC1B
C-type lectin domain family 1 member B; encodes CLEC-2, a platelet activation receptor
Gene Information Card
| Symbol | CLEC1B |
|---|---|
| Full Name | C-type lectin domain family 1 member B |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 51266 ncbi.nlm.nih.gov/gene/51266 |
| Ensembl ID | ENSG00000163882 |
| UniProt ID | Q9P126 |
| OMIM ID | 606782 |
| HGNC ID | 24356 |
| Aliases | CLEC-2, CLEC2, PRO1384 |
Description
CLEC1B encodes CLEC-2, a type II transmembrane C-type lectin-like receptor expressed primarily on platelets and megakaryocytes. It functions as a receptor for podoplanin (PDPN), a sialoglycoprotein expressed on tumor cells and lymphatic endothelial cells. Binding of podoplanin to CLEC-2 induces platelet activation via a Syk-dependent signaling pathway, playing critical roles in hemostasis, thrombosis, and tumor metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Platelet-type bleeding disorder 19 (BDPLT19) | Loss-of-function mutations in CLEC1B impair platelet activation, leading to mild bleeding tendency | PMID: 31064749, ClinVar |
| Thrombosis | Gain-of-function or overexpression enhances platelet aggregation, contributing to thrombotic risk | PMID: 25985236 |
| Cancer metastasis | CLEC-2 interaction with podoplanin on tumor cells promotes platelet aggregation and metastatic dissemination | PMID: 20037587 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 0.0 | Not detected |
| Platelets | High (nTPM ~200) | High |
| Lung | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes | High | Major site of expression |
| Platelets | High | Functional receptor |
| HEK293 | Low | Transient expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.250C>T (p.Arg84Cys) | Missense | Rare | Loss of podoplanin binding; associated with BDPLT19 |
| c.337G>A (p.Gly113Arg) | Missense | Rare | Impaired receptor dimerization; reduced platelet activation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations (e.g., p.Arg84Cys, p.Met1Val) disrupt ligand binding or protein expression, causing platelet dysfunction and bleeding disorder BDPLT19.
Gain of Function (GOF)
Not well-characterized; overexpression in platelets may enhance aggregation and thrombotic risk.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • C-type lectin receptor signaling pathway | • platelet activation |
| • cell adhesion | • transmembrane signaling receptor activity |
| • carbohydrate binding |
Pathways
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• CLEC-2 signaling (Reactome: R-HSA-5621481)
Protein Summary
CLEC-2 is a 229-amino acid type II transmembrane protein with a single C-type lectin-like domain (CTLD). It forms homodimers on the platelet surface. Upon binding podoplanin, CLEC-2 triggers a signaling cascade involving Src family kinases, Syk, and PLCγ2, leading to platelet activation and aggregation. The protein is essential for lymphatic vascular development and hemostatic plug formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLEC1B Knockout HEK293 Cell Line | EDJ-KQ2337 | Human | 51266 | Details Get a Quote |
| CLEC1B Knockout HeLa Cell Line | EDJ-KQ56263 | Human | 51266 | Details Get a Quote |
| CLEC1B Knockout A-549 Cell Line | EDJ-KQ64752 | Human | 51266 | Details Get a Quote |
| CLEC1B Knockout HCT 116 Cell Line | EDJ-KQ73198 | Human | 51266 | Details Get a Quote |
