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Aliases for MIOS Gene

Aliases for MIOS Gene

  • Meiosis Regulator For Oocyte Development 2 3 5
  • Missing Oocyte Meiosis Regulator Homolog 2 4
  • WD Repeat-Containing Protein Mio 2 3
  • Missing Oocyte, Meiosis Regulator, Homolog (Drosophila) 2
  • Missing Oocyte, Meiosis Regulator, Homolog 3
  • GATOR Complex Protein MIOS 3
  • WUGSC:H_DJ1159O04.1 3
  • H_DJ1159O04.1 3
  • Sea4 3
  • MIO 3

External Ids for MIOS Gene

Previous GeneCards Identifiers for MIOS Gene

  • GC07P007455

Summaries for MIOS Gene

GeneCards Summary for MIOS Gene

MIOS (Meiosis Regulator For Oocyte Development) is a Protein Coding gene. Among its related pathways are mTOR signaling pathway (KEGG) and PI3K / Akt Signaling.

UniProtKB/Swiss-Prot for MIOS Gene

  • As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).

Additional gene information for MIOS 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 MIOS Gene

Genomics for MIOS Gene

Regulatory Elements for MIOS Gene

Enhancers for MIOS 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
GH07H007562 2 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +0.0 24 8 HDGF PKNOX1 FOXA2 SIN3A FEZF1 YBX1 ZNF2 YY1 ZNF143 ZNF207 ZNF12 C7orf26 ZNF316 ENSG00000272894 LOC100421597 COL28A1 RPA3 MIOS CCZ1B ENSG00000198580
GH07H007595 0.5 ENCODE 12.7 +28.8 28773 0 CTCF ZNF654 SMC3 REST RAD21 MIOS GC07P007610 ENSG00000272894
GH07H007502 0.4 ENCODE 5.9 -64.6 -64572 0 RFX1 MIOS COL28A1 GC07M007325
GH07H007257 1.4 FANTOM5 Ensembl ENCODE 1.2 -307.9 -307864 4 PKNOX1 MAX BATF ZNF143 ATF7 ETV6 RUNX3 IKZF2 CREM SMARCA5 C1GALT1 MIOS LOC101927354 ENSG00000236712
GH07H007510 0.2 ENCODE 5 -55.8 -55783 0 ENSG00000272894 MIOS COL28A1 GC07M007325
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIOS on UCSC Golden Path with GeneCards custom track

Promoters for MIOS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000208338 528 1601 HDGF ATF1 FOXA2 SIN3A YY1 GLIS2 ELK1 ZNF143 ZNF207 ATF7

Genomic Location for MIOS Gene

Chromosome:
7
Start:
7,566,872 bp from pter
End:
7,608,929 bp from pter
Size:
42,058 bases
Orientation:
Plus strand

Genomic View for MIOS Gene

Genes around MIOS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MIOS Gene

Proteins for MIOS Gene

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

    Protein Symbol:
    Q9NXC5-MIO_HUMAN
    Recommended name:
    GATOR complex protein MIOS
    Protein Accession:
    Q9NXC5
    Secondary Accessions:
    • B2RTV6
    • O75216
    • Q7L551
    • Q9H092

    Protein attributes for MIOS Gene

    Size:
    875 amino acids
    Molecular mass:
    98584 Da
    Quaternary structure:
    • Within the GATOR complex, component of the GATOR2 subcomplex, made of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR complex strongly interacts with RRAGA/RRAGC and RRAGB/RRAGC heterodimers. The GATOR2 complex interacts with CASTOR2 and CASTOR1; the interaction is negatively regulated by arginine (PubMed:26972053). The GATOR2 complex interacts with the sestrins SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids (PubMed:25263562, PubMed:25457612, PubMed:26586190).

    Alternative splice isoforms for MIOS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIOS Gene

Post-translational modifications for MIOS Gene

  • Ubiquitination at posLast=479479
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MIOS Gene

Domains & Families for MIOS Gene

Gene Families for MIOS Gene

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

Suggested Antigen Peptide Sequences for MIOS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NXC5

UniProtKB/Swiss-Prot:

MIO_HUMAN :
  • Belongs to the WD repeat mio family.
Family:
  • Belongs to the WD repeat mio family.
genes like me logo Genes that share domains with MIOS: view

Function for MIOS Gene

Molecular function for MIOS Gene

UniProtKB/Swiss-Prot Function:
As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).

Gene Ontology (GO) - Molecular Function for MIOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26972053
genes like me logo Genes that share ontologies with MIOS: view
genes like me logo Genes that share phenotypes with MIOS: view

Animal Model Products

CRISPR Products

miRNA for MIOS Gene

miRTarBase miRNAs that target MIOS

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MIOS
  • Applied Biological Materials Clones for MIOS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MIOS Gene

Localization for MIOS Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIOS Gene

Lysosome membrane.

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 MIOS gene
Compartment Confidence
lysosome 5
nucleus 3
cytosol 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MIOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 17897319
GO:0016020 membrane IEA --
GO:0061700 GATOR2 complex IDA 23723238
genes like me logo Genes that share ontologies with MIOS: view

Pathways & Interactions for MIOS Gene

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

Pathways by source for MIOS Gene

1 Cell Signaling Technology pathway for MIOS Gene
1 KEGG pathway for MIOS Gene

Gene Ontology (GO) - Biological Process for MIOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032008 positive regulation of TOR signaling IMP 23723238
GO:0034198 cellular response to amino acid starvation IMP 23723238
GO:0034629 cellular protein complex localization IMP 23723238
genes like me logo Genes that share ontologies with MIOS: view

No data available for SIGNOR curated interactions for MIOS Gene

Drugs & Compounds for MIOS Gene

No Compound Related Data Available

Transcripts for MIOS Gene

Unigene Clusters for MIOS Gene

Missing oocyte, meiosis regulator, homolog (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MIOS
  • Applied Biological Materials Clones for MIOS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: - - -
SP2:
SP3: - -
SP4:
SP5: - - -
SP6: - -
SP7:

Relevant External Links for MIOS Gene

GeneLoc Exon Structure for
MIOS
ECgene alternative splicing isoforms for
MIOS

Expression for MIOS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MIOS Gene

This gene is overexpressed in Muscle - Skeletal (x7.9).

Protein differential expression in normal tissues from HIPED for MIOS Gene

This gene is overexpressed in Lymph node (11.6), Peripheral blood mononuclear cells (10.3), and Blymphocyte (6.2).

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



Protein tissue co-expression partners for MIOS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MIOS Gene:

MIOS

SOURCE GeneReport for Unigene cluster for MIOS Gene:

Hs.520215

Evidence on tissue expression from TISSUES for MIOS Gene

  • Nervous system(4.3)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with MIOS: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIOS Gene

Orthologs for MIOS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MIOS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIOS 33 34
  • 99.43 (n)
oppossum
(Monodelphis domestica)
Mammalia MIOS 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIOS 33 34
  • 94.1 (n)
cow
(Bos Taurus)
Mammalia MIOS 33 34
  • 92.99 (n)
rat
(Rattus norvegicus)
Mammalia Mios 33
  • 92.46 (n)
mouse
(Mus musculus)
Mammalia Mios 33 16 34
  • 91.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MIOS 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIOS 33 34
  • 81.69 (n)
lizard
(Anolis carolinensis)
Reptilia MIOS 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mios 33
  • 76.47 (n)
Str.1409 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.11478 33
zebrafish
(Danio rerio)
Actinopterygii mios 33 34
  • 70.08 (n)
zgc55958 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12236 33
fruit fly
(Drosophila melanogaster)
Insecta mio 33 34
  • 46.06 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007984 33
  • 44.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEA4 34 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
CSA.3384 34
  • 45 (a)
OneToMany
Species where no ortholog for MIOS 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)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MIOS Gene

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

Paralogs for MIOS Gene

No data available for Paralogs for MIOS Gene

Variants for MIOS Gene

Sequence variations from dbSNP and Humsavar for MIOS Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000000245 -- 7,598,731(+) TTTTT(C/G)CTGAA intron-variant
rs1000005435 -- 7,598,567(+) AATAT(C/T)TACAA intron-variant
rs1000100277 -- 7,602,826(+) ACTAC(A/G)AGGCT intron-variant
rs1000250949 -- 7,575,789(+) CACCC(C/G)TGTGT intron-variant
rs1000300538 -- 7,583,881(+) GTGAT(-/TAAAA)TACAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv6249n100 CNV gain 25217958
esv2752174 CNV gain 17911159
esv2761144 CNV gain+loss 21179565
esv3450055 CNV duplication 20981092
esv3891035 CNV gain 25118596
esv3891036 CNV gain 25118596
nsv1034199 CNV loss 25217958
nsv1145126 CNV deletion 24896259
nsv606042 CNV gain 21841781
nsv8043 CNV gain 18304495

Variation tolerance for MIOS Gene

Residual Variation Intolerance Score: 4.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 32.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIOS Gene

Human Gene Mutation Database (HGMD)
MIOS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIOS

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

Disorders for MIOS Gene

Relevant External Links for MIOS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIOS

No disorders were found for MIOS Gene.

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

Publications for MIOS Gene

  1. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. (PMID: 23723238) Bar-Peled L … Sabatini DM (Science (New York, N.Y.) 2013) 2 3 4 60
  2. KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. (PMID: 28199306) Wolfson RL … Sabatini DM (Nature 2017) 3 4 60
  3. The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway. (PMID: 26972053) Chantranupong L … Sabatini DM (Cell 2016) 3 4 60
  4. Structural basis for leucine sensing by the Sestrin2-mTORC1 pathway. (PMID: 26586190) Saxton RA … Sabatini DM (Science (New York, N.Y.) 2016) 3 4 60
  5. TORC1 regulators Iml1/GATOR1 and GATOR2 control meiotic entry and oocyte development in Drosophila. (PMID: 25512509) Wei Y … Lilly MA (Proceedings of the National Academy of Sciences of the United States of America 2014) 2 3 60

Products for MIOS Gene

  • Addgene plasmids for MIOS

Sources for MIOS Gene

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