Alternative titles; symbols
HGNC Approved Gene Symbol: DIP2A
Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38) : 21:46,458,891-46,583,871 (from NCBI)
By sequencing clones obtained from a size-fractionated myeloid leukemia cell line cDNA library, Nagase et al. (1996) cloned DIP2A, which they designated KIAA0184. The deduced 863-amino acid protein contains a crystallin-beta/gamma 'Greek key' motif (see 123610). Northern blot analysis revealed low expression in all tissues tested.
Mukhopadhyay et al. (2002) cloned mouse and Drosophila Dip2. The Drosophila sequence shares 61% overall identity with the human protein, and the human and mouse proteins share 100% identity along 2 amino acid stretches in the C terminus. In situ hybridization of mouse embryos detected extensive expression in the central nervous system. The expression of Dip2 in the brain after establishment of regional identities suggested to Mukhopadhyay et al. (2002) that the function of Dip2 is to provide positional cues for axon pathfinding and patterning.
Mukhopadhyay et al. (2002) determined that the mouse Dip2 gene contains about 30 exons and spans more than 50 kb.
By analysis of human-rodent hybrid cell lines, Nagase et al. (1996) mapped the DIP2A gene to chromosome 2. Winnepenninckx et al. (2007) stated that the DIP2A gene maps to chromosome 21q22.3.
By genomic sequence analysis, Mukhopadhyay et al. (2002) mapped the mouse Dip2a gene to chromosome 10.
Mukhopadhyay, M., Pelka, P., DeSousa, D., Kablar, B., Schindler, A., Rudnicki, M. A., Campos, A. R. Cloning, genomic organization and expression pattern of a novel Drosophila gene, the disco-interacting protein 2 (dip2), and its murine homolog. Gene 293: 59-65, 2002. [PubMed: 12137943] [Full Text: https://doi.org/10.1016/s0378-1119(02)00694-7]
Nagase, T., Seki, N., Ishikawa, K., Tanaka, A., Nomura, N. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 3: 17-24, 1996. [PubMed: 8724849] [Full Text: https://doi.org/10.1093/dnares/3.1.17]
Winnepenninckx, B., Debacker, K., Ramsay, J., Smeets, D., Smits, A., FitzPatrick, D. R., Kooy, R. F. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am. J. Hum. Genet. 80: 221-231, 2007. [PubMed: 17236128] [Full Text: https://doi.org/10.1086/510800]