CLEC12A Gene
C-Type Lectin Domain Family 12 Member A
Gene Information Card
| Symbol | CLEC12A |
|---|---|
| Full Name | C-Type Lectin Domain Family 12 Member A |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 160364 ncbi.nlm.nih.gov/gene/160364 |
| Ensembl ID | ENSG00000172322 |
| UniProt ID | Q5QGZ9 |
| OMIM ID | 612088 |
| HGNC ID | 31713 |
| Aliases | CLL1, DCAL2, MICL, CD371 |
Description
CLEC12A encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded protein is a transmembrane glycoprotein expressed on myeloid cells and dendritic cells, functioning as an inhibitory receptor through an immunoreceptor tyrosine-based inhibitory motif (ITIM) in its cytoplasmic tail. It recognizes dead cells and modulates immune responses, and is a potential target for immunotherapy in acute myeloid leukemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | CLEC12A is highly expressed on AML blasts and leukemic stem cells but not on normal hematopoietic stem cells, making it a target for antibody-based therapies. | ClinVar, COSMIC |
| Myelodysplastic Syndromes (MDS) | Aberrant expression of CLEC12A on myeloid progenitors may contribute to immune evasion. | NCBI Gene, PubMed |
| Chronic Myeloid Leukemia (CML) | Overexpression reported in some CML cases, potentially linked to disease progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 4.1 | Low |
| Blood | 3.9 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | 15.2 | High expression |
| HL-60 (promyelocytic leukemia) | 11.8 | High expression |
| K-562 (CML) | 6.5 | Moderate expression |
| HEK293 (embryonic kidney) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Unknown functional impact |
| c.1024C>T (p.Arg342Trp) | Missense | <0.1% | Reported in AML |
| c.1285_1286insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1285_1286insA) likely disrupt the ITIM motif, impairing inhibitory signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • C-type lectin receptor signaling pathway | • immune response |
| • cell surface receptor signaling | • negative regulation of immune response |
| • carbohydrate binding |
Pathways
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
• C-type lectin receptors (CLRs)
Protein Summary
CLEC12A is a 265-amino-acid type II transmembrane protein with a single C-type lectin-like domain (CTLD) in the extracellular region and an ITIM motif in the cytoplasmic tail. It is expressed predominantly on myeloid cells and dendritic cells, where it recognizes dead cells and dampens inflammatory responses. The protein is a promising therapeutic target in acute myeloid leukemia due to its selective expression on leukemic stem cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLEC12A Knockout HEK293 Cell Line | EDC07543 | Human | 160364 | Details Get a Quote |
| CLEC12A Knockout HeLa Cell Line | EDJ-KQ58812 | Human | 160364 | Details Get a Quote |
| CLEC12A Knockout A-549 Cell Line | EDJ-KQ67296 | Human | 160364 | Details Get a Quote |
| CLEC12A Knockout HCT 116 Cell Line | EDJ-KQ75695 | Human | 160364 | Details Get a Quote |
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