CARMIL2 gene

capping protein regulator and myosin 1 linker 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

Cytogenetic Location: 16q22.1, which is the long (q) arm of chromosome 16 at position 22.1

Molecular Location: base pairs 67,644,940 to 67,657,569 on chromosome 16 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 16q22.1, which is the long (q) arm of chromosome 16 at position 22.1
  • CARMIL2b
  • IMD58
  • LRRC16C
  • RLTPR