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EMC2 (ER membrane protein complex subunit 2)

Identity

Alias_namesKIAA0103
TTC35
tetratricopeptide repeat domain 35
Other alias
HGNC (Hugo) EMC2
LocusID (NCBI) 9694
Atlas_Id 62810
Location 8q23.1  [Link to chromosome band 8q23]
Location_base_pair Starts at 108443583 and ends at 108489188 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)
EMC2 (8q23.1) / PAPSS2 (10q23.2)

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)EMC2   28963
Cards
Entrez_Gene (NCBI)EMC2  9694  ER membrane protein complex subunit 2
AliasesKIAA0103; TTC35
GeneCards (Weizmann)EMC2
Ensembl hg19 (Hinxton)ENSG00000104412 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104412 [Gene_View]  chr8:108443583-108489188 [Contig_View]  EMC2 [Vega]
ICGC DataPortalENSG00000104412
TCGA cBioPortalEMC2
AceView (NCBI)EMC2
Genatlas (Paris)EMC2
WikiGenes9694
SOURCE (Princeton)EMC2
Genetics Home Reference (NIH)EMC2
Genomic and cartography
GoldenPath hg38 (UCSC)EMC2  -     chr8:108443583-108489188 +  8q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMC2  -     8q23.1   [Description]    (hg19-Feb_2009)
EnsemblEMC2 - 8q23.1 [CytoView hg19]  EMC2 - 8q23.1 [CytoView hg38]
Mapping of homologs : NCBIEMC2 [Mapview hg19]  EMC2 [Mapview hg38]
OMIM607722   
Gene and transcription
Genbank (Entrez)AK057571 AK222615 AK290974 BC007027 BC020753
RefSeq transcript (Entrez)NM_001329493 NM_001329494 NM_001329495 NM_014673
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EMC2
Cluster EST : UnigeneHs.654351 [ NCBI ]
CGAP (NCI)Hs.654351
Alternative Splicing GalleryENSG00000104412
Gene ExpressionEMC2 [ NCBI-GEO ]   EMC2 [ EBI - ARRAY_EXPRESS ]   EMC2 [ SEEK ]   EMC2 [ MEM ]
Gene Expression Viewer (FireBrowse)EMC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9694
GTEX Portal (Tissue expression)EMC2
Human Protein AtlasENSG00000104412-EMC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15006   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15006  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15006
Splice isoforms : SwissVarQ15006
PhosPhoSitePlusQ15006
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)EMC2
DMDM Disease mutations9694
Blocks (Seattle)EMC2
SuperfamilyQ15006
Human Protein Atlas [tissue]ENSG00000104412-EMC2 [tissue]
Peptide AtlasQ15006
HPRD09657
IPIIPI00014149   IPI00974393   IPI00979299   
Protein Interaction databases
DIP (DOE-UCLA)Q15006
IntAct (EBI)Q15006
FunCoupENSG00000104412
BioGRIDEMC2
STRING (EMBL)EMC2
ZODIACEMC2
Ontologies - Pathways
QuickGOQ15006
Ontology : AmiGOprotein binding  nucleus  cytoplasm  mitochondrion  endoplasmic reticulum  protein folding in endoplasmic reticulum  ER membrane protein complex  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  mitochondrion  endoplasmic reticulum  protein folding in endoplasmic reticulum  ER membrane protein complex  
NDEx NetworkEMC2
Atlas of Cancer Signalling NetworkEMC2
Wikipedia pathwaysEMC2
Orthology - Evolution
OrthoDB9694
GeneTree (enSembl)ENSG00000104412
Phylogenetic Trees/Animal Genes : TreeFamEMC2
HOVERGENQ15006
HOGENOMQ15006
Homologs : HomoloGeneEMC2
Homology/Alignments : Family Browser (UCSC)EMC2
Gene fusions - Rearrangements
Tumor Fusion PortalEMC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMC2
dbVarEMC2
ClinVarEMC2
1000_GenomesEMC2 
Exome Variant ServerEMC2
ExAC (Exome Aggregation Consortium)ENSG00000104412
GNOMAD BrowserENSG00000104412
Genetic variants : HAPMAP9694
Genomic Variants (DGV)EMC2 [DGVbeta]
DECIPHEREMC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEMC2 
Mutations
ICGC Data PortalEMC2 
TCGA Data PortalEMC2 
Broad Tumor PortalEMC2
OASIS PortalEMC2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEMC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EMC2
DgiDB (Drug Gene Interaction Database)EMC2
DoCM (Curated mutations)EMC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMC2 (select a term)
intoGenEMC2
Cancer3DEMC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607722   
Orphanet
DisGeNETEMC2
MedgenEMC2
Genetic Testing Registry EMC2
NextProtQ15006 [Medical]
TSGene9694
GENETestsEMC2
Target ValidationEMC2
Huge Navigator EMC2 [HugePedia]
snp3D : Map Gene to Disease9694
BioCentury BCIQEMC2
ClinGenEMC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9694
Chemical/Pharm GKB GenePA162407224
Clinical trialEMC2
Miscellaneous
canSAR (ICR)EMC2 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMC2
EVEXEMC2
GoPubMedEMC2
iHOPEMC2
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 21 13:18:06 CET 2017

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