Ras Association Domain Containing Protein 8 (RASSF8)

From human cDNA libraries derived from multiple tissues, the Mammalian Gene Collection Program Team (2002) obtained a full-length cDNA sequence corresponding to a gene, termed C12ORF2, on chromosome 12. C12ORF2 encodes a deduced protein of 392 amino acids. Debeer et al. (2002) stated that the C12ORF2 gene is widely expressed as a 6.2-kb transcript and a 2.2-kb transcript in testis.

In a family with synpolydactyly associated with metacarpal and metatarsal synostosis, Debeer et al. (2002) identified a reciprocal translocation t(12;22)(p11.2;q13.3) involving the C12ORF2 gene and the fibulin-1 gene (FBLN1. The breakpoint interrupted the 5-prime untranslated region of C12ORF2.