CARMIL2
Capping Protein Regulator and Myosin 1 Linker 2
Gene Information Card
| Symbol | CARMIL2 |
|---|---|
| Full Name | Capping Protein Regulator And Myosin 1 Linker 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q8N2W9 |
| OMIM ID | 618135 |
| HGNC ID | 27019 |
| Aliases | LRRC16B, MGC138290 |
Description
CARMIL2 encodes a protein that regulates actin capping protein (CP) and links it to myosin 1. It is essential for actin cytoskeleton dynamics, T-cell receptor signaling, and immune synapse formation. Loss-of-function mutations cause a primary immunodeficiency characterized by combined immunodeficiency, recurrent infections, and impaired T-cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined immunodeficiency due to CARMIL2 deficiency | Loss-of-function mutations impair actin remodeling, T-cell activation, and immune synapse formation | OMIM #618135; ClinVar; PMID: 27889057 |
| Recurrent infections (viral, bacterial, fungal) | Defective T-cell and NK-cell function due to cytoskeletal dysregulation | ClinVar; PMID: 27889057 |
| Inflammatory bowel disease-like colitis | Dysregulated immune homeostasis in gut mucosa | PMID: 27889057 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Thymus | 8.5 | Medium |
| Bone marrow | 6.2 | Low |
| Small intestine | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat T cells | 15.2 | High expression |
| Raji B cells | 9.8 | Moderate expression |
| HEK293 | 3.5 | Low expression |
| HeLa | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2023C>T (p.Arg675*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1681C>T (p.Arg561Trp) | Missense | Rare | Loss of function; impaired CP binding |
| c.2410_2411del (p.Leu804fs) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to reduced or absent protein expression and impaired actin regulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • actin filament capping |
| • cytoskeleton organization | • immune system process |
| • T cell receptor signaling pathway |
Pathways
• Actin cytoskeleton regulation
• T-cell receptor signaling pathway
Protein Summary
CARMIL2 is a 1,204-amino-acid protein that contains leucine-rich repeats and a capping protein interaction domain. It localizes to the leading edge of migrating cells and regulates actin dynamics by binding to capping protein and myosin 1. It is critical for T-cell polarization, immune synapse formation, and cytokine production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARMIL2 Knockout HEK293 Cell Line | EDJ-KQ10465 | Human | 146206 | Details Get a Quote |
| CARMIL2 Knockout HCT 116 Cell Line | EDJ-KQ37855 | Human | 146206 | Details Get a Quote |
| CARMIL2 Knockout HeLa Cell Line | EDJ-KQ37856 | Human | 146206 | Details Get a Quote |
| CARMIL2 Knockout A-549 Cell Line | EDJ-KQ67027 | Human | 146206 | Details Get a Quote |
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