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Aliases for EMC2 Gene

Aliases for EMC2 Gene

  • ER Membrane Protein Complex Subunit 2 2 3 5
  • Tetratricopeptide Repeat Protein 35 3 4
  • Tetratricopeptide Repeat Domain 35 2 3
  • TPR Repeat Protein 35 3 4
  • KIAA0103 3 4
  • TTC35 3 4

External Ids for EMC2 Gene

Previous HGNC Symbols for EMC2 Gene

  • KIAA0103
  • TTC35

Previous GeneCards Identifiers for EMC2 Gene

  • GC08P109455

Summaries for EMC2 Gene

GeneCards Summary for EMC2 Gene

EMC2 (ER Membrane Protein Complex Subunit 2) is a Protein Coding gene.

Gene Wiki entry for EMC2 Gene

Additional gene information for EMC2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMC2 Gene

Genomics for EMC2 Gene

GeneHancer (GH) Regulatory Elements for EMC2 Gene

Promoters and enhancers for EMC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I108442 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 567.6 +0.4 399 3.3 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 EMC2 LOC105375704 EIF3E NUDCD1 ENY2 RSPO2 GC08M108476
GH08I108467 Enhancer 1.1 Ensembl ENCODE dbSUPER 17.6 +25.0 25000 2 PKNOX1 NFRKB SIN3A FEZF1 YY1 ZNF335 CTBP1 GATA3 SMARCE1 ELF1 EMC2 RSPO2 GC08M108476
GH08I108246 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.1 -195.7 -195663 3.3 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 EIF3E AURKBPS1 TMEM74 EMC2 ENSG00000253754 GC08M108244
GH08I108119 Enhancer 1.2 FANTOM5 Ensembl ENCODE 5.8 -323.4 -323412 1.5 INSM2 MZF1 FOS SMARCC1 CEBPB ZNF398 ZEB2 MAFF PRDM6 STAT3 EMC2 AURKBPS1 RSPO2
GH08I108460 Enhancer 0.4 dbSUPER 16.9 +19.6 19611 6.3 MITF ZNF316 EMC2 EIF3E RSPO2 GC08M108476
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EMC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EMC2 Gene

Genomic Locations for EMC2 Gene
chr8:108,443,601-108,486,918
(GRCh38/hg38)
Size:
43,318 bases
Orientation:
Plus strand
chr8:109,455,830-109,499,145
(GRCh37/hg19)

Genomic View for EMC2 Gene

Genes around EMC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC2 Gene

Proteins for EMC2 Gene

  • Protein details for EMC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15006-EMC2_HUMAN
    Recommended name:
    ER membrane protein complex subunit 2
    Protein Accession:
    Q15006
    Secondary Accessions:
    • Q8WUE1

    Protein attributes for EMC2 Gene

    Size:
    297 amino acids
    Molecular mass:
    34834 Da
    Quaternary structure:
    • Component of the ER membrane protein complex (EMC).

neXtProt entry for EMC2 Gene

Post-translational modifications for EMC2 Gene

  • Ubiquitination at Lys220
  • Modification sites at PhosphoSitePlus

Other Protein References for EMC2 Gene

No data available for DME Specific Peptides for EMC2 Gene

Domains & Families for EMC2 Gene

Gene Families for EMC2 Gene

Protein Domains for EMC2 Gene

Suggested Antigen Peptide Sequences for EMC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15006

UniProtKB/Swiss-Prot:

EMC2_HUMAN :
  • Belongs to the EMC2 family.
Family:
  • Belongs to the EMC2 family.
genes like me logo Genes that share domains with EMC2: view

Function for EMC2 Gene

Phenotypes From GWAS Catalog for EMC2 Gene

Gene Ontology (GO) - Molecular Function for EMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with EMC2: view

Phenotypes for EMC2 Gene

genes like me logo Genes that share phenotypes with EMC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EMC2 Gene

Localization for EMC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMC2 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMC2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 3
mitochondrion 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for EMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 22119785
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IDA 10942595
GO:0072546 ER membrane protein complex IDA 22119785
genes like me logo Genes that share ontologies with EMC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMC2 Gene

Pathways & Interactions for EMC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034975 protein folding in endoplasmic reticulum IBA --
genes like me logo Genes that share ontologies with EMC2: view

No data available for Pathways by source and SIGNOR curated interactions for EMC2 Gene

Drugs & Compounds for EMC2 Gene

No Compound Related Data Available

Transcripts for EMC2 Gene

Unigene Clusters for EMC2 Gene

ER membrane protein complex subunit 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2:
SP3:

Relevant External Links for EMC2 Gene

GeneLoc Exon Structure for
EMC2
ECgene alternative splicing isoforms for
EMC2

Expression for EMC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMC2 Gene

Protein differential expression in normal tissues from HIPED for EMC2 Gene

This gene is overexpressed in Bone (14.3) and Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EMC2 Gene



Protein tissue co-expression partners for EMC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EMC2 Gene:

EMC2

SOURCE GeneReport for Unigene cluster for EMC2 Gene:

Hs.654351

Evidence on tissue expression from TISSUES for EMC2 Gene

  • Lung(4.3)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with EMC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMC2 Gene

Orthologs for EMC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EMC2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 98 (a)
OneToMany
EMC2 33
  • 96.18 (n)
chimpanzee
(Pan troglodytes)
Mammalia TTC35 34
  • 100 (a)
OneToOne
EMC2 33
  • 99.89 (n)
oppossum
(Monodelphis domestica)
Mammalia EMC2 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMC2 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EMC2 33 34
  • 95.17 (n)
mouse
(Mus musculus)
Mammalia Emc2 33 16 34
  • 92.03 (n)
rat
(Rattus norvegicus)
Mammalia Emc2 33
  • 91.25 (n)
chicken
(Gallus gallus)
Aves EMC2 34 33
  • 86.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMC2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc2 33
  • 80.47 (n)
Str.11799 33
African clawed frog
(Xenopus laevis)
Amphibia kiaa0103-prov 33
zebrafish
(Danio rerio)
Actinopterygii emc2 33 34
  • 74.75 (n)
Dr.7383 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10898 33
fruit fly
(Drosophila melanogaster)
Insecta CG3678 34 33
  • 52.23 (n)
OneToMany
CG17556 34
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001136 33
  • 50.53 (n)
worm
(Caenorhabditis elegans)
Secernentea Y57G7A.10 33
  • 50 (n)
emc-2 34
  • 38 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G28220 33
  • 51.28 (n)
rice
(Oryza sativa)
Liliopsida Os02g0127000 33
  • 55.87 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes oca3 33
  • 46.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04651 33
  • 43.51 (n)
Species where no ortholog for EMC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EMC2 Gene

ENSEMBL:
Gene Tree for EMC2 (if available)
TreeFam:
Gene Tree for EMC2 (if available)

Paralogs for EMC2 Gene

No data available for Paralogs for EMC2 Gene

Variants for EMC2 Gene

Sequence variations from dbSNP and Humsavar for EMC2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000123960 -- 108,456,044(+) AAAAAA/AAA intron_variant
rs1000141446 -- 108,477,612(+) A/G intron_variant
rs1000271665 -- 108,472,114(+) T/C intron_variant
rs1000274174 -- 108,471,341(+) T/G intron_variant
rs1000289146 -- 108,449,438(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EMC2 Gene

Variant ID Type Subtype PubMed ID
esv2657475 CNV deletion 23128226
nsv1028422 CNV gain 25217958
nsv1029325 CNV loss 25217958
nsv1029662 CNV loss 25217958
nsv510165 OTHER sequence alteration 20534489

Variation tolerance for EMC2 Gene

Residual Variation Intolerance Score: 35.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMC2 Gene

Disorders for EMC2 Gene

Additional Disease Information for EMC2

No disorders were found for EMC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EMC2 Gene

Publications for EMC2 Gene

  1. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson JC … Kopito RR (Nature cell biology 2011) 2 3 4 58
  2. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 58

Products for EMC2 Gene

Sources for EMC2 Gene

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