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Aliases for SMG8 Gene

Aliases for SMG8 Gene

  • SMG8, Nonsense Mediated MRNA Decay Factor 2 3 5
  • Amplified In Breast Cancer Gene 2 Protein 3 4
  • Protein Smg-8 Homolog 3 4
  • C17orf71 3 4
  • Smg-8 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans) 2
  • Smg-8 Homolog, Nonsense Mediated MRNA Decay Factor 3
  • Chromosome 17 Open Reading Frame 71 2
  • Protein SMG8 3
  • ABC2 4

External Ids for SMG8 Gene

Previous HGNC Symbols for SMG8 Gene

  • C17orf71

Previous GeneCards Identifiers for SMG8 Gene

  • GC17P057288

Summaries for SMG8 Gene

GeneCards Summary for SMG8 Gene

SMG8 (SMG8, Nonsense Mediated MRNA Decay Factor) is a Protein Coding gene. Among its related pathways are Gene Expression and Viral mRNA Translation. An important paralog of this gene is ENSG00000265303.

UniProtKB/Swiss-Prot for SMG8 Gene

  • Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity.

Additional gene information for SMG8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMG8 Gene

Genomics for SMG8 Gene

GeneHancer (GH) Regulatory Elements for SMG8 Gene

Promoters and enhancers for SMG8 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
GH17I059209 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 564.7 +0.9 888 2.2 MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 SMG8 TUBD1 RPS6KB1 MKS1 HEATR6 TRIM37 RNFT1 NDUFB8P2 SKA2 DHX40
GH17I059151 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 24.2 -53.1 -53110 9.6 CLOCK ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 SP3 NFYC GC17M059154 PRR11 SKA2 MKS1 NDUFB8P2 TUBD1 TRIM37 RPS6KB1 SMG8 RNFT1
GH17I058658 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.9 -550.4 -550390 2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC GC17M058661 TEX14 SRSF1 MKS1 TRIM37 RAD51C DHX40 SMG8 VEZF1 MTMR4
GH17I059963 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 22.5 +755.1 755100 2.1 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 SP5 RNFT1-DT RNFT1 SMG8 PPM1D TUBD1 HEATR6 NDUFB8P2 ENSG00000274378 DHX40 ENSG00000267318
GH17I059564 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.1 +356.5 356539 2.1 CLOCK YBX1 DMAP1 IRF4 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 SP3 DHX40 HEATR6 APPBP2 TUBD1 NDUFB8P2 RPS6KB1 LOC100996660 SKA2 SMG8 TRIM37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMG8 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SMG8 Gene

Genomic Locations for SMG8 Gene
chr17:59,209,400-59,215,250
(GRCh38/hg38)
Size:
5,851 bases
Orientation:
Plus strand
chr17:57,286,761-57,292,611
(GRCh37/hg19)

Genomic View for SMG8 Gene

Genes around SMG8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMG8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMG8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMG8 Gene

Proteins for SMG8 Gene

  • Protein details for SMG8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8ND04-SMG8_HUMAN
    Recommended name:
    Protein SMG8
    Protein Accession:
    Q8ND04
    Secondary Accessions:
    • Q8N5U5
    • Q8TDN0
    • Q9H5P5
    • Q9NVQ1

    Protein attributes for SMG8 Gene

    Size:
    991 amino acids
    Molecular mass:
    109684 Da
    Quaternary structure:
    • Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminus induces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain. Forms heterodimers with SMG9; this assembly form may represent a SMG1C intermediate form.
    SequenceCaution:
    • Sequence=AAH20957.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91699.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SMG8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMG8 Gene

Post-translational modifications for SMG8 Gene

Other Protein References for SMG8 Gene

No data available for DME Specific Peptides for SMG8 Gene

Domains & Families for SMG8 Gene

Gene Families for SMG8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SMG8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMG8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8ND04

UniProtKB/Swiss-Prot:

SMG8_HUMAN :
  • Belongs to the SMG8 family.
Family:
  • Belongs to the SMG8 family.
genes like me logo Genes that share domains with SMG8: view

Function for SMG8 Gene

Molecular function for SMG8 Gene

UniProtKB/Swiss-Prot Function:
Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity.

Phenotypes From GWAS Catalog for SMG8 Gene

Gene Ontology (GO) - Molecular Function for SMG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19417104
genes like me logo Genes that share ontologies with SMG8: view
genes like me logo Genes that share phenotypes with SMG8: view

miRNA for SMG8 Gene

miRTarBase miRNAs that target SMG8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMG8 Gene

Localization for SMG8 Gene

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 SMG8 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SMG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SMG8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SMG8 Gene

Pathways & Interactions for SMG8 Gene

genes like me logo Genes that share pathways with SMG8: view

Gene Ontology (GO) - Biological Process for SMG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0045859 regulation of protein kinase activity IMP 19417104
genes like me logo Genes that share ontologies with SMG8: view

No data available for SIGNOR curated interactions for SMG8 Gene

Drugs & Compounds for SMG8 Gene

No Compound Related Data Available

Transcripts for SMG8 Gene

Unigene Clusters for SMG8 Gene

Smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMG8 Gene

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

Relevant External Links for SMG8 Gene

GeneLoc Exon Structure for
SMG8
ECgene alternative splicing isoforms for
SMG8

Expression for SMG8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMG8 Gene

Protein differential expression in normal tissues from HIPED for SMG8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.0), Pancreas (8.5), and Fetal Brain (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMG8 Gene



Protein tissue co-expression partners for SMG8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMG8 Gene:

SMG8

SOURCE GeneReport for Unigene cluster for SMG8 Gene:

Hs.7296

Evidence on tissue expression from TISSUES for SMG8 Gene

  • Nervous system(4.8)
  • Intestine(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with SMG8: 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 SMG8 Gene

Orthologs for SMG8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMG8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMG8 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia SMG8 33
  • 93.04 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 93 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SMG8 33
  • 92.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Smg8 33 16 34
  • 88.87 (n)
rat
(Rattus norvegicus)
Mammalia Smg8 33
  • 88.53 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 85 (a)
OneToMany
SMG8 33
  • 74.48 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia smg8 33
  • 70.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9776 33
zebrafish
(Danio rerio)
Actinopterygii smg8 33 34
  • 65.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6729 33 34
  • 44.24 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010179 33
  • 42.76 (n)
worm
(Caenorhabditis elegans)
Secernentea smg-8 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for SMG8 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 SMG8 Gene

ENSEMBL:
Gene Tree for SMG8 (if available)
TreeFam:
Gene Tree for SMG8 (if available)

Paralogs for SMG8 Gene

Paralogs for SMG8 Gene

genes like me logo Genes that share paralogs with SMG8: view

Variants for SMG8 Gene

Sequence variations from dbSNP and Humsavar for SMG8 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000682269 -- 59,210,918(+) C/G coding_sequence_variant, missense_variant
rs1002486480 -- 59,208,899(+) T/C upstream_transcript_variant
rs1002758661 -- 59,209,176(+) G/T upstream_transcript_variant
rs1002826048 -- 59,208,656(+) A/G upstream_transcript_variant
rs1002855436 -- 59,208,428(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SMG8 Gene

Variant ID Type Subtype PubMed ID
dgv3270n100 CNV gain 25217958
dgv3271n100 CNV gain 25217958
esv2758699 CNV gain 17122850
esv3573764 CNV gain 25503493
nsv1057152 CNV gain 25217958
nsv1062736 CNV gain 25217958
nsv1065063 CNV gain 25217958
nsv1065442 CNV gain 25217958
nsv575802 CNV loss 21841781
nsv833499 CNV loss 17160897
nsv833500 CNV loss 17160897

Variation tolerance for SMG8 Gene

Residual Variation Intolerance Score: 25.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMG8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMG8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMG8 Gene

Disorders for SMG8 Gene

Additional Disease Information for SMG8

No disorders were found for SMG8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMG8 Gene

Publications for SMG8 Gene

  1. SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay. (PMID: 19417104) Yamashita A … Ohno S (Genes & development 2009) 2 3 4 58
  2. The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large-scale conformational changes controlled by SMG-8. (PMID: 21245168) Arias-Palomo E … Llorca O (Genes & development 2011) 3 4 58
  3. Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex. (PMID: 20817927) Fernández IS … Llorca O (Nucleic acids research 2011) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 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 SMG8 Gene

Sources for SMG8 Gene

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