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Smg6 Gene Detail
Summary
  • Symbol
    Smg6
  • Name
    SMG6 nonsense mediated mRNA decay factor
  • Synonyms
    Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
  • Feature Type
    protein coding gene
  • IDs
    MGI:2144117
    NCBI Gene: 103677
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:74816665-75055274 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 45.76 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3952 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2144117
 protein coding gene Chr11:74816649-75055274 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018703
 protein coding gene Chr11:75642636-75896069 (+)
A/J MGP_AJ_G0018669
 protein coding gene Chr11:72834537-73077013 (+)
AKR/J MGP_AKRJ_G0018639
 protein coding gene Chr11:75043738-75291914 (+)
BALB/cJ MGP_BALBcJ_G0018643
 protein coding gene Chr11:73203206-73447701 (+)
C3H/HeJ MGP_C3HHeJ_G0018456
 protein coding gene Chr11:75048601-75305026 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019094
 protein coding gene Chr11:78018447-78270906 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016729
 protein coding gene Chr11:69857988-70093513 (+)
CAST/EiJ MGP_CASTEiJ_G0018010
 protein coding gene Chr11:75439105-75693322 (+)
CBA/J MGP_CBAJ_G0018426
 protein coding gene Chr11:81444791-81708090 (+)
DBA/2J MGP_DBA2J_G0018535
 protein coding gene Chr11:72434534-72682986 (+)
FVB/NJ MGP_FVBNJ_G0018525
 protein coding gene Chr11:72006263-72244280 (+)
LP/J MGP_LPJ_G0018606
 protein coding gene Chr11:76234228-76488839 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018551
 protein coding gene Chr11:82042804-82294352 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019134
 protein coding gene Chr11:75233655-75477582 (+)
PWK/PhJ MGP_PWKPhJ_G0017781
 protein coding gene Chr11:73133820-73379270 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017572
 protein coding gene Chr11:74811884-75047474 (+)
WSB/EiJ MGP_WSBEiJ_G0018063
 protein coding gene Chr11:75044711-75296609 (+)



Homology
more
  • Human Ortholog
    SMG6, SMG6 nonsense mediated mRNA decay factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMG6, SMG6 nonsense mediated mRNA decay factor
  • Synonyms
    C17orf31, EST1A, hEST1A, hSMG5/7a, SMG-6
  • Links
    NCBI Gene ID: 23293
    neXtProt AC: NX_Q86US8
    UniProt: Q86US8

  • Chr Location
    17p13.3; chr17:2059839-2303785 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 3 alleles in 3 genetic backgrounds
    6 phenotypes from multigenic genotypes
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygosity for insertion of a transgene into intron 6 of the gene results in embryonic lethality. Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a conditional allele activated in embryonic stem cells exhibit defective telomere maintenance and NMD. Homozygosity for the p.D1352A and p.D1391A mutations in hepatocytes affects the circadian rhythm.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    730
  • Tissues
    8
  • cDNA Data
    10
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 103677 NCBI Gene Model | MGI Sequence Detail 238610 C57BL/6J ±  kb
    transcript NM_001002764 RefSeq | MGI Sequence Detail 5835 C57BL/6  
    polypeptide P61406 UniProt | EBI | MGI Sequence Detail 1418 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      Genomic 2
      cDNA 10
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2144427
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 3
      Gene Ontology 6
      Phenotypes 25
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/19/2024
    MGI 6.24     		The Jackson Laboratory