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ERC2 (ELKS/RAB6-interacting/CAST family member 2)

Identity

Alias_symbol (synonym)CAST
CAST1
KIAA0378
SPBC110
Spc110
ELKSL
Other alias
HGNC (Hugo) ERC2
LocusID (NCBI) 26059
Atlas_Id 928
Location 3p14.3  [Link to chromosome band 3p14]
Location_base_pair Starts at 55542339 and ends at 56502391 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DUOX2 (15q21.1) / ERC2 (3p14.3)ERC2 (3p14.3) / ARHGEF3 (3p14.3)RAD54L2 (3p21.2) / ERC2 (3p14.3)
SH3PXD2A (10q24.33) / ERC2 (3p14.3)ERC2 3p14.3 / ARHGEF3 3p14.3RAD54L2 3p21.2 / ERC2 3p14.3

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) [ 1 ]
  t(5;12)(q33;p13) ERC1/PDGFRB


External links

Nomenclature
HGNC (Hugo)ERC2   31922
Cards
Entrez_Gene (NCBI)ERC2  26059  ELKS/RAB6-interacting/CAST family member 2
AliasesCAST; CAST1; ELKSL; SPBC110; 
Spc110
GeneCards (Weizmann)ERC2
Ensembl hg19 (Hinxton)ENSG00000187672 [Gene_View]  chr3:55542339-56502391 [Contig_View]  ERC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000187672 [Gene_View]  chr3:55542339-56502391 [Contig_View]  ERC2 [Vega]
ICGC DataPortalENSG00000187672
TCGA cBioPortalERC2
AceView (NCBI)ERC2
Genatlas (Paris)ERC2
WikiGenes26059
SOURCE (Princeton)ERC2
Genetics Home Reference (NIH)ERC2
Genomic and cartography
GoldenPath hg19 (UCSC)ERC2  -     chr3:55542339-56502391 -  3p14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ERC2  -     3p14.3   [Description]    (hg38-Dec_2013)
EnsemblERC2 - 3p14.3 [CytoView hg19]  ERC2 - 3p14.3 [CytoView hg38]
Mapping of homologs : NCBIERC2 [Mapview hg19]  ERC2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA826430 AB002376 BC060881 BC068563 BC094783
RefSeq transcript (Entrez)NM_015576
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)ERC2
Cluster EST : UnigeneHs.476389 [ NCBI ]
CGAP (NCI)Hs.476389
Alternative Splicing GalleryENSG00000187672
Gene ExpressionERC2 [ NCBI-GEO ]   ERC2 [ EBI - ARRAY_EXPRESS ]   ERC2 [ SEEK ]   ERC2 [ MEM ]
Gene Expression Viewer (FireBrowse)ERC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26059
GTEX Portal (Tissue expression)ERC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15083   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15083  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15083
Splice isoforms : SwissVarO15083
PhosPhoSitePlusO15083
Domains : Interpro (EBI)ELKS/CAST   
Domain families : Pfam (Sanger)Cast (PF10174)   
Domain families : Pfam (NCBI)pfam10174   
Conserved Domain (NCBI)ERC2
DMDM Disease mutations26059
Blocks (Seattle)ERC2
SuperfamilyO15083
Human Protein AtlasENSG00000187672
Peptide AtlasO15083
HPRD10810
IPIIPI00472614   IPI00946991   
Protein Interaction databases
DIP (DOE-UCLA)O15083
IntAct (EBI)O15083
FunCoupENSG00000187672
BioGRIDERC2
STRING (EMBL)ERC2
ZODIACERC2
Ontologies - Pathways
QuickGOO15083
Ontology : AmiGOprotein binding  cytoplasm  cytoskeleton  cell junction  growth cone  presynaptic membrane  presynaptic active zone  
Ontology : EGO-EBIprotein binding  cytoplasm  cytoskeleton  cell junction  growth cone  presynaptic membrane  presynaptic active zone  
NDEx NetworkERC2
Atlas of Cancer Signalling NetworkERC2
Wikipedia pathwaysERC2
Orthology - Evolution
OrthoDB26059
GeneTree (enSembl)ENSG00000187672
Phylogenetic Trees/Animal Genes : TreeFamERC2
HOVERGENO15083
HOGENOMO15083
Homologs : HomoloGeneERC2
Homology/Alignments : Family Browser (UCSC)ERC2
Gene fusions - Rearrangements
Fusion : MitelmanERC2/ARHGEF3 [3p14.3/3p14.3]  
Fusion : MitelmanRAD54L2/ERC2 [3p21.2/3p14.3]  [t(3;3)(p14;p21)]  
Fusion: TCGAERC2 3p14.3 ARHGEF3 3p14.3 BRCA
Fusion: TCGARAD54L2 3p21.2 ERC2 3p14.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERC2
dbVarERC2
ClinVarERC2
1000_GenomesERC2 
Exome Variant ServerERC2
ExAC (Exome Aggregation Consortium)ERC2 (select the gene name)
Genetic variants : HAPMAP26059
Genomic Variants (DGV)ERC2 [DGVbeta]
DECIPHER (Syndromes)3:55542339-56502391  ENSG00000187672
CONAN: Copy Number AnalysisERC2 
Mutations
ICGC Data PortalERC2 
TCGA Data PortalERC2 
Broad Tumor PortalERC2
OASIS PortalERC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERC2
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 ERC2
DgiDB (Drug Gene Interaction Database)ERC2
DoCM (Curated mutations)ERC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERC2 (select a term)
intoGenERC2
Cancer3DERC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenERC2
Genetic Testing Registry ERC2
NextProtO15083 [Medical]
TSGene26059
GENETestsERC2
Huge Navigator ERC2 [HugePedia]
snp3D : Map Gene to Disease26059
BioCentury BCIQERC2
ClinGenERC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26059
Chemical/Pharm GKB GenePA162385249
Clinical trialERC2
Miscellaneous
canSAR (ICR)ERC2 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERC2
EVEXERC2
GoPubMedERC2
iHOPERC2
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 13:04:54 CET 2017

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