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ECHDC2 (enoyl-CoA hydratase domain containing 2)

Identity

Alias_namesenoyl Coenzyme A hydratase domain containing 2
Alias_symbol (synonym)FLJ10948
Other alias-
HGNC (Hugo) ECHDC2
LocusID (NCBI) 55268
Atlas_Id 62714
Location 1p32.3  [Link to chromosome band 1p32]
Location_base_pair Starts at 52895910 and ends at 52921774 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ECHDC2 (1p32.3) / FMR1-AS1 (Xq27.3)SCP2 (1p32.3) / ECHDC2 (1p32.3)TPM2 (9p13.3) / ECHDC2 (1p32.3)

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

 


External links

Nomenclature
HGNC (Hugo)ECHDC2   23408
Cards
Entrez_Gene (NCBI)ECHDC2  55268  enoyl-CoA hydratase domain containing 2
Aliases
GeneCards (Weizmann)ECHDC2
Ensembl hg19 (Hinxton)ENSG00000121310 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121310 [Gene_View]  chr1:52895910-52921774 [Contig_View]  ECHDC2 [Vega]
ICGC DataPortalENSG00000121310
TCGA cBioPortalECHDC2
AceView (NCBI)ECHDC2
Genatlas (Paris)ECHDC2
WikiGenes55268
SOURCE (Princeton)ECHDC2
Genetics Home Reference (NIH)ECHDC2
Genomic and cartography
GoldenPath hg38 (UCSC)ECHDC2  -     chr1:52895910-52921774 -  1p32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECHDC2  -     1p32.3   [Description]    (hg19-Feb_2009)
EnsemblECHDC2 - 1p32.3 [CytoView hg19]  ECHDC2 - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBIECHDC2 [Mapview hg19]  ECHDC2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA946561 AF258590 AI298655 AK001810 AK299834
RefSeq transcript (Entrez)NM_001198961 NM_001198962 NM_001319958 NM_018281
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ECHDC2
Cluster EST : UnigeneHs.476319 [ NCBI ]
CGAP (NCI)Hs.476319
Alternative Splicing GalleryENSG00000121310
Gene ExpressionECHDC2 [ NCBI-GEO ]   ECHDC2 [ EBI - ARRAY_EXPRESS ]   ECHDC2 [ SEEK ]   ECHDC2 [ MEM ]
Gene Expression Viewer (FireBrowse)ECHDC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55268
GTEX Portal (Tissue expression)ECHDC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86YB7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86YB7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86YB7
Splice isoforms : SwissVarQ86YB7
PhosPhoSitePlusQ86YB7
Domaine pattern : Prosite (Expaxy)ENOYL_COA_HYDRATASE (PS00166)   
Domains : Interpro (EBI)ClpP/crotonase-like_dom    Crontonase_C    Crotonase_core_superfam    Enoyl-CoA_hyd/isom_CS   
Domain families : Pfam (Sanger)ECH_1 (PF00378)   
Domain families : Pfam (NCBI)pfam00378   
Conserved Domain (NCBI)ECHDC2
DMDM Disease mutations55268
Blocks (Seattle)ECHDC2
SuperfamilyQ86YB7
Human Protein AtlasENSG00000121310
Peptide AtlasQ86YB7
HPRD07718
IPIIPI00384676   IPI00019485   IPI00384237   IPI01009654   IPI00977030   IPI00640158   IPI01015262   IPI00976889   IPI01015987   
Protein Interaction databases
DIP (DOE-UCLA)Q86YB7
IntAct (EBI)Q86YB7
FunCoupENSG00000121310
BioGRIDECHDC2
STRING (EMBL)ECHDC2
ZODIACECHDC2
Ontologies - Pathways
QuickGOQ86YB7
Ontology : AmiGOenoyl-CoA hydratase activity  mitochondrion  fatty acid beta-oxidation  
Ontology : EGO-EBIenoyl-CoA hydratase activity  mitochondrion  fatty acid beta-oxidation  
NDEx NetworkECHDC2
Atlas of Cancer Signalling NetworkECHDC2
Wikipedia pathwaysECHDC2
Orthology - Evolution
OrthoDB55268
GeneTree (enSembl)ENSG00000121310
Phylogenetic Trees/Animal Genes : TreeFamECHDC2
HOVERGENQ86YB7
HOGENOMQ86YB7
Homologs : HomoloGeneECHDC2
Homology/Alignments : Family Browser (UCSC)ECHDC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECHDC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECHDC2
dbVarECHDC2
ClinVarECHDC2
1000_GenomesECHDC2 
Exome Variant ServerECHDC2
ExAC (Exome Aggregation Consortium)ECHDC2 (select the gene name)
Genetic variants : HAPMAP55268
Genomic Variants (DGV)ECHDC2 [DGVbeta]
DECIPHERECHDC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECHDC2 
Mutations
ICGC Data PortalECHDC2 
TCGA Data PortalECHDC2 
Broad Tumor PortalECHDC2
OASIS PortalECHDC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECHDC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECHDC2
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 ECHDC2
DgiDB (Drug Gene Interaction Database)ECHDC2
DoCM (Curated mutations)ECHDC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECHDC2 (select a term)
intoGenECHDC2
Cancer3DECHDC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenECHDC2
Genetic Testing Registry ECHDC2
NextProtQ86YB7 [Medical]
TSGene55268
GENETestsECHDC2
Target ValidationECHDC2
Huge Navigator ECHDC2 [HugePedia]
snp3D : Map Gene to Disease55268
BioCentury BCIQECHDC2
ClinGenECHDC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55268
Chemical/Pharm GKB GenePA134913726
Clinical trialECHDC2
Miscellaneous
canSAR (ICR)ECHDC2 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECHDC2
EVEXECHDC2
GoPubMedECHDC2
iHOPECHDC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:46:43 CEST 2017

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