DYTN, Official Symbol DYTNprovided by HGNC Official Full Name dystrotelinprovided by HGNC Primary source HGNC:HGNC:23279 See related Ensembl:ENSG00000232125 MIM:618510; AllianceGenome:HGNC:23279 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019] Annotation information Note: Although the evidence for the protein-coding potential of this gene is not unambiguous, RefSeq has erred on the side of annotating it as a protein-coding gene. [25 Jul 2019] Expression Low expression observed in reference dataset See more Orthologs mouse all