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Aliases for MIOS Gene

Aliases for MIOS Gene

  • Meiosis Regulator For Oocyte Development 2 3 5
  • WD Repeat-Containing Protein Mio 2 3
  • Missing Oocyte, Meiosis Regulator, Homolog (Drosophila) 2
  • Missing Oocyte, Meiosis Regulator, Homolog 3
  • Missing Oocyte Meiosis Regulator Homolog 2
  • 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 PI3K / Akt Signaling and mTOR signaling pathway (KEGG).

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 GATSL3 (PubMed:25457612, PubMed:27487210).

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
GH07G007562 2 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +0.0 24 8.2 HNRNPUL1 HDGF PKNOX1 FOXA2 CREB3L1 WRNIP1 SIN3A FEZF1 YBX1 ZNF2 ENSG00000272894 COL28A1 RPA3 LOC100421597 C7orf26 MIOS ENSG00000198580 ZNF316 ENSG00000272732
GH07G007595 0.5 ENCODE 12.7 +28.8 28773 0.2 CTCF ZNF654 SMC3 REST RAD21 MIOS GC07P007610 ENSG00000272894
GH07G007502 0.7 ENCODE 5.9 -64.6 -64572 0.5 GATAD2A CTCF ZNF654 RFX1 TRIM22 CEBPG REST PPARG RAD21 ATF3 MIOS COL28A1 GC07M007325
GH07G007257 1.4 FANTOM5 Ensembl ENCODE 1.2 -307.9 -307864 4.0 PKNOX1 MAX ARID3A ZNF143 ETV6 RELB IKZF2 CREM ZNF652 MAZ C1GALT1 MIOS LOC101927354 ENSG00000236712
GH07G007510 0.2 ENCODE 5 -55.8 -55783 0.8 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 HNRNPUL1 ATF1 FOXA2 CREB3L1 SIN3A YY1 GLIS2 ELK1 ZNF143

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:
    WD repeat-containing protein mio
    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 GATSL2 and GATSL3; 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 Lys479
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MIOS Gene

Domains & Families for MIOS Gene

Gene Families for MIOS Gene

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 GATSL3 (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

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

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

Gene Ontology (GO) - Cellular Components for MIOS Gene

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

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

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

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 34 35
  • 99.43 (n)
oppossum
(Monodelphis domestica)
Mammalia MIOS 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIOS 34 35
  • 94.1 (n)
cow
(Bos Taurus)
Mammalia MIOS 34 35
  • 92.99 (n)
rat
(Rattus norvegicus)
Mammalia Mios 34
  • 92.46 (n)
mouse
(Mus musculus)
Mammalia Mios 34 16 35
  • 91.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MIOS 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIOS 34 35
  • 81.69 (n)
lizard
(Anolis carolinensis)
Reptilia MIOS 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mios 34
  • 76.47 (n)
Str.1409 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11478 34
zebrafish
(Danio rerio)
Actinopterygii mios 34 35
  • 70.08 (n)
zgc55958 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12236 34
fruit fly
(Drosophila melanogaster)
Insecta mio 34 35
  • 46.06 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007984 34
  • 44.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEA4 35 37
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
CSA.3384 35
  • 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 D.M. (Science 2013) 2 3 4 64
  2. The CASTOR proteins are arginine sensors for the mTORC1 pathway. (PMID: 26972053) Chantranupong L. … Sabatini D.M. (Cell 2016) 3 4 64
  3. TORC1 regulators Iml1/GATOR1 and GATOR2 control meiotic entry and oocyte development in Drosophila. (PMID: 25512509) Wei Y. … Lilly M.A. (Proc. Natl. Acad. Sci. U.S.A. 2014) 2 3 64
  4. missing oocyte encodes a highly conserved nuclear protein required for the maintenance of the meiotic cycle and oocyte identity in Drosophila. (PMID: 14973288) Iida T. … Lilly M.A. (Development 2004) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MIOS Gene

  • Addgene plasmids for MIOS

Sources for MIOS Gene

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