Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ESYT3 (extended synaptotagmin 3)

Identity

Alias_namesFAM62C
family with sequence similarity 62 (C2 domain containing), member C
extended synaptotagmin-like protein 3
Alias_symbol (synonym)CHR3SYT
Other aliasE-Syt3
HGNC (Hugo) ESYT3
LocusID (NCBI) 83850
Atlas_Id 62926
Location 3q22.3  [Link to chromosome band 3q22]
Location_base_pair Starts at 138434573 and ends at 138479942 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ESYT3   24295
Cards
Entrez_Gene (NCBI)ESYT3  83850  extended synaptotagmin 3
AliasesCHR3SYT; E-Syt3; FAM62C
GeneCards (Weizmann)ESYT3
Ensembl hg19 (Hinxton)ENSG00000158220 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158220 [Gene_View]  ENSG00000158220 [Sequence]  chr3:138434573-138479942 [Contig_View]  ESYT3 [Vega]
ICGC DataPortalENSG00000158220
TCGA cBioPortalESYT3
AceView (NCBI)ESYT3
Genatlas (Paris)ESYT3
WikiGenes83850
SOURCE (Princeton)ESYT3
Genetics Home Reference (NIH)ESYT3
Genomic and cartography
GoldenPath hg38 (UCSC)ESYT3  -     chr3:138434573-138479942 +  3q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESYT3  -     3q22.3   [Description]    (hg19-Feb_2009)
GoldenPathESYT3 - 3q22.3 [CytoView hg19]  ESYT3 - 3q22.3 [CytoView hg38]
ImmunoBaseENSG00000158220
Mapping of homologs : NCBIESYT3 [Mapview hg19]  ESYT3 [Mapview hg38]
OMIM616692   
Gene and transcription
Genbank (Entrez)AJ303366 AJ697972 AK125080 AK289530 AW513592
RefSeq transcript (Entrez)NM_001322831 NM_001322834 NM_031913
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ESYT3
Cluster EST : UnigeneHs.477711 [ NCBI ]
CGAP (NCI)Hs.477711
Alternative Splicing GalleryENSG00000158220
Gene ExpressionESYT3 [ NCBI-GEO ]   ESYT3 [ EBI - ARRAY_EXPRESS ]   ESYT3 [ SEEK ]   ESYT3 [ MEM ]
Gene Expression Viewer (FireBrowse)ESYT3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83850
GTEX Portal (Tissue expression)ESYT3
Human Protein AtlasENSG00000158220-ESYT3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA0FGR9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA0FGR9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA0FGR9
Splice isoforms : SwissVarA0FGR9
PhosPhoSitePlusA0FGR9
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    SMP (PS51847)   
Domains : Interpro (EBI)C2_dom    C2_domain_sf    C2C_KIAA1228    Ext_Synaptotagmin_C2A    Ext_Synaptotagmin_C2B    SMP_LBD   
Domain families : Pfam (Sanger)C2 (PF00168)    SMP_LBD (PF17047)   
Domain families : Pfam (NCBI)pfam00168    pfam17047   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)ESYT3
DMDM Disease mutations83850
Blocks (Seattle)ESYT3
SuperfamilyA0FGR9
Human Protein Atlas [tissue]ENSG00000158220-ESYT3 [tissue]
Peptide AtlasA0FGR9
HPRD13054
IPIIPI00646453   IPI00784300   IPI01011105   
Protein Interaction databases
DIP (DOE-UCLA)A0FGR9
IntAct (EBI)A0FGR9
FunCoupENSG00000158220
BioGRIDESYT3
STRING (EMBL)ESYT3
ZODIACESYT3
Ontologies - Pathways
QuickGOA0FGR9
Ontology : AmiGOcalcium ion binding  protein binding  calcium-dependent phospholipid binding  endoplasmic reticulum membrane  integral component of plasma membrane  glycosphingolipid metabolic process  lipid transport  phosphatidylethanolamine binding  phosphatidylcholine binding  intrinsic component of endoplasmic reticulum membrane  intrinsic component of endoplasmic reticulum membrane  extrinsic component of cytoplasmic side of plasma membrane  extrinsic component of cytoplasmic side of plasma membrane  phosphatidylinositol binding  organelle membrane contact site  endoplasmic reticulum-plasma membrane tethering  
Ontology : EGO-EBIcalcium ion binding  protein binding  calcium-dependent phospholipid binding  endoplasmic reticulum membrane  integral component of plasma membrane  glycosphingolipid metabolic process  lipid transport  phosphatidylethanolamine binding  phosphatidylcholine binding  intrinsic component of endoplasmic reticulum membrane  intrinsic component of endoplasmic reticulum membrane  extrinsic component of cytoplasmic side of plasma membrane  extrinsic component of cytoplasmic side of plasma membrane  phosphatidylinositol binding  organelle membrane contact site  endoplasmic reticulum-plasma membrane tethering  
NDEx NetworkESYT3
Atlas of Cancer Signalling NetworkESYT3
Wikipedia pathwaysESYT3
Orthology - Evolution
OrthoDB83850
GeneTree (enSembl)ENSG00000158220
Phylogenetic Trees/Animal Genes : TreeFamESYT3
HOGENOMA0FGR9
Homologs : HomoloGeneESYT3
Homology/Alignments : Family Browser (UCSC)ESYT3
Gene fusions - Rearrangements
Fusion : QuiverESYT3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESYT3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESYT3
dbVarESYT3
ClinVarESYT3
1000_GenomesESYT3 
Exome Variant ServerESYT3
ExAC (Exome Aggregation Consortium)ENSG00000158220
GNOMAD BrowserENSG00000158220
Varsome BrowserESYT3
Genetic variants : HAPMAP83850
Genomic Variants (DGV)ESYT3 [DGVbeta]
DECIPHERESYT3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESYT3 
Mutations
ICGC Data PortalESYT3 
TCGA Data PortalESYT3 
Broad Tumor PortalESYT3
OASIS PortalESYT3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESYT3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DESYT3
Mutations and Diseases : HGMDESYT3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ESYT3
DgiDB (Drug Gene Interaction Database)ESYT3
DoCM (Curated mutations)ESYT3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESYT3 (select a term)
intoGenESYT3
Cancer3DESYT3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616692   
Orphanet
DisGeNETESYT3
MedgenESYT3
Genetic Testing Registry ESYT3
NextProtA0FGR9 [Medical]
TSGene83850
GENETestsESYT3
Target ValidationESYT3
Huge Navigator ESYT3 [HugePedia]
snp3D : Map Gene to Disease83850
BioCentury BCIQESYT3
ClinGenESYT3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83850
Chemical/Pharm GKB GenePA165697118
Clinical trialESYT3
Miscellaneous
canSAR (ICR)ESYT3 (select the gene name)
DataMed IndexESYT3
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESYT3
EVEXESYT3
GoPubMedESYT3
iHOPESYT3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:27:07 CEST 2019
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