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Aliases for EMC8 Gene

Aliases for EMC8 Gene

  • ER Membrane Protein Complex Subunit 8 2 3 5
  • Neighbor Of COX4 2 3 4
  • Family With Sequence Similarity 158, Member B 2 3
  • COX4 Neighbor 2 3
  • C16orf2 3 4
  • C16orf4 3 4
  • FAM158B 3 4
  • COX4NB 3 4
  • NOC4 3 4
  • Chromosome 16 Open Reading Frame 4 2
  • Chromosome 16 Open Reading Frame 2 2
  • Protein FAM158B 4
  • COX4AL 4

External Ids for EMC8 Gene

Previous HGNC Symbols for EMC8 Gene

  • C16orf4
  • NOC4
  • C16orf2
  • COX4NB

Previous GeneCards Identifiers for EMC8 Gene

  • GC16M085813

Summaries for EMC8 Gene

GeneCards Summary for EMC8 Gene

EMC8 (ER Membrane Protein Complex Subunit 8) is a Protein Coding gene. An important paralog of this gene is EMC9.

Additional gene information for EMC8 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 EMC8 Gene

Genomics for EMC8 Gene

Regulatory Elements for EMC8 Gene

Enhancers for EMC8 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
GH16H085898 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -108.2 -108247 19.1 HDGF PKNOX1 ATF1 ZNF133 SIN3A ARID4B YY1 TCF12 GLIS2 ELK1 IRF8 COX4I1 EMC8 KIAA0513 MIR6774
GH16H085565 2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +230.5 230450 7.5 HDGF PKNOX1 ARNT SIN3A FEZF1 YBX1 ZNF2 ZBTB7B YY1 ZNF766 MTHFSD ENSG00000270184 RNU1-103P KLHL36 RN7SL381P ZDHHC7 ENSG00000269898 ENSG00000261177 ENSG00000269826 ENSG00000260859
GH16H085518 2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +276.9 276945 8.2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A YBX1 FEZF1 ENSG00000270184 RNU1-103P KLHL36 RN7SL381P ZDHHC7 CRISPLD2 GSE1 TLDC1 ENSG00000269898 ENSG00000261177
GH16H085420 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +377.2 377227 3.1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B EMC8 KLHL36 FAM92B PIR52880 LOC101928502
GH16H085934 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -136.6 -136616 2.9 PKNOX1 TBL1XR1 RB1 SIN3A BATF ZNF143 ZNF207 ATF7 ETV6 RUNX3 IRF8 COX4I1 EMC8 ENSG00000270124 LOC105371388 PIR52537
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EMC8 on UCSC Golden Path with GeneCards custom track

Promoters for EMC8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089067 208 2401 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 ZNF143 SP5

Genomic Locations for EMC8 Gene

Genomic Locations for EMC8 Gene
chr16:85,771,758-85,799,608
(GRCh38/hg38)
Size:
27,851 bases
Orientation:
Minus strand
chr16:85,805,364-85,833,214
(GRCh37/hg19)

Genomic View for EMC8 Gene

Genes around EMC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC8 Gene

Proteins for EMC8 Gene

  • Protein details for EMC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43402-EMC8_HUMAN
    Recommended name:
    ER membrane protein complex subunit 8
    Protein Accession:
    O43402
    Secondary Accessions:
    • C9JB21

    Protein attributes for EMC8 Gene

    Size:
    210 amino acids
    Molecular mass:
    23773 Da
    Quaternary structure:
    • Component of the ER membrane protein complex (EMC).

    Alternative splice isoforms for EMC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMC8 Gene

Post-translational modifications for EMC8 Gene

  • Ubiquitination at posLast=100100 and isoforms=2110
  • Modification sites at PhosphoSitePlus

Other Protein References for EMC8 Gene

No data available for DME Specific Peptides for EMC8 Gene

Domains & Families for EMC8 Gene

Gene Families for EMC8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EMC8 Gene

Suggested Antigen Peptide Sequences for EMC8 Gene

Graphical View of Domain Structure for InterPro Entry

O43402

UniProtKB/Swiss-Prot:

EMC8_HUMAN :
  • Belongs to the EMC8/EMC9 family.
Family:
  • Belongs to the EMC8/EMC9 family.
genes like me logo Genes that share domains with EMC8: view

Function for EMC8 Gene

Phenotypes From GWAS Catalog for EMC8 Gene

Gene Ontology (GO) - Molecular Function for EMC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with EMC8: view
genes like me logo Genes that share phenotypes with EMC8: view

Animal Models for EMC8 Gene

MGI Knock Outs for EMC8:
  • Emc8 tm1b(EUCOMM)Hmgu

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMC8 Gene

Localization for EMC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMC8 Gene

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 EMC8 gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EMC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10337626
GO:0005737 cytoplasm IDA,TAS 22119785
GO:0005739 mitochondrion TAS,IEA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with EMC8: view

Pathways & Interactions for EMC8 Gene

No data available for Pathways by source and SIGNOR curated interactions for EMC8 Gene

Drugs & Compounds for EMC8 Gene

No Compound Related Data Available

Transcripts for EMC8 Gene

Unigene Clusters for EMC8 Gene

ER membrane protein complex subunit 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMC8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6
SP1: -
SP2:
SP3: - - -
SP4: -
SP5: - -
SP6:

Relevant External Links for EMC8 Gene

GeneLoc Exon Structure for
EMC8
ECgene alternative splicing isoforms for
EMC8

Expression for EMC8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMC8 Gene

Protein differential expression in normal tissues from HIPED for EMC8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.1), Bone (7.3), and Bone marrow stromal cell (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EMC8 Gene



Protein tissue co-expression partners for EMC8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EMC8 Gene:

EMC8

SOURCE GeneReport for Unigene cluster for EMC8 Gene:

Hs.173162

mRNA Expression by UniProt/SwissProt for EMC8 Gene:

O43402-EMC8_HUMAN
Tissue specificity: Expressed in liver, pancreas, heart, lung, kidney, brain, skeletal muscle, and placenta. Expression levels are highest in pancreas and moderate in heart, skeletal muscle, and placenta.

Evidence on tissue expression from TISSUES for EMC8 Gene

  • Eye(4.3)
  • Muscle(4.2)
  • Nervous system(3.3)
  • Lung(2.7)
  • Skin(2)
genes like me logo Genes that share expression patterns with EMC8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMC8 Gene

Orthologs for EMC8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EMC8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX4NB 34 33
  • 98.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EMC8 33 34
  • 93.33 (n)
cow
(Bos Taurus)
Mammalia EMC8 33 34
  • 92.7 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EMC8 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emc8 16 34 33
  • 87.6 (n)
rat
(Rattus norvegicus)
Mammalia Emc8 33
  • 87.28 (n)
chicken
(Gallus gallus)
Aves EMC8 34 33
  • 79.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMC8 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc8 33
  • 71.45 (n)
MGC75783 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4449 33
zebrafish
(Danio rerio)
Actinopterygii emc8 33 34
  • 72.14 (n)
Dr.3514 33
fruit fly
(Drosophila melanogaster)
Insecta CG3501 34
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25H2.4 34
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2731 33
  • 43.26 (n)
rice
(Oryza sativa)
Liliopsida Os04g0270200 33
  • 51.97 (n)
Species where no ortholog for EMC8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 EMC8 Gene

ENSEMBL:
Gene Tree for EMC8 (if available)
TreeFam:
Gene Tree for EMC8 (if available)

Paralogs for EMC8 Gene

Paralogs for EMC8 Gene

(2) SIMAP similar genes for EMC8 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EMC8: view

Variants for EMC8 Gene

Sequence variations from dbSNP and Humsavar for EMC8 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000092520 -- 85,780,079(+) AATTC(C/T)GAGAA intron-variant
rs1000109301 -- 85,782,806(+) TCCAT(A/T)TCCAG intron-variant
rs1000155909 -- 85,779,323(+) AGTAT(A/C)AGATG utr-variant-3-prime
rs1000235586 -- 85,794,967(+) CTGGT(A/T)AGTGG intron-variant
rs1000266894 -- 85,795,095(+) ACAGA(A/C)GTGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EMC8 Gene

Variant ID Type Subtype PubMed ID
nsv833316 CNV loss 17160897
nsv483044 CNV gain 15286789
esv4262 OTHER complex 18987735

Variation tolerance for EMC8 Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMC8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMC8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMC8 Gene

Disorders for EMC8 Gene

Relevant External Links for EMC8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMC8

No disorders were found for EMC8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EMC8 Gene

Publications for EMC8 Gene

  1. The 5' region of the COX4 gene contains a novel overlapping gene, NOC4. (PMID: 10337626) Bachman NJ … Lomax MI (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 2 3 4 22 60
  2. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson JC … Kopito RR (Nature cell biology 2011) 2 3 4 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for EMC8 Gene

Sources for EMC8 Gene

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