NAALADL2 shows significant homology to N-acetylated alpha-linked acidic dipeptidase and transferrin receptors.

[2] The rs17531088 SNP in NAALADL2 was shown to be associated with Kawasaki disease in a large GWAS comprising two independent cohorts totalling 893 KD cases plus population and family controls.

[8] A second study of SNPs occurring within common transcription factor binding sites identified the SNP; rs10936845 within a GATA2 motif.

[10] The frequency of copy-number gains in this genetic region also increase in castrate resistant and neuroendocrine prostate cancer.

[10] Copy-number gains at the DNA level associate with mRNA expression changes in more than 450 known oncogenes, suggesting this region may be important in driving aggressive prostate cancer.

[12] In breast cancer, multicellular tumor spheroids (MTS) are 3D cell cultures which acquire differentiated cell-cell junctions and a defined microenvironment, differentially expressing a number of adhesion molecules such as EPCAM, E-cadherin, integrins and syndecans when compared to 2D monocultures.

[14][15] It has been shown that the gene encoding NAALADL2 is located within a fragile site, a genomic loci prone to breakage and subsequent repair.