The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome.
Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density.
This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone.
In human hematopoiesis, CD56, also known as neural cell adhesion molecule 1 (NCAM1) is highly expressed in natural killer (NK) cells. In addition, NCAM1 expression was found in rare subsets of T and B lymphocytes, dendritic cells, and neural or mesenchymal stem cells. NCAM1 belongs to the immunoglobulin superfamily of adhesion molecules. NCAM1 plays an important role in the regulation of neurogenesis, neurite outgrowth, proliferation, and cell migration.
This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants.
NCK(also known as NCK1 or NCKα) is a broadly expressed oncogenic adapter protein consisting of three SH3 domains and one SH2 domain. NCK1 becomes phosphorylated upon activation of variety of cell surface receptors and is involved in actin cytoskeletal organization induced by many stimuli. NCK2 (also known as NCKβ), a homolog of NCK1, has an overlapping expression pattern and redundant functions with NCK1.
The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.
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