CARMIL2 Gene

The CARMIL2 gene (CARMIL2 stands for "Capping Protein Regulator And Myosin 1 Linker 2") is a protein coding gene located on chromosome 16q22.1.

The CARMIL2 gene encodes a member of the CARMIL protein family (Capping Protein, Arp2/3, Myosin-I Linker). The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Decreased expression of the CARMIL2 gene has been observed in psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome (immunodeficiency 58 ) characterized by smooth muscle tumors and impaired T-cell function.

Diseases associated with CARMIL2 include:

Immunodeficiency 58

Cell membrane- and cytoskeleton-associated protein that plays a role in regulating actin polymerization. The encoded protein prevents the activity of the heterodimeric F-actin capping protein (CP) and promotes actin polymerization (Lanier MH et al. 2015).

Furthermore, it is also involved in cell migration and invadopodia formation during wound healing (Liang Y et al 2009). It is required for CD28-mediated stimulation of NF-kappa-B signaling, which is involved in activation of naive T cells, maturation into memory T cells, and differentiation into T helper and T regulatory cells (Wang Y et al. 2016)

1. Lanier MH et al (2015) CARMIL2 is a novel molecular connection between vimentin and actin essential for cell migration and invadopodia formation. Mol Biol Cell 26:4577-4588.
2. Liang Y et al (2009) Distinct roles for CARMIL isoforms in cell migration. Mol Biol Cell 20:5290-5305.
3. Schober T et al (2017) A human immunodeficiency syndrome caused by mutations in CARMIL2. Nature Commun. 8: 14209.
4. Shayegan LH et al (2020) CARMIL2-related immunodeficiency manifesting with photosensitivity. Pediatr Dermatol 37:695-697.
5. Sorte HS et al. (2016) A potential founder variant in CARMIL2/RLTRR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Molec Genet Genomic Med. 4: 604-616.
6. Wang Y et al (2016) Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. J Exp Med 213: 2413-2435.