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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMG6 Gene

protein-coding   GIFtS: 56
GCID: GC17M001963

smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)

(Previous name: chromosome 17 open reading frame 31 )
(Previous symbol: C17orf31)
 Explore 3 diseases affiliated with
SMG6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SMG6    

Aliases
for SMG6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Smg-6 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans)1 2     EST1 Telomerase Component Homolog A2
EST1A1 2 3 5     HSMG5/7a1
C17orf311 2 3     Telomerase-Binding Protein EST1A2
KIAA07321 3 5     EC 3.1.-.-3
SMG-61 2     HSmg5/7a1
Ever Shorter Telomeres 1A2 3     Smg-6 Homolog3
Telomerase Subunit EST1A2 3     EC 3.1.138
EST1-Like Protein A2 3     EC 3.1.2.158
Chromosome 17 Open Reading Frame 311     

External Ids:    HGNC: 178091   Entrez Gene: 232932   Ensembl: ENSG000000703667   OMIM: 6109635   UniProtKB: Q86US83   

Export aliases for SMG6 gene to outside databases

Previous GC identifers: GC17M001910 GC17M001916 GC17M001920 GC17M001924 GC17M001926 GC17M001929


Summaries
for SMG6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SMG6:
This gene encodes a protein which is part of the telomerase ribonucleoprotein complex and binds single-stranded DNA
found at the telomeres, but the product of this gene also participates in the nonsense-mediated mRNA decay (NMD)
pathway. The encoded protein contains two binding sites for components of the exon junction complex (EJC); interaction
between the encoded protein and the EJC is necessary for NMD activity. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Feb 2012)

UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8
Function: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of
chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate
telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the
fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3'
telomeric DNA, but not to a telomerase RNA template component (TER)
Function: Plays a role in nonsense-mediated mRNA decay. Is thought to provide a link to the mRNA degradation machinery
as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase
2A (PP2A), thereby triggering UPF1 dephosphorylation. Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA

Gene Wiki entry for SMG6


Genomic Views
for SMG6 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMG6 gene promoter:
         Tal-1beta   C/EBPalpha   GATA-1   E47   CHOP-10   AREB6   MZF-1   Cart-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SMG6 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMG6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMG6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

SMG6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMG6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M001963:  view genomic region     (about GC identifiers)

Start:
 1,963,133 bp from pter      End:
 2,207,069 bp from pter
Size:
 243,937 bases      Orientation:
 minus strand

Proteins
for SMG6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8 (See protein sequence)
Recommended Name: Telomerase-binding protein EST1A  
Size: 1419 amino acids; 160462 Da
Cofactor: Manganese
Subunit: Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2,
GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Interacts with TERT, independently of the
telomerase RNA. Interacts with PP2A catalytic subunits, SMG1, UPF1, UPF2 and UPF3B
Subcellular location: Nucleus, nucleolus. Chromosome, telomere (Probable). Cytoplasm, cytosol. Note=Particularly
enriched in the nucleolus
Sequence caution: Sequence=AAH64916.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA34452.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for SMG6:
2DOK (3D)        2HWW (3D)        2HWX (3D)    
Secondary accessions: O94837 Q86VH6 Q9UF60
Alternative splicing: 2 isoforms:  Q86US8-1   Q86US8-2   

Explore the universe of human proteins at neXtProt for SMG6: NX_Q86US8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86US8

    • 2 DME Specific Peptides for SMG6 (Q86US8)
     DTTRLEI  QLSSPED 

    SMG6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243756.1  NP_001243757.1  NP_060045.4  

    ENSEMBL proteins: 
     ENSP00000263073   ENSP00000346977   ENSP00000440283   ENSP00000460273   ENSP00000465793  
     ENSP00000466139   ENSP00000466951   ENSP00000459164   ENSP00000460898   ENSP00000458635  
     ENSP00000460191   ENSP00000460301   ENSP00000443920  
    Reactome Protein details: Q86US8
    Human Recombinant Protein Products: 
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    Uscn Proteins for SMG6

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IEA--
    GO:0005634nucleus IDA--
    GO:0005697telomerase holoenzyme complex TAS12699629
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--


    SMG6 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SMG6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SMG6 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011990 TPR-like_helical
     IPR018834 DNA/RNA-bd_Est1-type
     IPR006596 PINc_nuc-bd
     IPR019458 EST1

    Graphical View of Domain Structure for InterPro Entry Q86US8

    ProtoNet protein and cluster: Q86US8

    1 Blocks protein family: IPB006596 Nucleotide binding protein

    UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8
    Domain: The PINc domain confers endonuclease activity and is expected to bind the catalytic metal ion
    Similarity: Contains 1 PINc domain


    Function
    for SMG6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8
    Function: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of
    chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate
    telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the
    fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3'
    telomeric DNA, but not to a telomerase RNA template component (TER)
    Function: Plays a role in nonsense-mediated mRNA decay. Is thought to provide a link to the mRNA degradation machinery
    as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase
    2A (PP2A), thereby triggering UPF1 dephosphorylation. Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA

    Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.1.-.-1 EC 3.1.132

    miRNA
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    hsa-miR-3130-5p hsa-miR-3194-5p hsa-miR-632 hsa-miR-759 hsa-miR-3150b-3p hsa-miR-296-5p hsa-miR-30b* hsa-miR-3622a-5p
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004521endoribonuclease activity TAS--
    GO:0005515protein binding IPI--
    GO:0042162telomeric DNA binding IDA12699629
    GO:0046872metal ion binding IEA--


    SMG6 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SMG6:
     Decreased mitotic index 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Smg6):
     no phenotypic analysis 

    SMG6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SMG6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of PB1-F2
    		SMG6 Cleaves mRNA with Premature Termination Codon0.80
    		Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.77
    		Nonsense-Mediated Decay0.77
    		Phosphorylated UPF1 Recruits SMG5, SMG7, SMG6, and PP2A0.77
    2Metabolism of mRNA
    		Metabolism of mRNA1.00
    		Metabolism of RNA0.92
    3Decay of mRNA in SMG6:SMG5:SMG7:mRNA Complex
    		Decay of mRNA in SMG6:SMG5:SMG7:mRNA Complex1.00
    4Regulation of Telomerase
    		Regulation of Telomerase1.00
    5mRNA surveillance pathway
    		mRNA surveillance pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for SMG6 
        Regulation of Telomerase

    5/8        Reactome Pathways for SMG6 (see all 8)
        Decay of mRNA in SMG6:SMG5:SMG7:mRNA Complex
    Nonsense-Mediated Decay
    SMG6 Cleaves mRNA with Premature Termination Codon
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex
    Phosphorylated UPF1 Recruits SMG5, SMG7, SMG6, and PP2A


    1         Kegg Pathway  (Kegg details for SMG6):
        mRNA surveillance pathway


    SMG6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMG6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/82 Interacting proteins for SMG6 (Q86US81, 3 ENSP000002630734) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1Q92900-21, ENSP000002628034EBI-3232100,EBI-373492 I2D: score=1 STRING: ENSP00000262803
    SMG5Q9UPR33, ENSP000003552614I2D: score=1 STRING: ENSP00000355261
    TERTO147463, ENSP000003095724I2D: score=1 STRING: ENSP00000309572
    NLKQ9UBE83I2D: score=3 
    KBTBD7Q8WVZ93I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0000723telomere maintenance IMP12699629
    GO:0006406mRNA export from nucleus TAS16488880
    GO:0010467gene expression TAS--
    GO:0016070RNA metabolic process TAS--


    SMG6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SMG6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SMG6

    1 HMDB Compound for SMG6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--
    Search CenterWatch for drugs/clinical trials and news about SMG6 / EST1A 

    Transcripts
    for SMG6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SMG6 gene (4 alternative transcripts): 
    NM_001170957.1  NM_001256827.1  NM_001256828.1  NM_017575.4  

    Unigene Cluster for SMG6:

    Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
    Hs.448342  [show with all ESTs]
    Unigene Representative Sequence: AB018275
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000574501(uc021tno.1) ENST00000263073(uc002fub.1) ENST00000573166
    ENST00000354901 ENST00000570756 ENST00000576218 ENST00000536871 ENST00000573153
    ENST00000573827 ENST00000575454 ENST00000575338 ENST00000570874 ENST00000572369
    ENST00000575176 ENST00000572205 ENST00000571442 ENST00000570659 ENST00000575663


    miRNA
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    hsa-miR-3130-5p hsa-miR-3194-5p hsa-miR-632 hsa-miR-759 hsa-miR-3150b-3p hsa-miR-296-5p hsa-miR-30b* hsa-miR-3622a-5p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB018275.2 AK074270.1 AK093007.1 AK302964.1 AL080204.1 AL133597.1 AY145883.1 AY168921.1 
    BC064916.1 NR_046385.2 

    14 DOTS entries:

    DT.91729366  DT.101967794  DT.95138038  DT.91964190  DT.100804266  DT.100804262  DT.100697919  DT.100804267 
    DT.100716274  DT.102839574  DT.40233768  DT.75125399  DT.75122748  DT.95306739 

    24/191 AceView cDNA sequences (see all 191):

    CB852051 CR602852 AW196006 BM929789 BQ441787 BX092693 AI742136 BM721200 
    AL546613 AJ573346 BX357612 AI376520 BE677106 AA910570 BU527860 BM272107 
    CD244675 BM693685 BM703714 AL705416 BQ438085 AW170545 AI091741 BX279746 

    GeneLoc Exon Structure


    Expression
    for SMG6 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMG6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCTGACTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SMG6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See SMG6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMG6

    SOURCE GeneReport for Unigene cluster: Hs.448342

    UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including SMG6: 
              Telomeres & Telomerase in human mouse rat

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    In Situ
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    Orthologs
    for SMG6 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SMG6 gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SMG61 Smg-6 homolog, nonsense mediated mRNA decay factor more 73.17(n)
    72.95(a)    		   771628  XM_001234884.2  XP_001234885.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    SMG66
    		 --
    		 74(a)
    62(a)
    		 possible ortholog
    1 ↔ 1
    		 GL344562.1(26450-28178)
    GL343470.1(596243-660163)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BQ400176.12   -- 79.02(n)    BQ400176.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1003340201 telomerase-binding protein EST1A-like 58.28(n)
    55.97(a)    		   100334020  XM_002663611.2  XP_002663657.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Smg61 CG6369-PA 43.72(n)
    29.5(a)    		   42994  NM_143064.1  NP_651321.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea smg-66
    		 Suppressor with Morphological effect on Genitalia ...
    		 19(a)
    		 1 ↔ 1
    		 III(2473858-2486616)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G282606
    SMG76
    		 Telomerase activating protein Est1
    		 14(a)
    13(a)
    		 many ↔ many
    many ↔ many
    		 1(9875600-9879267)
    5(6540003-6545015)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 cig3, putative, expressed
    		 15(a)
    		 1 → many
    		 8(12722126-12730478)


    ENSEMBL Gene Tree for SMG6 (if available)
    TreeFam Gene Tree for SMG6 (if available) 

    Paralogs
    for SMG6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMG6 gene
    SMG52  SMG72  

    SMG6 for paralogs           About GeneDecksing



    Genomic Variants
    for SMG6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4164 NCBI SNPs in SMG6 are shown (see all 4164)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1849330851,2
    		--1963483(+) AGATTG/TGCCCC 4 -- nc-transcript-variantut310--------
    rs1381000551,2
    		--1963592(+) ACCAGC/GTAAAG 4 -- ut31 nc-transcript-variant0--------
    rs1495277901,2
    		--1963596(+) GCTAAA/GGGGGC 4 -- ut31 nc-transcript-variant0--------
    rs1459422901,2
    		--1963744(+) GAGCCA/GAGGGT 4 -- ut31 nc-transcript-variant0--------
    rs1889446821,2
    		--1963947(+) GGTGAA/TGGGGG 4 -- nc-transcript-variantut310--------
    rs617025981,2
    		C,F,--1963961(+) TGAGGA/G/TGAGTC 8 -- ut31 nc-transcript-variant13NA WA CSA EA 376
    rs9031581,2
    		C,F,A,H,--1964018(-) TCCCTC/TTCTCC 4 -- ut31 nc-transcript-variantese3 trp330Minor allele frequency- G:0.00EA NA MN NS WA CSA 2683
    rs1922628281,2
    		--1964095(+) GTCCAC/TGGGGA 4 -- ut31 nc-transcript-variant0--------
    rs1415308111,2
    		--1964247(+) ACTTGC/GGTTCA 4 -- ut31 nc-transcript-variant0--------
    rs10455241,2
    		--1964270(-) TCCCTA/GAGGCC 4 -- nc-transcript-variantut31 ese30--------

    HapMap Linkage Disequilibrium report for SMG6 (1963133 - 2207069 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for SMG6
         4 Indels: 45518 41486 72770 25799

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SMG6

    Disorders / Diseases
    for SMG6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SMG6 for disorders           About GeneDecksing

    OMIM gene information: 610963    OMIM disorders: --

    3 diseases for SMG6:    About MalaCards
    lissencephaly    gigantism    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: SMG6 (6 documents)

    Export disorders for SMG6 gene to outside databases

    Publications
    for SMG6 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMG6 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with SMG6)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional conservation of the telomerase protein Est1p in humans. (PubMed id 12699629)1, 2, 3 Snow B.E....Harrington L. (2003)
    2. A human homolog of yeast est1 associates with telomerase and uncaps chromosome ends when overexpressed. (PubMed id 12676087)1, 2, 3 Reichenbach P....Lingner J. (2003)
    3. SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells. (PubMed id 19060897)1, 2 Eberle A.B.... Jensen T.H. (2009)
    4. SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan. (PubMed id 18974281)1, 2 Huntzinger E.... Izaurralde E. (2008)
    5. Crystal structure of the PIN domain of human telomerase-associated protein EST1A. (PubMed id 17557331)1, 2 Takeshita D....Tanokura M. (2007)
    6. Structures of the PIN domains of SMG6 and SMG5 reveal a nuclease within the mRNA surveillance complex. (PubMed id 17053788)1, 2 Glavan F.... Conti E. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. (PubMed id 12554878)1, 2 Chiu S.-Y.... Maquat L.E. (2003)
    9. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    10. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (1998)

    External Searches for SMG6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    Genome Databases showing SMG6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23293 HGNC: 17809 AceView: SMYD4 Ensembl:ENSG00000070366 euGenes: HUgn23293
    ECgene: SMG6 Kegg: 23293 H-InvDB: SMG6

    Other Databases showing SMG6 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0732

    Specialized Databases showing SMG6 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMG6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SMG6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SMG6 gene:
    Search GeneIP for patents involving SMG6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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