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.