Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EVC2 (Ellis van Creveld syndrome 2)

Identity

Alias_namesEllis van Creveld syndrome 2
Alias_symbol (synonym)LBN
Other aliasWAD
HGNC (Hugo) EVC2
LocusID (NCBI) 132884
Atlas_Id 62935
Location 4p16.2  [Link to chromosome band 4p16]
Location_base_pair Starts at 5564146 and ends at 5711275 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EVC2 (4p16.2) / HDAC7 (12q13.11)GSTM2 (1p13.3) / EVC2 (4p16.2)

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)EVC2   19747
Cards
Entrez_Gene (NCBI)EVC2  132884  Ellis van Creveld syndrome 2
AliasesLBN; WAD
GeneCards (Weizmann)EVC2
Ensembl hg19 (Hinxton)ENSG00000173040 [Gene_View]  chr4:5564146-5711275 [Contig_View]  EVC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000173040 [Gene_View]  chr4:5564146-5711275 [Contig_View]  EVC2 [Vega]
ICGC DataPortalENSG00000173040
TCGA cBioPortalEVC2
AceView (NCBI)EVC2
Genatlas (Paris)EVC2
WikiGenes132884
SOURCE (Princeton)EVC2
Genetics Home Reference (NIH)EVC2
Genomic and cartography
GoldenPath hg19 (UCSC)EVC2  -     chr4:5564146-5711275 -  4p16.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EVC2  -     4p16.2   [Description]    (hg38-Dec_2013)
EnsemblEVC2 - 4p16.2 [CytoView hg19]  EVC2 - 4p16.2 [CytoView hg38]
Mapping of homologs : NCBIEVC2 [Mapview hg19]  EVC2 [Mapview hg38]
OMIM193530   225500   607261   
Gene and transcription
Genbank (Entrez)AB083067 AW137166 AY152402 AY152403 AY185210
RefSeq transcript (Entrez)NM_001166136 NM_147127
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_015821 NT_006051 NW_004929314
Consensus coding sequences : CCDS (NCBI)EVC2
Cluster EST : UnigeneHs.87306 [ NCBI ]
CGAP (NCI)Hs.87306
Alternative Splicing GalleryENSG00000173040
Gene ExpressionEVC2 [ NCBI-GEO ]   EVC2 [ EBI - ARRAY_EXPRESS ]   EVC2 [ SEEK ]   EVC2 [ MEM ]
Gene Expression Viewer (FireBrowse)EVC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)132884
GTEX Portal (Tissue expression)EVC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86UK5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86UK5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86UK5
Splice isoforms : SwissVarQ86UK5
PhosPhoSitePlusQ86UK5
Domains : Interpro (EBI)Limbin    Limbin/Ellis-van_Creveld   
Domain families : Pfam (Sanger)EVC2_like (PF12297)   
Domain families : Pfam (NCBI)pfam12297   
Conserved Domain (NCBI)EVC2
DMDM Disease mutations132884
Blocks (Seattle)EVC2
SuperfamilyQ86UK5
Human Protein AtlasENSG00000173040
Peptide AtlasQ86UK5
HPRD06269
IPIIPI00382523   IPI00168913   IPI00382525   IPI00964147   
Protein Interaction databases
DIP (DOE-UCLA)Q86UK5
IntAct (EBI)Q86UK5
FunCoupENSG00000173040
BioGRIDEVC2
STRING (EMBL)EVC2
ZODIACEVC2
Ontologies - Pathways
QuickGOQ86UK5
Ontology : AmiGOnucleus  nucleus  cytoplasm  cytoskeleton  cilium  smoothened signaling pathway  integral component of membrane  ciliary membrane  
Ontology : EGO-EBInucleus  nucleus  cytoplasm  cytoskeleton  cilium  smoothened signaling pathway  integral component of membrane  ciliary membrane  
NDEx NetworkEVC2
Atlas of Cancer Signalling NetworkEVC2
Wikipedia pathwaysEVC2
Orthology - Evolution
OrthoDB132884
GeneTree (enSembl)ENSG00000173040
Phylogenetic Trees/Animal Genes : TreeFamEVC2
HOVERGENQ86UK5
HOGENOMQ86UK5
Homologs : HomoloGeneEVC2
Homology/Alignments : Family Browser (UCSC)EVC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEVC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EVC2
dbVarEVC2
ClinVarEVC2
1000_GenomesEVC2 
Exome Variant ServerEVC2
ExAC (Exome Aggregation Consortium)EVC2 (select the gene name)
Genetic variants : HAPMAP132884
Genomic Variants (DGV)EVC2 [DGVbeta]
DECIPHER (Syndromes)4:5564146-5711275  ENSG00000173040
CONAN: Copy Number AnalysisEVC2 
Mutations
ICGC Data PortalEVC2 
TCGA Data PortalEVC2 
Broad Tumor PortalEVC2
OASIS PortalEVC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEVC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEVC2
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 EVC2
DgiDB (Drug Gene Interaction Database)EVC2
DoCM (Curated mutations)EVC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EVC2 (select a term)
intoGenEVC2
Cancer3DEVC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM193530    225500    607261   
Orphanet287    1272   
MedgenEVC2
Genetic Testing Registry EVC2
NextProtQ86UK5 [Medical]
TSGene132884
GENETestsEVC2
Huge Navigator EVC2 [HugePedia]
snp3D : Map Gene to Disease132884
BioCentury BCIQEVC2
ClinGenEVC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD132884
Chemical/Pharm GKB GenePA134989044
Clinical trialEVC2
Miscellaneous
canSAR (ICR)EVC2 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEVC2
EVEXEVC2
GoPubMedEVC2
iHOPEVC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:03:14 CET 2017

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