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ECE2 (endothelin converting enzyme 2)

Identity

Alias_symbol (synonym)KIAA0604
MGC2408
Other aliasEEF1AKMT4
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  ECE2/HTR3C (3q27)
ECE2/PSMD2 (3q27)
PSMD2/ECE2 (3q27)
t(3;3)(q27;q29) PAK2/ECE2
t(3;4)(q27;q35) DCTD/ECE2


External links

Nomenclature
HGNC (Hugo)ECE2   13275
Cards
Entrez_Gene (NCBI)ECE2  9718  endothelin converting enzyme 2
AliasesEEF1AKMT4
GeneCards (Weizmann)ECE2
Ensembl hg19 (Hinxton)ENSG00000145194 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145194 [Gene_View]  ENSG00000145194 [Sequence]  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 AF428264 AF521189 AK293713
RefSeq transcript (Entrez)NM_001037324 NM_001100120 NM_001100121
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]
BioGPS (Tissue expression)9718
GTEX Portal (Tissue expression)ECE2
Human Protein AtlasENSG00000145194-ECE2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ECE2
DMDM Disease mutations9718
Blocks (Seattle)ECE2
Human Protein Atlas [tissue]ENSG00000145194-ECE2 [tissue]
HPRD09931
IPIIPI00218597   IPI00413953   IPI00396198   IPI00472106   IPI00219948   IPI00926862   IPI00908613   IPI00925371   
Protein Interaction databases
FunCoupENSG00000145194
BioGRIDECE2
STRING (EMBL)ECE2
ZODIACECE2
Ontologies - Pathways
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
PubMed32 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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indexed on : Tue Nov 6 11:03:47 CET 2018

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