SIGLEC12

Description

The SIGLEC12 (sialic acid binding Ig like lectin 12) is a protein-coding gene located on chromosome 19.

Siglec-XII, encoded by the SIGLEC12 gene, is a cell surface protein belonging to the sialic acid-binding immunoglobulin-like lectin (SIGLEC) family. It is characterized by an extracellular V-set immunoglobulin-like domain, followed by two C2-set immunoglobulin-like domains, and cytoplasmic tyrosine-based motifs, ITIM and SLAM-like. Upon tyrosine phosphorylation, it recruits SHP1 and SHP2 phosphatases, suggesting a role in negative regulation of macrophage signaling as an inhibitory receptor. This gene is located on chromosome 19q13.4, and alternative splicing generates different isoforms. Siglec-XII has been implicated in human carcinoma progression.

SIGLEC12 is also known as S2V, SIGLECL1, SLG, Siglec-XII.

Associated Diseases

• neutrophil immunodeficiency syndrome
• cancer
• hyper-IgM syndrome type 2
• immunodeficiency, common variable, 4
• chronic leukemia
• follicular lymphoma