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ECE2 (endothelin converting enzyme 2)

Identity

Alias_symbol (synonym)KIAA0604
MGC2408
Other alias-
HGNC (Hugo) ECE2
LocusID (NCBI) 9718
Atlas_Id 51625
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 184276011 and ends at 184293031 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DCTD (4q35.1) / ECE2 (3q27.1)ECE2 (3q27.1) / HOXB9 (17q21.32)ECE2 (3q27.1) / HTR3C (3q27.1)
PAK2 (3q29) / ECE2 (3q27.1)PSMD2 (3q27.1) / ECE2 (3q27.1)DCTD 4q35.1 / ECE2 3q27.1
ECE2 3q27.1 / HTR3C 3q27.1PAK2 3q29 / ECE2 3q27.1PSMD2 3q27.1 / ECE2 3q27.1

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)ECE2   13275
Cards
Entrez_Gene (NCBI)ECE2  9718  endothelin converting enzyme 2
Aliases
GeneCards (Weizmann)ECE2
Ensembl hg19 (Hinxton)ENSG00000145194 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145194 [Gene_View]  chr3:184276011-184293031 [Contig_View]  ECE2 [Vega]
ICGC DataPortalENSG00000145194
TCGA cBioPortalECE2
AceView (NCBI)ECE2
Genatlas (Paris)ECE2
WikiGenes9718
SOURCE (Princeton)ECE2
Genetics Home Reference (NIH)ECE2
Genomic and cartography
GoldenPath hg38 (UCSC)ECE2  -     chr3:184276011-184293031 +  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECE2  -     3q27.1   [Description]    (hg19-Feb_2009)
EnsemblECE2 - 3q27.1 [CytoView hg19]  ECE2 - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBIECE2 [Mapview hg19]  ECE2 [Mapview hg38]
OMIM610145   
Gene and transcription
Genbank (Entrez)AB011176 AF192531 AF428263 AF428264 AF521189
RefSeq transcript (Entrez)NM_001037324 NM_001100120 NM_001100121 NM_014693 NM_032331
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ECE2
Cluster EST : UnigeneHs.146161 [ NCBI ]
CGAP (NCI)Hs.146161
Alternative Splicing GalleryENSG00000145194
Gene ExpressionECE2 [ NCBI-GEO ]   ECE2 [ EBI - ARRAY_EXPRESS ]   ECE2 [ SEEK ]   ECE2 [ MEM ]
Gene Expression Viewer (FireBrowse)ECE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9718
GTEX Portal (Tissue expression)ECE2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60344   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60344  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60344
Splice isoforms : SwissVarO60344
Catalytic activity : Enzyme2.1.1.- [ Enzyme-Expasy ]   2.1.1.-2.1.1.- [ IntEnz-EBI ]   2.1.1.- [ BRENDA ]   2.1.1.- [ KEGG ]   
PhosPhoSitePlusO60344
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ECE2    MetalloPept_cat_dom    Peptidase_M13    Peptidase_M13_C    Peptidase_M13_N    SAM-dependent_MTases   
Domain families : Pfam (Sanger)Peptidase_M13 (PF01431)    Peptidase_M13_N (PF05649)   
Domain families : Pfam (NCBI)pfam01431    pfam05649   
Conserved Domain (NCBI)ECE2
DMDM Disease mutations9718
Blocks (Seattle)ECE2
PDB (SRS)2PXX   
PDB (PDBSum)2PXX   
PDB (IMB)2PXX   
PDB (RSDB)2PXX   
Structural Biology KnowledgeBase2PXX   
SCOP (Structural Classification of Proteins)2PXX   
CATH (Classification of proteins structures)2PXX   
SuperfamilyO60344
Human Protein AtlasENSG00000145194
Peptide AtlasO60344
HPRD09931
IPIIPI00218597   IPI00413953   IPI00396198   IPI00472106   IPI00219948   IPI00926862   IPI00908613   IPI00925371   
Protein Interaction databases
DIP (DOE-UCLA)O60344
IntAct (EBI)O60344
FunCoupENSG00000145194
BioGRIDECE2
STRING (EMBL)ECE2
ZODIACECE2
Ontologies - Pathways
QuickGOO60344
Ontology : AmiGOGolgi membrane  metalloendopeptidase activity  metalloendopeptidase activity  protein binding  cell-cell signaling  brain development  heart development  methyltransferase activity  cardioblast differentiation  integral component of membrane  peptide hormone processing  transport vesicle membrane  cytoplasmic vesicle membrane  methylation  metal ion binding  
Ontology : EGO-EBIGolgi membrane  metalloendopeptidase activity  metalloendopeptidase activity  protein binding  cell-cell signaling  brain development  heart development  methyltransferase activity  cardioblast differentiation  integral component of membrane  peptide hormone processing  transport vesicle membrane  cytoplasmic vesicle membrane  methylation  metal ion binding  
NDEx NetworkECE2
Atlas of Cancer Signalling NetworkECE2
Wikipedia pathwaysECE2
Orthology - Evolution
OrthoDB9718
GeneTree (enSembl)ENSG00000145194
Phylogenetic Trees/Animal Genes : TreeFamECE2
HOVERGENO60344
HOGENOMO60344
Homologs : HomoloGeneECE2
Homology/Alignments : Family Browser (UCSC)ECE2
Gene fusions - Rearrangements
Fusion : MitelmanDCTD/ECE2 [4q35.1/3q27.1]  [t(3;4)(q27;q35)]  
Fusion : MitelmanECE2/HTR3C [3q27.1/3q27.1]  [t(3;3)(q27;q27)]  
Fusion : MitelmanPAK2/ECE2 [3q29/3q27.1]  [t(3;3)(q27;q29)]  
Fusion : MitelmanPSMD2/ECE2 [3q27.1/3q27.1]  [t(3;3)(q27;q27)]  
Fusion: TCGADCTD 4q35.1 ECE2 3q27.1 GBM
Fusion: TCGAECE2 3q27.1 HTR3C 3q27.1 LUSC
Fusion: TCGAPAK2 3q29 ECE2 3q27.1 LUSC
Fusion: TCGAPSMD2 3q27.1 ECE2 3q27.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECE2
dbVarECE2
ClinVarECE2
1000_GenomesECE2 
Exome Variant ServerECE2
ExAC (Exome Aggregation Consortium)ECE2 (select the gene name)
Genetic variants : HAPMAP9718
Genomic Variants (DGV)ECE2 [DGVbeta]
DECIPHERECE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECE2 
Mutations
ICGC Data PortalECE2 
TCGA Data PortalECE2 
Broad Tumor PortalECE2
OASIS PortalECE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECE2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECE2
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 ECE2
DgiDB (Drug Gene Interaction Database)ECE2
DoCM (Curated mutations)ECE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECE2 (select a term)
intoGenECE2
Cancer3DECE2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610145   
Orphanet
MedgenECE2
Genetic Testing Registry ECE2
NextProtO60344 [Medical]
TSGene9718
GENETestsECE2
Target ValidationECE2
Huge Navigator ECE2 [HugePedia]
snp3D : Map Gene to Disease9718
BioCentury BCIQECE2
ClinGenECE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9718
Chemical/Pharm GKB GenePA134886910
Clinical trialECE2
Miscellaneous
canSAR (ICR)ECE2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECE2
EVEXECE2
GoPubMedECE2
iHOPECE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:32:03 CEST 2017

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