Alternative titles; symbols
HGNC Approved Gene Symbol: RGPD8
Cytogenetic location: 2q14.1 Genomic coordinates (GRCh38): 2:112,368,369-112,433,645 (from NCBI)
RANBP2 (601181) appears to be the major Ran-GTP binding site at the cytoplasmic face of the nuclear pore complex. Nothwang et al. (1998) isolated genomic clones and a partial cDNA of RGPD8, which they called RANBP2-alpha. The 5-prime 1,894 nucleotides of the partial RANBP2-alpha cDNA are 98% identical to a region of RANBP2, while the 3-prime region is distinct. The sequence similarity between RANBP2 and RANBP2-alpha precisely ends at an exon-intron boundary of RANBP2. The partial RANBP2-alpha cDNA is 99% identical to a cDNA encoding BS63 (RGPD5; 612708) over 1913 nucleotides. The deduced RANBP2-alpha protein contains 755 amino acids. Northern blot analysis detected an 8-kb mRNA in a variety of tissues, and an additional 14-kb transcript was seen in pancreas and placenta.
By searching databases for intrachromosomal duplications of genes in primates but not in other metazoans, Ciccarelli et al. (2005) identified 8 RGPD genes, including RGPD8, which they called RGP8. The RGPD genes resulted from duplications of a region of human chromosome 2 containing the RANBP2 and GCC2 (612711) genes. Like other RGPD proteins, the deduced RGPD8 protein exceeds 1,700 amino acids. Most of the sequence is homologous to regions of RANBP2, except for the C terminus, which includes the GRIP domain from GCC2. PCR analysis detected RGPD8 expression in testis and HeLa cell cDNA libraries.
By FISH, physical mapping, and analysis of a PAC contig, Nothwang et al. (1998) mapped the RANBP2-alpha gene to chromosome 2q11-q12, within 3 Mb distal to RANBP2. Their findings suggested the presence of a RANBP2 gene cluster in this region of chromosome 2.
By genomic sequence analysis, Ciccarelli et al. (2005) mapped the 8 RGPD genes to chromosome 2p11.2-q13, and they named the genes according to their physical order. RGPD8 is the most telomeric of the 6 RGPD genes on chromosome 2q12.3-q13.
See RGPD1 (612704) for information on the evolution of the RGPD genes.
Ciccarelli, F. D., von Mering, C., Suyama, M., Harrington, E. D., Izaurralde E., Bork, P. Complex genomic rearrangements lead to novel primate gene function. Genome Res. 15: 343-351, 2005. [PubMed: 15710750] [Full Text: https://doi.org/10.1101/gr.3266405]
Nothwang, H. G., Rensing, C., Kubler, M., Denich, D., Brandl, B, Stubanus, M., Haaf, T., Kurnit, D., Hildebrandt, F. Identification of a novel Ran binding protein 2 related gene (RANBP2L1) and detection of a gene cluster on human chromosome 2q11-q12. Genomics 47: 383-392, 1998. [PubMed: 9480752] [Full Text: https://doi.org/10.1006/geno.1997.5119]