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Aliases for EMC7 Gene

Aliases for EMC7 Gene

  • ER Membrane Protein Complex Subunit 7 2 3 5
  • C15orf24 3 4
  • C11orf3 3 4
  • Chromosome 15 Hypothetical ATG/GTP Binding Protein 3
  • Chromosome 15 Open Reading Frame 24 2
  • UPF0480 Protein C15orf24 3
  • ORF1-FL1 3
  • HT022 3

External Ids for EMC7 Gene

Previous HGNC Symbols for EMC7 Gene

  • C15orf24

Previous GeneCards Identifiers for EMC7 Gene

  • GC15M034377

Summaries for EMC7 Gene

GeneCards Summary for EMC7 Gene

EMC7 (ER Membrane Protein Complex Subunit 7) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include carbohydrate binding.

Additional gene information for EMC7 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMC7 Gene

Genomics for EMC7 Gene

GeneHancer (GH) Regulatory Elements for EMC7 Gene

Promoters and enhancers for EMC7 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
GH15I034100 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 225 2.6 PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 PGBD4 EMC7 AVEN KATNBL1 HNRNPLP2 EMC4 RPL32P2
GH15I034121 Enhancer 0.9 Ensembl ENCODE 12.4 -21.8 -21752 4.4 PKNOX1 BACH1 EBF1 BATF IRF4 ATF7 IKZF2 RUNX3 ZBTB20 ZBED1 EMC7 PGBD4 KATNBL1 NOP10 SLC12A6 GOLGA8B PIR44117
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EMC7 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EMC7 Gene

Genomic Locations for EMC7 Gene
chr15:34,084,017-34,101,948
(GRCh38/hg38)
Size:
17,932 bases
Orientation:
Minus strand
chr15:34,376,218-34,394,149
(GRCh37/hg19)

Genomic View for EMC7 Gene

Genes around EMC7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMC7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMC7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC7 Gene

Proteins for EMC7 Gene

  • Protein details for EMC7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPA0-EMC7_HUMAN
    Recommended name:
    ER membrane protein complex subunit 7
    Protein Accession:
    Q9NPA0
    Secondary Accessions:
    • B2RC00
    • Q96ED5

    Protein attributes for EMC7 Gene

    Size:
    242 amino acids
    Molecular mass:
    26471 Da
    Quaternary structure:
    • Component of the ER membrane protein complex (EMC).

    Three dimensional structures from OCA and Proteopedia for EMC7 Gene

neXtProt entry for EMC7 Gene

Post-translational modifications for EMC7 Gene

  • Ubiquitination at posLast=5757, Lys115, posLast=127127, and posLast=141141
  • Glycosylation at Thr113

Other Protein References for EMC7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EMC7 Gene

Domains & Families for EMC7 Gene

Gene Families for EMC7 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for EMC7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EMC7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPA0

UniProtKB/Swiss-Prot:

EMC7_HUMAN :
  • Belongs to the EMC7 family.
Family:
  • Belongs to the EMC7 family.
genes like me logo Genes that share domains with EMC7: view

Function for EMC7 Gene

Gene Ontology (GO) - Molecular Function for EMC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with EMC7: view
genes like me logo Genes that share phenotypes with EMC7: view

Animal Models for EMC7 Gene

MGI Knock Outs for EMC7:

Animal Model Products

CRISPR Products

miRNA for EMC7 Gene

miRTarBase miRNAs that target EMC7

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMC7 Gene

Localization for EMC7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMC7 Gene

Membrane; Single-pass type I membrane protein.

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 EMC7 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
nucleus 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EMC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 12975309
GO:0072546 ER membrane protein complex IDA 22119785
genes like me logo Genes that share ontologies with EMC7: view

Pathways & Interactions for EMC7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with EMC7: view

No data available for Pathways by source and SIGNOR curated interactions for EMC7 Gene

Drugs & Compounds for EMC7 Gene

No Compound Related Data Available

Transcripts for EMC7 Gene

Unigene Clusters for EMC7 Gene

ER membrane protein complex subunit 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMC7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2:
SP3: -

Relevant External Links for EMC7 Gene

GeneLoc Exon Structure for
EMC7
ECgene alternative splicing isoforms for
EMC7

Expression for EMC7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMC7 Gene

Protein differential expression in normal tissues from HIPED for EMC7 Gene

This gene is overexpressed in Brain (12.5), Islet of Langerhans (10.3), and Placenta (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EMC7 Gene



Protein tissue co-expression partners for EMC7 Gene

NURSA nuclear receptor signaling pathways regulating expression of EMC7 Gene:

EMC7

SOURCE GeneReport for Unigene cluster for EMC7 Gene:

Hs.160565

Evidence on tissue expression from TISSUES for EMC7 Gene

  • Nervous system(4.4)
  • Lung(4.3)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with EMC7: 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 EMC7 Gene

Orthologs for EMC7 Gene

This gene was present in the common ancestor of animals.

Orthologs for EMC7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMC7 33 34
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia C10H15ORF24 34
  • 95 (a)
OneToOne
EMC7 33
  • 92.25 (n)
dog
(Canis familiaris)
Mammalia EMC7 33 34
  • 92.39 (n)
oppossum
(Monodelphis domestica)
Mammalia EMC7 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1305045 33
  • 91.46 (n)
mouse
(Mus musculus)
Mammalia Emc7 33 16 34
  • 90.59 (n)
chicken
(Gallus gallus)
Aves C5H15ORF24 33
  • 84.17 (n)
EMC7 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMC7 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc7 33
  • 78.6 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5547 33
zebrafish
(Danio rerio)
Actinopterygii emc7 33 34
  • 76.14 (n)
EMC7 (2 of 2) 34
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9630 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004626 33
  • 53.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8397 33 34
  • 49.46 (n)
worm
(Caenorhabditis elegans)
Secernentea C35D10.1 33 34
  • 54.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10397 34
  • 42 (a)
OneToOne
Species where no ortholog for EMC7 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EMC7 Gene

ENSEMBL:
Gene Tree for EMC7 (if available)
TreeFam:
Gene Tree for EMC7 (if available)

Paralogs for EMC7 Gene

No data available for Paralogs for EMC7 Gene

Variants for EMC7 Gene

Sequence variations from dbSNP and Humsavar for EMC7 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000229375 -- 34,093,603(-) G/A intron_variant
rs1000644837 -- 34,087,234(-) C/T intron_variant
rs1000861747 -- 34,093,361(-) C/G/T intron_variant
rs1001014061 -- 34,099,153(-) T/C intron_variant
rs1001105038 -- 34,093,532(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EMC7 Gene

Variant ID Type Subtype PubMed ID
nsv568920 CNV gain 21841781
nsv471235 CNV gain 18288195
nsv456789 CNV gain 19166990
nsv1116065 CNV deletion 24896259
nsv1052620 CNV gain 25217958
esv3569431 CNV gain 25503493
esv33337 CNV gain+loss 17666407
dgv4456n54 CNV gain 21841781

Variation tolerance for EMC7 Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMC7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMC7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMC7 Gene

Disorders for EMC7 Gene

Additional Disease Information for EMC7

No disorders were found for EMC7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EMC7 Gene

Publications for EMC7 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. Characterization of five novel human genes in the 11q13-q22 region. (PMID: 10873569) O'Brien KP … Dumanski JP (Biochemical and biophysical research communications 2000) 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. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for EMC7 Gene

Sources for EMC7 Gene

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