Aliases for CARMIL2 Gene
- Capping Protein Regulator And Myosin 1 Linker 2 2 3 4 5
- RGD Motif, Leucine Rich Repeats, Tropomodulin Domain And Proline-Rich Containing 2 3
- RGD, Leucine-Rich Repeat, Tropomodulin And Proline-Rich Containing Protein 2 3
- Leucine-Rich Repeat-Containing Protein 16C 3 4
- Leucine Rich Repeat Containing 16C 2 3
- F-Actin-Uncapping Protein RLTPR 3 4
External Ids for CARMIL2 Gene
Previous HGNC Symbols for CARMIL2 Gene
This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]
GeneCards Summary for CARMIL2 Gene
CARMIL2 (Capping Protein Regulator And Myosin 1 Linker 2) is a Protein Coding gene. Diseases associated with CARMIL2 include Infantile Myofibromatosis and Connective Tissue Benign Neoplasm. An important paralog of this gene is CARMIL3.
UniProtKB/Swiss-Prot for CARMIL2 Gene
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:26578515, PubMed:26466680). Involved as well in cell migration and invadopodia formation during wound healing (PubMed:19846667, PubMed:26578515, PubMed:26466680).