CARMIL2

Expressed in fetal skin.

The N-terminal leucine-rich repeat (LRR) domain is necessary for localization to vimentin filaments (PubMed:26466680). The C-terminus is necessary for localization to the cell membrane (PubMed:26578515).

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).

Immunodeficiency 58

IMD58

An autosomal recessive primary immunodeficiency characterized by a variety of infectious diseases, including mycobacterial diseases, mucocutaneous candidiasis, silent but detectable EBV viremia, and staphylococcal diseases. Patients suffer from dermatitis, esophagitis, recurrent skin abscesses and chest infections. Immunologic analysis shows defective T-cell function and deficient CD3/CD28 stimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the CARMIL family.

Expressed in all tissues tested, including thymus, spleen, colon, leukocytes, peripheral blood, skin, skin keratinocytes and skin fibroblasts. Strong expression is detected in naive and memory CD4+ and CD8+ T cells, naive and memory B cells, regulatory T cells and NK cells, whereas it is poorly expressed in monocytes (PubMed:27647349).

• Isoform 2
• Cytoplasm
• Cytoplasm
• Cytoskeleton
• Cell membrane
• Peripheral membrane protein
• Cytoplasmic side
• Cell projection
• Lamellipodium
• Cell projection
• Ruffle
• Colocalizes to dynamic vimentin filaments both in the central cytoplasm and at leading edges of migrating cells (PubMed:19846667, PubMed:26466680, PubMed:26578515). Colocalizes with F-actin, Arp2/3 complex and cortactin to leading edge lamellipodia, ruffles and macropinosomes of migrating cells (PubMed:26578515).

LRRC16C, RLTPR, CARMIL2, Capping protein regulator and myosin 1 linker 2, F-actin-uncapping protein RLTPR, Leucine-rich repeat-containing protein 16C

• entrezGene:146206
• omim:610859
• swissprot:Q6F5E8

Proteins

154689Da