Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ERGIC2 (ERGIC and golgi 2)

Identity

Alias_symbol (synonym)PTX1
Erv41
Other aliasCDA14
cd002
HGNC (Hugo) ERGIC2
LocusID (NCBI) 51290
Atlas_Id 46544
Location 12p11.22  [Link to chromosome band 12p11]
Location_base_pair Starts at 29340646 and ends at 29381210 bp from pter ( according to hg38-Dec_2013)

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)ERGIC2   30208
Cards
Entrez_Gene (NCBI)ERGIC2  51290  ERGIC and golgi 2
AliasesCDA14; Erv41; PTX1; cd002
GeneCards (Weizmann)ERGIC2
Ensembl hg19 (Hinxton)ENSG00000087502 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087502 [Gene_View]  chr12:29340646-29381210 [Contig_View]  ERGIC2 [Vega]
ICGC DataPortalENSG00000087502
TCGA cBioPortalERGIC2
AceView (NCBI)ERGIC2
Genatlas (Paris)ERGIC2
WikiGenes51290
SOURCE (Princeton)ERGIC2
Genetics Home Reference (NIH)ERGIC2
Genomic and cartography
GoldenPath hg38 (UCSC)ERGIC2  -     chr12:29340646-29381210 -  12p11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERGIC2  -     12p11.22   [Description]    (hg19-Feb_2009)
EnsemblERGIC2 - 12p11.22 [CytoView hg19]  ERGIC2 - 12p11.22 [CytoView hg38]
Mapping of homologs : NCBIERGIC2 [Mapview hg19]  ERGIC2 [Mapview hg38]
OMIM612236   
Gene and transcription
Genbank (Entrez)AF183410 AF216751 AF302767 AK074520 AK097112
RefSeq transcript (Entrez)NM_016570
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERGIC2
Cluster EST : UnigeneHs.339453 [ NCBI ]
CGAP (NCI)Hs.339453
Alternative Splicing GalleryENSG00000087502
Gene ExpressionERGIC2 [ NCBI-GEO ]   ERGIC2 [ EBI - ARRAY_EXPRESS ]   ERGIC2 [ SEEK ]   ERGIC2 [ MEM ]
Gene Expression Viewer (FireBrowse)ERGIC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51290
GTEX Portal (Tissue expression)ERGIC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RQ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96RQ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96RQ1
Splice isoforms : SwissVarQ96RQ1
PhosPhoSitePlusQ96RQ1
Domains : Interpro (EBI)Erv_C   
Domain families : Pfam (Sanger)COPIIcoated_ERV (PF07970)   
Domain families : Pfam (NCBI)pfam07970   
Conserved Domain (NCBI)ERGIC2
DMDM Disease mutations51290
Blocks (Seattle)ERGIC2
SuperfamilyQ96RQ1
Human Protein AtlasENSG00000087502
Peptide AtlasQ96RQ1
HPRD17932
IPIIPI00981286   IPI00165651   IPI01022548   IPI01022669   IPI01021014   IPI01022098   IPI01022879   IPI01022565   IPI01021525   IPI01022296   IPI01021557   
Protein Interaction databases
DIP (DOE-UCLA)Q96RQ1
IntAct (EBI)Q96RQ1
FunCoupENSG00000087502
BioGRIDERGIC2
STRING (EMBL)ERGIC2
ZODIACERGIC2
Ontologies - Pathways
QuickGOQ96RQ1
Ontology : AmiGOprotein binding  nucleus  nucleolus  cytoplasm  endoplasmic reticulum membrane  Golgi apparatus  retrograde vesicle-mediated transport, Golgi to ER  membrane  integral component of membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  intracellular membrane-bounded organelle  
Ontology : EGO-EBIprotein binding  nucleus  nucleolus  cytoplasm  endoplasmic reticulum membrane  Golgi apparatus  retrograde vesicle-mediated transport, Golgi to ER  membrane  integral component of membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  intracellular membrane-bounded organelle  
NDEx NetworkERGIC2
Atlas of Cancer Signalling NetworkERGIC2
Wikipedia pathwaysERGIC2
Orthology - Evolution
OrthoDB51290
GeneTree (enSembl)ENSG00000087502
Phylogenetic Trees/Animal Genes : TreeFamERGIC2
HOVERGENQ96RQ1
HOGENOMQ96RQ1
Homologs : HomoloGeneERGIC2
Homology/Alignments : Family Browser (UCSC)ERGIC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERGIC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERGIC2
dbVarERGIC2
ClinVarERGIC2
1000_GenomesERGIC2 
Exome Variant ServerERGIC2
ExAC (Exome Aggregation Consortium)ERGIC2 (select the gene name)
Genetic variants : HAPMAP51290
Genomic Variants (DGV)ERGIC2 [DGVbeta]
DECIPHERERGIC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERGIC2 
Mutations
ICGC Data PortalERGIC2 
TCGA Data PortalERGIC2 
Broad Tumor PortalERGIC2
OASIS PortalERGIC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERGIC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERGIC2
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 ERGIC2
DgiDB (Drug Gene Interaction Database)ERGIC2
DoCM (Curated mutations)ERGIC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERGIC2 (select a term)
intoGenERGIC2
Cancer3DERGIC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612236   
Orphanet
MedgenERGIC2
Genetic Testing Registry ERGIC2
NextProtQ96RQ1 [Medical]
TSGene51290
GENETestsERGIC2
Huge Navigator ERGIC2 [HugePedia]
snp3D : Map Gene to Disease51290
BioCentury BCIQERGIC2
ClinGenERGIC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51290
Chemical/Pharm GKB GenePA143485457
Clinical trialERGIC2
Miscellaneous
canSAR (ICR)ERGIC2 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERGIC2
EVEXERGIC2
GoPubMedERGIC2
iHOPERGIC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:14:55 CEST 2017

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