CARMIL2

Chr 16q22.1

capping protein regulator and myosin 1 linker 2

Aliases:: LRRC16C
MANE:: ENST00000334583.11

OMIM: 610859 ↗NCBI: 146206 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CARMIL2 · Q6F5E8

v62025-08-01

Predicted Aligned Error matrix for CARMIL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.1/ 100

Low

1,435 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)40%
Low(50–70)8%
Very low(< 50)40%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

severe combined immunodeficiency due to CARMIL2 deficiency
0.78
combined immunodeficiency
0.58
severe combined immunodeficiency
0.46
Combined T and B cell immunodeficiency
0.46
immunodeficiency disease
0.38
Immunodeficiency
0.38
immune system disorder
0.38
Chronic colitis
0.34
autosomal recessive congenital ichthyosis
0.27
hereditary disease
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Capping protein, Arp2/3 and myosin-I linker protein 2

Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization (PubMed:26466680). Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations (PubMed:19846667, PubMed:26466680, PubMed:26578515). Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26466680, PubMed:26578515). Required for CD28-mediated stimulation of NF-kappa-B signaling, involved in naive T cells activation, maturation into T memory cells, and differentiation into T helper and T regulatory cells (PubMed:27647348, PubMed:27647349, PubMed:28112205)