Transmembrane BAX Inhibitor Motif Containing Protein 4 (TMBIM4)

The expanding wealth of human, model and other organism’s genomic data has allowed the identification of a distinct gene family of apoptotic related genes. Most of these genes are currently unannotated or have been subsumed under two questionably related gene families in the past. For example the transmembrane Bax inhibitor 1 (BI1) motif family has been reported to play a role in apoptosis and to consist of at least seven mammalian protein genes, GRINA, BI1, Lfg/FAIM2, Ghitm, RESC1/Tmbim1, GAAP/Tmbim4, and Tmbm1b. However, a detailed sequence and phylogenetic analysis shows that only five of these form a clear and unique protein family. Deletion of the exon VI by cassette alternative exon of human TMBIM4 generated a testis-specific short form of transcript 2, which lost the 3′ part of the domain UPF0005.