SYT14, Official Symbol SYT14provided by HGNC Official Full Name synaptotagmin 14provided by HGNC Primary source HGNC:HGNC:23143 See related Ensembl:ENSG00000143469 MIM:610949; AllianceGenome:HGNC:23143 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 SCAR11; sytXIV Summary This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011] Expression Biased expression in thyroid (RPKM 3.5), testis (RPKM 1.3) and 2 other tissues See more Orthologs mouse all