BIN1, Official Symbol BIN1provided by HGNC Official Full Name bridging integrator 1provided by HGNC Primary source HGNC:HGNC:1052 See related Ensembl:ENSG00000136717 MIM:601248; AllianceGenome:HGNC:1052 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CNM2; AMPH2; AMPHL; SH3P9 Summary This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in brain (RPKM 31.3), kidney (RPKM 18.5) and 22 other tissues See more Orthologs mouse all