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EMC2 (ER membrane protein complex subunit 2)

Identity

Alias (NCBI)KIAA0103
TTC35
HGNC (Hugo) EMC2
HGNC Previous nameKIAA0103
 TTC35
HGNC Previous nametetratricopeptide repeat domain 35
LocusID (NCBI) 9694
Atlas_Id 58233
Location 8q23.1  [Link to chromosome band 8q23]
Location_base_pair Starts at 108443624 and ends at 108489196 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    ER membrane protein complex subunit 2
AliasesKIAA0103; TTC35
GeneCards (Weizmann)EMC2
Ensembl hg19 (Hinxton)ENSG00000104412 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104412 [Gene_View]  ENSG00000104412 [Sequence]  chr8:108443624-108489196 [Contig_View]  EMC2 [Vega]
ICGC DataPortalENSG00000104412
TCGA cBioPortalEMC2
AceView (NCBI)EMC2
Genatlas (Paris)EMC2
SOURCE (Princeton)EMC2
Genetics Home Reference (NIH)EMC2
Genomic and cartography
GoldenPath hg38 (UCSC)EMC2  -     chr8:108443624-108489196 +  8q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMC2  -     8q23.1   [Description]    (hg19-Feb_2009)
GoldenPathEMC2 - 8q23.1 [CytoView hg19]  EMC2 - 8q23.1 [CytoView hg38]
ImmunoBaseENSG00000104412
Genome Data Viewer NCBIEMC2 [Mapview hg19]  
OMIM607722   
Gene and transcription
Genbank (Entrez)AK057571 AK222615 AK290974 BC007027 BC020753
RefSeq transcript (Entrez)NM_001329493 NM_001329494 NM_001329495 NM_014673
Consensus coding sequences : CCDS (NCBI)EMC2
Gene ExpressionEMC2 [ NCBI-GEO ]   EMC2 [ EBI - ARRAY_EXPRESS ]   EMC2 [ SEEK ]   EMC2 [ MEM ]
Gene Expression Viewer (FireBrowse)EMC2 [ Firebrowse - Broad ]
GenevisibleExpression of EMC2 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
PhosPhoSitePlusQ15006
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)EMC2-like    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_repeat   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)EMC2
PDB (RSDB)6WW7    6Y4L    6Z3W   
PDB Europe6WW7    6Y4L    6Z3W   
PDB (PDBSum)6WW7    6Y4L    6Z3W   
PDB (IMB)6WW7    6Y4L    6Z3W   
Structural Biology KnowledgeBase6WW7    6Y4L    6Z3W   
SCOP (Structural Classification of Proteins)6WW7    6Y4L    6Z3W   
CATH (Classification of proteins structures)6WW7    6Y4L    6Z3W   
SuperfamilyQ15006
AlphaFold pdb e-kbQ15006   
Human Protein Atlas [tissue]ENSG00000104412-EMC2 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q15006
IntAct (EBI)Q15006
BioGRIDEMC2
STRING (EMBL)EMC2
ZODIACEMC2
Ontologies - Pathways
QuickGOQ15006
Ontology : AmiGOprotein binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  membrane insertase activity  extrinsic component of endoplasmic reticulum membrane  protein insertion into ER membrane by stop-transfer membrane-anchor sequence  tail-anchored membrane protein insertion into ER membrane  EMC complex  EMC complex  
Ontology : EGO-EBIprotein binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  membrane insertase activity  extrinsic component of endoplasmic reticulum membrane  protein insertion into ER membrane by stop-transfer membrane-anchor sequence  tail-anchored membrane protein insertion into ER membrane  EMC complex  EMC complex  
NDEx NetworkEMC2
Atlas of Cancer Signalling NetworkEMC2
Wikipedia pathwaysEMC2
Orthology - Evolution
OrthoDB9694
GeneTree (enSembl)ENSG00000104412
Phylogenetic Trees/Animal Genes : TreeFamEMC2
Homologs : HomoloGeneEMC2
Homology/Alignments : Family Browser (UCSC)EMC2
Gene fusions - Rearrangements
Fusion : QuiverEMC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMC2
dbVarEMC2
ClinVarEMC2
MonarchEMC2
1000_GenomesEMC2 
Exome Variant ServerEMC2
GNOMAD BrowserENSG00000104412
Varsome BrowserEMC2
ACMGEMC2 variants
VarityQ15006
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]
Somatic Mutations in Cancer : COSMICEMC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEMC2
Mutations and Diseases : HGMDEMC2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEMC2
DgiDB (Drug Gene Interaction Database)EMC2
DoCM (Curated mutations)EMC2
CIViC (Clinical Interpretations of Variants in Cancer)EMC2
Cancer3DEMC2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607722   
Orphanet
DisGeNETEMC2
MedgenEMC2
Genetic Testing Registry EMC2
NextProtQ15006 [Medical]
GENETestsEMC2
Target ValidationEMC2
Huge Navigator EMC2 [HugePedia]
ClinGenEMC2
Clinical trials, drugs, therapy
MyCancerGenomeEMC2
Protein Interactions : CTDEMC2
PharosQ15006
Clinical trialEMC2
Miscellaneous
canSAR (ICR)EMC2
HarmonizomeEMC2
DataMed IndexEMC2
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEMC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:08:06 CEST 2021

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