Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ESYT2 (extended synaptotagmin 2)

Identity

Alias (NCBI)CHR2SYT
E-Syt2
FAM62B
HGNC (Hugo) ESYT2
HGNC Alias symbKIAA1228
CHR2SYT
HGNC Previous nameFAM62B
HGNC Previous namefamily with sequence similarity 62 (C2 domain containing), member B
 extended synaptotagmin-like protein 2
LocusID (NCBI) 57488
Atlas_Id 62925
Location 7q36.3  [Link to chromosome band 7q36]
Location_base_pair Starts at 158730997 and ends at 158829509 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)
ESYT2 (7q36.3) / ATRN (20p13)ESYT2 (7q36.3) / CPED1 (7q31.31)ESYT2 (7q36.3) / EIF3CL (16p11.2)
ESYT2 (7q36.3) / ENO1 (1p36.23)ESYT2 (7q36.3) / ESYT2 (7q36.3)ESYT2 (7q36.3) / PPIA (7p13)
ESYT2 (7q36.3) / PTPRN2 (7q36.3)GORASP2 (2q31.1) / ESYT2 (7q36.3)HTT (4p16.3) / ESYT2 (7q36.3)
NCAPG2 (7q36.3) / ESYT2 (7q36.3)OLFML2A (9q33.3) / ESYT2 (7q36.3)RPH3AL (17p13.3) / ESYT2 (7q36.3)
TERF1 (8q21.11) / ESYT2 (7q36.3)

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(7;20)(q36;p13) ESYT2/ATRN
t(7;20)(q36;p13) ESYT2/ATRN


External links

 

Nomenclature
HGNC (Hugo)ESYT2   22211
Cards
Entrez_Gene (NCBI)ESYT2    extended synaptotagmin 2
AliasesCHR2SYT; E-Syt2; FAM62B
GeneCards (Weizmann)ESYT2
Ensembl hg19 (Hinxton)ENSG00000117868 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117868 [Gene_View]  ENSG00000117868 [Sequence]  chr7:158730997-158829509 [Contig_View]  ESYT2 [Vega]
ICGC DataPortalENSG00000117868
TCGA cBioPortalESYT2
AceView (NCBI)ESYT2
Genatlas (Paris)ESYT2
SOURCE (Princeton)ESYT2
Genetics Home Reference (NIH)ESYT2
Genomic and cartography
GoldenPath hg38 (UCSC)ESYT2  -     chr7:158730997-158829509 -  7q36.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESYT2  -     7q36.3   [Description]    (hg19-Feb_2009)
GoldenPathESYT2 - 7q36.3 [CytoView hg19]  ESYT2 - 7q36.3 [CytoView hg38]
ImmunoBaseENSG00000117868
Genome Data Viewer NCBIESYT2 [Mapview hg19]  
OMIM616691   
Gene and transcription
Genbank (Entrez)AB033054 AJ303365 AK001181 AK026710 AK056953
RefSeq transcript (Entrez)NM_001367773 NM_020728
Consensus coding sequences : CCDS (NCBI)ESYT2
Gene ExpressionESYT2 [ NCBI-GEO ]   ESYT2 [ EBI - ARRAY_EXPRESS ]   ESYT2 [ SEEK ]   ESYT2 [ MEM ]
Gene Expression Viewer (FireBrowse)ESYT2 [ Firebrowse - Broad ]
GenevisibleExpression of ESYT2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57488
GTEX Portal (Tissue expression)ESYT2
Human Protein AtlasENSG00000117868-ESYT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA0FGR8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA0FGR8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA0FGR8
PhosPhoSitePlusA0FGR8
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    Synaptotagmin_SMP   
Domain families : Pfam (Sanger)C2 (PF00168)    SMP_LBD (PF17047)   
Domain families : Pfam (NCBI)pfam00168    pfam17047   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)ESYT2
PDB (RSDB)2DMG    4NPJ    4NPK    4P42   
PDB Europe2DMG    4NPJ    4NPK    4P42   
PDB (PDBSum)2DMG    4NPJ    4NPK    4P42   
PDB (IMB)2DMG    4NPJ    4NPK    4P42   
Structural Biology KnowledgeBase2DMG    4NPJ    4NPK    4P42   
SCOP (Structural Classification of Proteins)2DMG    4NPJ    4NPK    4P42   
CATH (Classification of proteins structures)2DMG    4NPJ    4NPK    4P42   
SuperfamilyA0FGR8
AlphaFold pdb e-kbA0FGR8   
Human Protein Atlas [tissue]ENSG00000117868-ESYT2 [tissue]
HPRD13053
Protein Interaction databases
DIP (DOE-UCLA)A0FGR8
IntAct (EBI)A0FGR8
BioGRIDESYT2
STRING (EMBL)ESYT2
ZODIACESYT2
Ontologies - Pathways
QuickGOA0FGR8
Ontology : AmiGOcalcium ion binding  calcium ion binding  protein binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  endoplasmic reticulum membrane  integral component of plasma membrane  glycosphingolipid metabolic process  lipid transport  endocytosis  phosphatidylethanolamine binding  phosphatidylethanolamine binding  membrane  phosphatidylcholine 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  phosphatidylinositol binding  identical protein binding  organelle membrane contact site  cadherin binding  endoplasmic reticulum-plasma membrane tethering  endoplasmic reticulum-plasma membrane contact site  
Ontology : EGO-EBIcalcium ion binding  calcium ion binding  protein binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  endoplasmic reticulum membrane  integral component of plasma membrane  glycosphingolipid metabolic process  lipid transport  endocytosis  phosphatidylethanolamine binding  phosphatidylethanolamine binding  membrane  phosphatidylcholine 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  phosphatidylinositol binding  identical protein binding  organelle membrane contact site  cadherin binding  endoplasmic reticulum-plasma membrane tethering  endoplasmic reticulum-plasma membrane contact site  
NDEx NetworkESYT2
Atlas of Cancer Signalling NetworkESYT2
Wikipedia pathwaysESYT2
Orthology - Evolution
OrthoDB57488
GeneTree (enSembl)ENSG00000117868
Phylogenetic Trees/Animal Genes : TreeFamESYT2
Homologs : HomoloGeneESYT2
Homology/Alignments : Family Browser (UCSC)ESYT2
Gene fusions - Rearrangements
Fusion : QuiverESYT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESYT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESYT2
dbVarESYT2
ClinVarESYT2
MonarchESYT2
1000_GenomesESYT2 
Exome Variant ServerESYT2
GNOMAD BrowserENSG00000117868
Varsome BrowserESYT2
ACMGESYT2 variants
VarityA0FGR8
Genomic Variants (DGV)ESYT2 [DGVbeta]
DECIPHERESYT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESYT2 
Mutations
ICGC Data PortalESYT2 
TCGA Data PortalESYT2 
Broad Tumor PortalESYT2
OASIS PortalESYT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESYT2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DESYT2
Mutations and Diseases : HGMDESYT2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaESYT2
DgiDB (Drug Gene Interaction Database)ESYT2
DoCM (Curated mutations)ESYT2
CIViC (Clinical Interpretations of Variants in Cancer)ESYT2
Cancer3DESYT2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616691   
Orphanet
DisGeNETESYT2
MedgenESYT2
Genetic Testing Registry ESYT2
NextProtA0FGR8 [Medical]
GENETestsESYT2
Target ValidationESYT2
Huge Navigator ESYT2 [HugePedia]
ClinGenESYT2
Clinical trials, drugs, therapy
MyCancerGenomeESYT2
Protein Interactions : CTDESYT2
Pharm GKB GenePA165617947
PharosA0FGR8
Clinical trialESYT2
Miscellaneous
canSAR (ICR)ESYT2
HarmonizomeESYT2
DataMed IndexESYT2
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXESYT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:49:15 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.