Alt. symbols: RLTPR | LRRC16C

Approved name: capping protein regulator and myosin 1 linker 2
Alt. names: RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing | RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein, leucine rich repeat containing 16C

Location: 16q22.1: 67644988 - 67657569 (+)
Gene type: protein_coding, 16 transcripts.

Scores: LoFtool: 0.772000 | pLI: 0.02235331 | LOEUF: 0.552

HGNC: 27089

NCBI: 146206, RefSeq: NG_054728.1

Ensembl: ENSG00000159753.15

LRG_ | Status: none

OMIM: 610859

Expression | ProteinAtlas

CARMIL2 (alias RLTPR) encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. This cell membrane-cytoskeleton-associated protein plays a role in the regulation of actin polymerization at the barbed end of actin filaments, preventing F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and thus generating uncapped barbed ends to enhance actin polymerization (PMID: 26466680). It has also been reported to play roles in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations to enable cell migration and invadopodia formation during wound healing (PMID: 19846667, 26578515, 26466680). It is required for CD28-mediated co-stimulation of NF-kappa-B signaling in naive T cells for their activation, maturation into T memory cells, and differentiation into T helper and T regulatory cells (PMID: 27647349, 27647348, 28112205).

Biallelic frameshift, nonsense, missense and splice site variants in CARMIL2 are associated with Immunodeficiency 58 [MIM:618131], an autosomal recessive combined immunodeficiency characterized by early-onset skin lesions – ranging from atopic and seborrheic dermatitis to psoriasiform rash, various atopies, early onset inflammatory bowel disease, eosinophilic esophagitis, or autoimmune endocrinopathy (PMID: 27896283, 29479355, 31079270, 31115454, 33723309), as well as EBV+ leimyomata (smooth mus cle tumors) (PMID: 27896283, 28112205, 28223207, 32625199). Recurrent infections include skin abscesses, warts, Molluscum contagiosum, recurrent respiratory infections, and chronic persistent infections with Candida, mycobacteria, EBV, bacteria, and viruses (PMID: 27647349, 27896283, 29479355, 34287962). Immunophenotyping is notable for defective T-cell function with reduced memory CD4+ T cells, Treg, and cTFH cell levels, as well as reduced memory B and NK cells and defective CD4+ and CD8+ T cell responses to CD3/CD28 co-stimulation (PMID: 27647349, 29479355, 34287962). [Load More]