Disease relevance of NCAM2

• In addition, the role of NCAM2 in the pathophysiology of Down syndrome is unknown [1].

High impact information on NCAM2

• RNCAM (OCAM, NCAM2) is assumed to regulate a broad zonal segregation of projections by virtue of being a homophilic cell adhesion molecule that is selectively expressed on axons terminating in a defined olfactory bulb region [2].
• Activation of STAT4 and STAT5 causes the accumulation of both of these STATs to the NCAM2 regulatory region [3].
• We identified four such regions, including one with tandem STAT5 binding sites in the first intron of the NCAM2 gene [3].
• Three of the genes (NCAM2, IFNAR1, and CRYAA) have been previously associated with human phenotypes and the polymorphisms we describe here may therefore play a role in those phenotypes [4].
• It shares strong homology with mouse IGSF-B12 and cell adhesion molecules NCAM1 and NCAM2 within their Ig-like C2-type domains [5].

Biological context of NCAM2

• Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome [1].

Anatomical context of NCAM2

• We show that STAT5 binds in vivo to the NCAM2 intron in the NKL natural killer cell line and that this binding is induced by cytokines that activate STAT5 [3].
• Using somatic cell hybrids, we mapped NCAM2 to 21q21, between markers D21S18 and D21S282 [1].

Other interactions of NCAM2

• Unlike known STAT5 binding sites, this site is found within a very large intron and resides approximately 200 kb from the first coding exon of NCAM2 [3].

References