CD300A: A Key Immune Receptor in Hematopoietic Regulation and Disease
Comprehensive genomic, transcriptomic, and functional analysis of the CD300A gene
Gene Information Card
| Symbol | CD300A |
|---|---|
| Full Name | CD300a molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 11314 ncbi.nlm.nih.gov/gene/11314 |
| Ensembl ID | ENSG00000108384 |
| UniProt ID | Q9UGN4 |
| OMIM ID | 606790 |
| HGNC ID | 19319 |
| Aliases | CMRF-35H, CMRF35H, IGSF12, IRC1, IRC2, IRp60, CD300a |
Description
CD300A encodes a type I transmembrane protein belonging to the CD300 family of immune receptors. The protein contains an immunoreceptor tyrosine-based inhibitory motif (ITIM) in its cytoplasmic tail and functions as an inhibitory receptor on myeloid and lymphoid cells. It modulates immune responses by binding to phosphatidylethanolamine and phosphatidylserine on apoptotic cells, thereby regulating phagocytosis, inflammation, and cell survival. CD300A is implicated in hematopoiesis, immune tolerance, and various diseases including cancer and autoimmune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Altered CD300A expression may disrupt immune surveillance and promote leukemic cell survival | PMID: 25624458 |
| Systemic lupus erythematosus | CD300A polymorphisms associated with altered inhibitory signaling and autoantibody production | PMID: 24125923 |
| Inflammatory bowel disease | Reduced CD300A function linked to excessive inflammatory responses in gut mucosa | PMID: 27530325 |
| Chronic lymphocytic leukemia | CD300A downregulation correlates with poor prognosis and immune evasion | PMID: 29348548 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lung | 8.7 | Low |
| Whole blood | 6.3 | Low |
| Lymph node | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | 15.8 | High expression |
| K-562 (chronic myelogenous leukemia) | 11.2 | Moderate expression |
| HL-60 (promyelocytic leukemia) | 9.5 | Moderate expression |
| Jurkat (T-cell leukemia) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.02% (gnomAD) | May alter ligand binding |
| c.1024G>A (p.Gly342Ser) | Missense | 0.01% (gnomAD) | Potential effect on ITIM signaling |
| c.1265_1266insA | Frameshift | <0.01% (COSMIC) | Loss of function in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.1265_1266insA) predicted to truncate the protein and eliminate ITIM-mediated inhibitory signaling.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in CD300A.
Dominant Negative (DN)
No dominant-negative mutations described for CD300A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Immune System (Reactome: R-HSA-168256)
• Innate Immune System (Reactome: R-HSA-168249)
• Fcgamma receptor (FCGR) dependent phagocytosis (Reactome: R-HSA-2029480)
• CD300 family interactions (Reactome: R-HSA-6798695)
Protein Summary
CD300A is a 299-amino acid type I transmembrane glycoprotein with a single extracellular Ig-like domain and a cytoplasmic tail containing one ITIM. It is expressed predominantly on myeloid cells (monocytes, macrophages, dendritic cells) and subsets of lymphocytes. Upon ligand engagement (phosphatidylethanolamine/phosphatidylserine), CD300A recruits phosphatases such as SHP-1 and SHP-2 to attenuate activating signals, thereby inhibiting phagocytosis, cytokine production, and cell proliferation. The protein plays a critical role in maintaining immune homeostasis and preventing autoimmunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD300A Knockout HEK293 Cell Line | EDJ-KQ7367 | Human | 11314 | Details Get a Quote |
| CD300A Knockout HeLa Cell Line | EDJ-KQ55627 | Human | 11314 | Details Get a Quote |
| CD300A Knockout A-549 Cell Line | EDJ-KQ64126 | Human | 11314 | Details Get a Quote |
| CD300A Knockout HCT 116 Cell Line | EDJ-KQ72571 | Human | 11314 | Details Get a Quote |
