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Gene : SYT2 Homo sapiens

Name  ? synaptotagmin 2 Cytological Location  1q32.1
Brief Description  synaptotagmin 2
Description  This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
  • synonyms:
  • AK090672,
  • uc010pqb.3,
  • HGNC:11510,
  • CMS7,
  • SYT2,
  • SytII,
  • MYSPC,
  • synaptotagmin II,
  • OTTHUMG00000041388,
  • NM_177402
  • identifiers:
  • 127833,
  • ENSG00000143858,
  • SYT2

Genome feature

Region: gene ? Length: 119859  
Location: 1:202590596-202710454 reverse strand Cyto location: 1q32.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

514 SN Ps

5 Cross References

19 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results