ESYT2 (extended synaptotagmin 2)

2014-11-01  

Identity

HGNC
LOCATION
7q36.3
LOCUSID
ALIAS
CHR2SYT,E-Syt2,FAM62B
FUSION GENES

Other Information

Locus ID:

NCBI: 57488
MIM: 616691
HGNC: 22211
Ensembl: ENSG00000117868

Variants:

dbSNP: 57488
ClinVar: 57488
TCGA: ENSG00000117868
COSMIC: ESYT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117868ENST00000251527A0A499FIX8
ENSG00000117868ENST00000275418H7BXI1
ENSG00000117868ENST00000613624A0A087WXU3
ENSG00000117868ENST00000652148A0FGR8

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
237911782013PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins.164
248478772014Structure of a lipid-bound extended synaptotagmin indicates a role in lipid transfer.95
259220752015Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.6

Citation

Dessen P

ESYT2 (extended synaptotagmin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62925/esyt2