Gene: SYT14

Alternate names for this Gene: SCAR11|sytXIV

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.2

Description of this Gene: synaptotagmin 14

Type of Gene: protein-coding

rs6661316 in SYT14 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2205986 in SYT14 gene and Chemical and Drug Induced Liver Injury PMID 30013178 2018 Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis.

rs11119388 in SYT14 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs2046850 in SYT14 gene and Dental caries PMID 31235808 2019 Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

rs2205986 in SYT14 gene and Multiple Sclerosis PMID 30013178 2018 Analysis of an independent cohort of IFN-β-treated MS patients identified via electronic medical records showed that rs2205986 was also associated with increased peak levels of aspartate aminotransferase (P = 7.6 × 10<sup>-5</sup>) and alkaline phosphatase (P = 4.9 × 10<sup>-4</sup>).

rs387907033 in SYT14 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 PMID 21835308 2011 Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

rs6540578 in SYT14 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.