Property Summary

NCBI Gene PubMed Count 10
PubMed Score 4.64
PubTator Score 6.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
cystic fibrosis 2.746 0.000
group 3 medulloblastoma 1.200 0.001
lung carcinoma 4.800 0.000

Gene RIF (5)

PMID Text
24275721 Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14
22527681 New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing SYT14 genes causing ataxia.
21835308 A homozygous missense mutation in SYT14, encoding synaptotagmin XIV was identified in a Japanese family in which two siblings have slow progression of a type of autosomal-recessive cerebellar ataxias.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17304550 Constitutional rearrangement of SYT14 may contribute to macrocephaly, cerebral atrophy, seizures and developmental delay.

AA Sequence

MAIEGGERTCGVHELICIRKVSPEAVGFLSAVGVFIILMLLLFLYINKKFCFENVGGFPDLGSEYSTRKN      1 - 70
SQDKIYNSYMDKDEHGSSSESEDEALGKYHEALSRTHNSRLPLADSRQRNYAWETRQKYSPLSAEYDGYS     71 - 140
SEASIDEGNCIQRMRRTPPLDELQPPPYQDDSGSPHLSCTPSEIGDSKCEFSHCSNSPRCSYNKCPSEGS    141 - 210
TGHEIESFHNKGYEEDVPSDSTAVLSPEDMSAQGSSSQLPKPFDPEPEAKYGTLDVTFDYDSQEQKLLVT    211 - 280
VTAVTDIPTYNRTGGNSWQVHLVLLPIKKQRAKTSIQRGPCPVFTETFKFNHVESEMIGNYAVRFRLYGV    281 - 350
HRMKKEKIVGEKIFYLTKLNLQGKMSLPVILEPSYNHSGCDSQMSVSEMSCSESTSSCQSLEHGSVPEIL    351 - 420
IGLLYNATTGRLSAEVIKGSHFKNLAANRPPNTYVKLTLLNSMGQEMSKCKTSIRRGQPNPVYKETFVFQ    421 - 490
VALFQLSDVTLILSVYNKRSMKRKEMIGWISLGLNSSGEEELNHWTEMKESKGQQVCRWHALLES         491 - 555
//

Text Mined References (11)

PMID Year Title
24275721 2014 Genetics of dizziness: cerebellar and vestibular disorders.
22527681 2012 Recent advances in the genetics of cerebellar ataxias.
21835308 2011 Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17304550 2007 Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15238157 2004 Synaptotagmin gene content of the sequenced genomes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12801916 2003 Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans.
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