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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

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

Regulatory Elements for EMC2 Gene

Enhancers for EMC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G108442 1.4 ENCODE dbSUPER 17.6 +0.4 399 3.3 HDGF PKNOX1 FOXA2 MLX ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 EMC2 RSPO2 GC08M108476
GH08G108467 1.2 Ensembl ENCODE dbSUPER 17.6 +25.0 25000 2.0 TBP PKNOX1 NFRKB SIN3A FEZF1 ZBTB40 YY1 CTBP1 GATA3 CBX5 EMC2 RSPO2 GC08M108476
GH08G108460 0.7 dbSUPER 16.9 +19.6 19612 6.3 FOXA2 CEBPG GATA3 ZNF316 FOS FOSL2 MAFK CEBPB MAFG DPF2 EMC2 EIF3E RSPO2 GC08M108476
GH08G108119 1.4 FANTOM5 Ensembl ENCODE 5.8 -323.4 -323412 1.5 MXI1 JUN INSM2 CEBPG CTBP1 PATZ1 FOSL2 NFE2 FOS NFE2L2 EMC2 AURKBPS1 RSPO2
GH08G108293 0.7 ENCODE 10.7 -149.8 -149753 1.3 MTA2 BACH1 BMI1 DPF2 TBX21 EP300 FOXA1 ARID3A IKZF1 RELB EMC2 EIF3E GC08M108244 ENSG00000253754
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EMC2 on UCSC Golden Path with GeneCards custom track

Promoters for EMC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000228747 200 2400 HDGF PKNOX1 FOXA2 MLX ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for EMC2 Gene

Chromosome:
8
Start:
108,443,601 bp from pter
End:
108,486,918 bp from pter
Size:
43,318 bases
Orientation:
Plus strand

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

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

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 IDA,IEA 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

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:

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

Primer Products

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 -- 35
  • 100 (a)
OneToMany
-- 35
  • 98 (a)
OneToMany
EMC2 34
  • 96.18 (n)
chimpanzee
(Pan troglodytes)
Mammalia TTC35 35
  • 100 (a)
OneToOne
EMC2 34
  • 99.89 (n)
oppossum
(Monodelphis domestica)
Mammalia EMC2 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMC2 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EMC2 34 35
  • 95.17 (n)
mouse
(Mus musculus)
Mammalia Emc2 34 16 35
  • 92.03 (n)
rat
(Rattus norvegicus)
Mammalia Emc2 34
  • 91.25 (n)
chicken
(Gallus gallus)
Aves EMC2 34 35
  • 86.64 (n)
lizard
(Anolis carolinensis)
Reptilia EMC2 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc2 34
  • 80.47 (n)
Str.11799 34
African clawed frog
(Xenopus laevis)
Amphibia kiaa0103-prov 34
zebrafish
(Danio rerio)
Actinopterygii emc2 34 35
  • 74.75 (n)
Dr.7383 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10898 34
fruit fly
(Drosophila melanogaster)
Insecta CG3678 34 35
  • 52.23 (n)
CG17556 35
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001136 34
  • 50.53 (n)
worm
(Caenorhabditis elegans)
Secernentea Y57G7A.10 34
  • 50 (n)
emc-2 35
  • 38 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G28220 34
  • 51.28 (n)
rice
(Oryza sativa)
Liliopsida Os02g0127000 34
  • 55.87 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes oca3 34
  • 46.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04651 34
  • 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 Sequence Context AA Info Type
rs1000123960 -- 108,456,044(+) TAATT(-/AAA)AAATA intron-variant
rs1000141446 -- 108,477,612(+) CAAAA(A/G)TGAAA intron-variant
rs1000271665 -- 108,472,114(+) GAAAA(C/T)CAGAT intron-variant
rs1000274174 -- 108,471,341(+) AACAT(G/T)TTTTG intron-variant, downstream-variant-500B
rs1000289146 -- 108,449,438(+) TGGCT(A/G)ATTTT 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)

Relevant External Links for EMC2 Gene

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

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

Disorders for EMC2 Gene

Relevant External Links for EMC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.C. … Kopito R.R. (Nat. Cell Biol. 2012) 2 3 4 64
  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. … Nomura N. (DNA Res. 1995) 2 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64

Products for EMC2 Gene

Sources for EMC2 Gene

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