CLEC12B
C-Type Lectin Domain Family 12 Member B
Gene Information Card
| Symbol | CLEC12B |
|---|---|
| Full Name | C-Type Lectin Domain Family 12 Member B |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 387836 ncbi.nlm.nih.gov/gene/387836 |
| Ensembl ID | ENSG00000139679 |
| UniProt ID | Q2HXU8 |
| OMIM ID | 614714 |
| HGNC ID | 24456 |
| Aliases | CLECSF2, DCAL2, MICL, CLL-1 |
Description
CLEC12B encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded protein is a transmembrane receptor expressed on myeloid cells, including monocytes, macrophages, and dendritic cells. It functions as an inhibitory receptor by recruiting phosphatases via an immunoreceptor tyrosine-based inhibitory motif (ITIM) in its cytoplasmic tail, modulating immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | CLEC12B is expressed on leukemic blasts; may serve as a target for immunotherapy. | ClinVar, COSMIC |
| Myelodysplastic Syndromes | Altered expression or mutations may contribute to dysregulated hematopoiesis. | COSMIC |
| Autoimmune Diseases | Inhibitory function suggests potential role in immune tolerance; dysregulation linked to autoimmunity. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Blood | 15.2 | Medium |
| Lymph Node | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Monocytes | 18.4 | High expression |
| Dendritic Cells (myeloid) | 22.1 | High expression |
| Macrophages | 14.7 | Medium expression |
| Neutrophils | 5.3 | Low expression |
| THP-1 | 20.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
| c.763G>A (p.Gly255Ser) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
| c.1000_1001del (p.Leu334fs) | Frameshift | <0.01% | Predicted loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu334fs) are predicted to truncate the protein, likely impairing inhibitory signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CLEC12B.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CLEC12B.
View complete mutation data：
Gene Ontology (GO)
| • carbohydrate binding | • transmembrane signaling receptor activity |
| • immune response | • cell surface receptor signaling pathway |
| • negative regulation of immune response |
Pathways
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
• C-type lectin receptors (CLRs) signaling
Protein Summary
CLEC12B is a 265-amino acid type II transmembrane glycoprotein with a single C-type lectin-like domain (CTLD) and an intracellular ITIM motif. It is predominantly expressed on myeloid cells and functions as an inhibitory receptor, dampening immune activation upon ligand binding. The protein is involved in maintaining immune homeostasis and may be exploited as a therapeutic target in myeloid malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLEC12B Knockout HEK293 Cell Line | EDJ-KQ12941 | Human | 387837 | Details Get a Quote |
| CLEC12B Knockout HeLa Cell Line | EDJ-KQ59996 | Human | 387837 | Details Get a Quote |
| CLEC12B Knockout A-549 Cell Line | EDJ-KQ68458 | Human | 387837 | Details Get a Quote |
| CLEC12B Knockout HCT 116 Cell Line | EDJ-KQ76835 | Human | 387837 | Details Get a Quote |
