TMEM251 and TMEM251P
TMEM251 , also known as C14orf109 is an uncharacterized gene located on chromosome 14q32.12. TMEM251 is highly conserved gene (0.69 Z score and 21.351GDI score) and the identity among orthologues and the presence of very few variants in controls points to evolutionary importance of the protein. The two isoforms, NM_001098621.1 and NM_015676.1 of the gene are encoded by alternatively spliced exons in mammals while the genomes of other vertebrates have sequences corresponding to only one of the shorter isoforms (Figure 3B). A processed pseudogene of TMEM251 long isoform, TMEM251P , which contains multiple stop codons in the corresponding reading frame is located on the reverse strand within intron 85 of ADGRV1 on chromosome 5:90326406 -90327386 (hg19) (Figure 3C). The pseudogene is present in one to two copies in all primate genomes examined and is absent from genomes of other vertebrates.