SIGLEC8
Description
The SIGLEC8 (sialic acid binding Ig like lectin 8) is a protein-coding gene located on chromosome 19.
Siglec-8, also known as Sialoadhesin family member 2, is a protein encoded by the SIGLEC8 gene located on chromosome 19q13.4. It belongs to the CD33-related siglec subfamily of transmembrane proteins. Siglec-8 was first identified by screening for CD33 homologs in a cDNA library from a patient with idiopathic hypereosinophilic syndrome. Siglec-8 mRNA is highly expressed in lung, PBMCs, spleen, and kidney. Siglec-8 is expressed by human eosinophils, mast cells, and to a lesser extent, basophils. It is expressed late in development, appearing in eosinophils at day 12 of in vitro differentiation and in mast cells at 4 weeks.
Siglec-8 is a cell adhesion molecule that binds to red blood cells in a sialic acid-dependent manner. It preferentially binds to alpha-2,3-linked sialic acid, but also binds to alpha-2,6-linked sialic acid. The sialic acid recognition site can be masked by interactions with sialic acids on the same cell surface. Siglec-8 also recognizes epitopes containing a terminal N-acetylneuraminic acid (sialic acid) and an underlying 6-O-sulfated galactose. It preferentially binds to Gal-6-sulfated sialyl-Lewis X glycan epitopes.
SIGLEC8 is also known as SAF2, SIGLEC-8, SIGLEC8L.
Associated Diseases
- eosinophilic gastroenteritis
- duodenitis
- neutrophil immunodeficiency syndrome
- chronic idiopathic urticaria
- breast cancer
- isolated agammaglobulinemia
- immunodeficiency, common variable, 4
- severe combined immunodeficiency due to CARD11 deficiency
- eosinophil peroxidase deficiency
- immunodeficiency 62
- immunodeficiency 53
- immunodeficiency 18
- linear and whorled nevoid hypermelanosis
- neutropenia, severe congenital, 1, autosomal dominant
- immunodeficiency 51
- idiopathic CD4 lymphocytopenia
