CARMIL2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CARMIL2 |
| Official Name | capping protein regulator and myosin 1 linker 2 [Source:HGNC Symbol;Acc:HGNC:27089] |
| Ensembl ID | ENSG00000159753 |
| Bio databases IDs | |
| Aliases | capping protein regulator and myosin 1 linker 2, RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein, leucine rich repeat containing 16C |
| Synonyms | capping protein regulator and myosin 1 linker 2, CARMIL2b, CG1399-PB, D130029J02, D130029J02Rik, Gm585, IMD58, LRRC16C, RGD1562390, RLTPR |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CARMIL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- Carmil pleckstrin homology domain
- CARMIL C-terminus
- protein phosphatase 1 regulatory subunit 42
- binding protein
- Leucine rich repeat, ribonuclease inhibitor type
- Leucine rich repeat
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
- skin cancer
- combined immunodeficiency
- severe combined immunodeficiency
- tonsillitis
- immunodeficiency type 58
- myopia
- cutaneous T-cell lymphoma
- diabetic nephropathy
role in cell
- proliferation
- production in
- binding in
- migration
- organization
- differentiation
- assembly
- disassembly
- network formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- intermediate filament cytoskeleton
- ruffle
- Cytoplasm
- actin cytoskeleton
- intercellular junctions
- immunological synapses
- cell membrane leading edge
- lamellipodia
- macropinosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CARMIL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- wound healing, spreading of cells
- positive regulation of lamellipodium assembly
- positive regulation of extracellular matrix disassembly
- negative regulation of barbed-end actin filament capping
- establishment or maintenance of cell polarity
- establishment or maintenance of monopolar cell polarity
- actin filament network formation
- positive regulation of ruffle assembly
- cell migration
- regulation of Arp2/3 complex-mediated actin nucleation
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- intermediate filament cytoskeleton
- cytoplasm
- cell leading edge
- membrane
- actin cytoskeleton
- ruffle
- macropinosome
- extrinsic to internal side of plasma membrane
- plasma membrane
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- phospholipid binding