Aliases for MIOX Gene

Aliases for MIOX Gene

  • Myo-Inositol Oxygenase 2 3 4 5
  • Kidney-Specific Protein 32 2 3 4
  • Aldehyde Reductase (Aldose Reductase) Like 6 2 3
  • Renal-Specific Oxidoreductase 3 4
  • Aldehyde Reductase-Like 6 3 4
  • Inositol Oxygenase 3 4
  • MI Oxygenase 3 4
  • EC 1.13.99.1 4 50
  • ALDRL6 3 4
  • KSP32 4
  • MIOX 5
  • RSOR 4

External Ids for MIOX Gene

Previous HGNC Symbols for MIOX Gene

  • ALDRL6

Previous GeneCards Identifiers for MIOX Gene

  • GC22P049216
  • GC22P049272
  • GC22P050925
  • GC22P033815

Summaries for MIOX Gene

GeneCards Summary for MIOX Gene

MIOX (Myo-Inositol Oxygenase) is a Protein Coding gene. Diseases associated with MIOX include Hypoascorbemia and Familial Expansile Osteolysis. Among its related pathways are superpathway of inositol phosphate compounds and Pentose and glucuronate interconversions. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on NAD(P)H.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MIOX Gene

Genomics for MIOX Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MIOX 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
GH22J050483 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 250.7 +1.0 956 3.7 SSRP1 CEBPA POLR2A MXD4 REST BHLHE40 MNT RAD51 THAP11 SMAD4 MIOX lnc-LMF2-1 lnc-MIOX-1 SBF1 CHKB LMF2 NCAPH2 BRD1 PLXNB2 ZBED4
GH22J050486 Promoter 0.8 EPDnew 250.7 +2.9 2852 0.1 ZIC2 MXD4 ETV4 DMAP1 GABPB1 THRB RBPJ GATAD1 ZNF652 GLIS1 MIOX piR-33614-194 LMF2
GH22J050505 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.1 +23.9 23886 4.3 BCLAF1 SP1 ZNF207 ATF2 POLR2A CEBPA BRCA1 NFIC ZIC2 ZBTB10 LMF2 NCAPH2 lnc-SCO2-1 SYCE3 TYMP MIOX ENSG00000260613 BRD1 ARSA ENSG00000272940
GH22J050451 Enhancer 1 FANTOM5 Ensembl ENCODE 16.8 -31.3 -31255 1.7 ZNF362 ATF4 DPF2 ZNF324 ZEB2 ATF3 ZNF629 ZNF660 PATZ1 ZBTB20 MIOX DENND6B TUBGCP6 CHKB PPP6R2 SBF1 NCAPH2 MOV10L1 HDAC10 lnc-LMF2-2
GH22J050443 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.7 -39.4 -39373 3.2 SSRP1 POLR2A ZNF10 ZIC2 ZBTB10 ZEB1 EBF1 RBM22 SUPT5H HNF4A HSALNG0136294 PLXNB2 SBF1 ADM2 MIOX CHKB MAPK8IP2 SYCE3 PPP6R2 DENND6B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MIOX on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MIOX

Top Transcription factor binding sites by QIAGEN in the MIOX gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ARP-1
  • C/EBPalpha
  • Egr-3
  • Elk-1
  • RelA
  • RP58

Genomic Locations for MIOX Gene

Latest Assembly
chr22:50,483,988-50,490,648
(GRCh38/hg38)
Size:
6,661 bases
Orientation:
Plus strand

Previous Assembly
chr22:50,925,288-50,929,077
(GRCh37/hg19 by Entrez Gene)
Size:
3,790 bases
Orientation:
Plus strand

chr22:50,925,213-50,929,077
(GRCh37/hg19 by Ensembl)
Size:
3,865 bases
Orientation:
Plus strand

Genomic View for MIOX Gene

Genes around MIOX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MIOX Gene

Proteins for MIOX Gene

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

    Protein Symbol:
    Q9UGB7-MIOX_HUMAN
    Recommended name:
    Inositol oxygenase
    Protein Accession:
    Q9UGB7
    Secondary Accessions:
    • Q05DJ6
    • Q5S8C9
    • Q9BZZ1
    • Q9UHB8

    Protein attributes for MIOX Gene

    Size:
    285 amino acids
    Molecular mass:
    33010 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MIOX Gene

    Alternative splice isoforms for MIOX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIOX Gene

Selected DME Specific Peptides for MIOX Gene

Q9UGB7:
  • VVGDTFPVGC
  • SFRNYTSGPLLDRVF
  • HPDKDWF
  • TFQDNPDLQDP
  • EFNKFDLY
  • LVDESDPDVDFPNSFHAFQTAEGIR
  • HDLGKVL
  • TYKLMHT
  • LRPYYQGL

Post-translational modifications for MIOX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MIOX Gene

Domains & Families for MIOX Gene

Gene Families for MIOX Gene

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

Protein Domains for MIOX Gene

InterPro:
Blocks:
  • Protein of unknown function DUF706

Suggested Antigen Peptide Sequences for MIOX Gene

GenScript: Design optimal peptide antigens:
  • Myo-inositol oxygenase (A6PVH4_HUMAN)
  • Renal-specific oxidoreductase (MIOX_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UGB7

UniProtKB/Swiss-Prot:

MIOX_HUMAN :
  • Belongs to the myo-inositol oxygenase family.
Family:
  • Belongs to the myo-inositol oxygenase family.
genes like me logo Genes that share domains with MIOX: view

Function for MIOX Gene

Molecular function for MIOX Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=myo-inositol + O2 = D-glucuronate + H(+) + H2O; Xref=Rhea:RHEA:23696, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17268, ChEBI:CHEBI:58720; EC=1.13.99.1; Evidence={ECO:0000269|PubMed:18364358};.

Enzyme Numbers (IUBMB) for MIOX Gene

Gene Ontology (GO) - Molecular Function for MIOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004033 aldo-keto reductase (NADP) activity IEA,ISS --
GO:0005506 iron ion binding IEA --
GO:0008199 ferric iron binding IDA 18364358
GO:0016491 oxidoreductase activity IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
genes like me logo Genes that share ontologies with MIOX: view
genes like me logo Genes that share phenotypes with MIOX: view

Animal Models for research

  • Taconic Biosciences Mouse Models for MIOX

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIOX

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MIOX Gene

Localization for MIOX Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIOX Gene

Cytoplasm.

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 MIOX gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MIOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol TAS --
GO:0016234 inclusion body ISS --
genes like me logo Genes that share ontologies with MIOX: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MIOX Gene

Pathways & Interactions for MIOX Gene

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

Pathways by source for MIOX Gene

UniProtKB/Swiss-Prot Q9UGB7-MIOX_HUMAN

  • Pathway: Polyol metabolism; myo-inositol degradation into D-glucuronate; D-glucuronate from myo-inositol: step 1/1.

Interacting Proteins for MIOX Gene

Gene Ontology (GO) - Biological Process for MIOX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019310 inositol catabolic process IEA,ISS --
GO:0043647 inositol phosphate metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MIOX: view

No data available for SIGNOR curated interactions for MIOX Gene

Drugs & Compounds for MIOX Gene

(7) Drugs for MIOX Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Inositol Approved, Investigational, Withdrawn Pharma 118
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
Fe2+ Experimental Pharma 0

(4) Additional Compounds for MIOX Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Glucuronic acid
  • GlcAa
  • GlcAalpha
  • D-Glucuronate
  • alpha-D-Glucopyranuronic acid
  • alpha-D-Glucuronic acid
70021-34-0
genes like me logo Genes that share compounds with MIOX: view

Transcripts for MIOX Gene

mRNA/cDNA for MIOX Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIOX

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

No ASD Table

Relevant External Links for MIOX Gene

GeneLoc Exon Structure for
MIOX

Expression for MIOX Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Kidney - Cortex (x50.8).

Protein differential expression in normal tissues from HIPED for MIOX Gene

This gene is overexpressed in Kidney (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MIOX Gene



Protein tissue co-expression partners for MIOX Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MIOX

SOURCE GeneReport for Unigene cluster for MIOX Gene:

Hs.129227

mRNA Expression by UniProt/SwissProt for MIOX Gene:

Q9UGB7-MIOX_HUMAN
Tissue specificity: Kidney specific.

Evidence on tissue expression from TISSUES for MIOX Gene

  • Kidney(4.8)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with MIOX: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MIOX Gene

Orthologs for MIOX Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MIOX Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MIOX 30
  • 100 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MIOX 29 30
  • 87.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MIOX 29 30
  • 86.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Miox 29 16 30
  • 86.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Miox 29
  • 85.5 (n)
Oppossum
(Monodelphis domestica)
Mammalia MIOX 30
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MIOX 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia miox 29
  • 66.67 (n)
Zebrafish
(Danio rerio)
Actinopterygii miox 29 30
  • 68.82 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9888 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG6910 29 30
  • 62.42 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003636 29
  • 61.78 (n)
Worm
(Caenorhabditis elegans)
Secernentea C54E4.5 29 30
  • 57.38 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR482W 29
  • 51.84 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E10737g 29
  • 49.93 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MIOX1 29
  • 55.04 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6304 29
Rice
(Oryza sativa)
Liliopsida Os06g0561000 29
  • 62.13 (n)
Os.6345 29
Barley
(Hordeum vulgare)
Liliopsida Hv.1000 29
Wheat
(Triticum aestivum)
Liliopsida Ta.2631 29
Corn
(Zea mays)
Liliopsida Zm.16227 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.33 30
  • 57 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU08856 29
  • 52.64 (n)
Species where no ortholog for MIOX was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MIOX Gene

ENSEMBL:
Gene Tree for MIOX (if available)
TreeFam:
Gene Tree for MIOX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MIOX: view image
Alliance of Genome Resources:
Additional Orthologs for MIOX

Paralogs for MIOX Gene

Pseudogenes.org Pseudogenes for MIOX Gene

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

No data available for Paralogs for MIOX Gene

Variants for MIOX Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MIOX Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs149138591 Likely Benign: not provided 50,489,547(+) C/T
NM_017584.6(MIOX):c.652C>T (p.Arg218Trp)
MISSENSE
rs199999247 Benign: not provided 50,488,037(+) A/G
NM_017584.6(MIOX):c.329A>G (p.His110Arg)
MISSENSE
rs41280565 Benign: not provided 50,489,527(+) C/T
NM_017584.6(MIOX):c.637-5C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MIOX Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1057656 CNV gain 25217958
nsv1073179 CNV deletion 25765185
nsv1160782 CNV deletion 26073780
nsv3669 CNV insertion 18451855
nsv471224 CNV loss 18288195
nsv829338 CNV gain 20364138
nsv834238 CNV loss 17160897
nsv834239 CNV loss 17160897
nsv955201 CNV deletion 24416366

Variation tolerance for MIOX Gene

Residual Variation Intolerance Score: 90.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MIOX Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIOX
Leiden Open Variation Database (LOVD)
MIOX

SNP Genotyping and Copy Number Assays for research

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

Disorders for MIOX Gene

MalaCards: The human disease database

(3) MalaCards diseases for MIOX Gene - From: COP

Disorder Aliases PubMed IDs
hypoascorbemia
  • scurvy
familial expansile osteolysis
  • feo
lactase deficiency, congenital
  • alactasia, congenital
- elite association - COSMIC cancer census association via MalaCards
Search MIOX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MIOX

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MIOX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MIOX Gene

Publications for MIOX Gene

  1. Structural and biophysical characterization of human myo-inositol oxygenase. (PMID: 18364358) Thorsell AG … Hallberg BM (The Journal of biological chemistry 2008) 3 4 22
  2. Molecular cloning, expression, and characterization of myo-inositol oxygenase from mouse, rat, and human kidney. (PMID: 15504367) Arner RJ … Reddy CC (Biochemical and biophysical research communications 2004) 3 4 22
  3. Identification of a renal-specific oxido-reductase in newborn diabetic mice. (PMID: 10944187) Yang Q … Kanwar YS (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4
  4. Polymorphisms of myo-inositol oxygenase gene are associated with Type 1 diabetes mellitus. (PMID: 19896870) Yang B … Demaine AG (Journal of diabetes and its complications 2010) 3 40
  5. Up-regulation of human myo-inositol oxygenase by hyperosmotic stress in renal proximal tubular epithelial cells. (PMID: 15778219) Prabhu KS … Reddy CC (The Journal of biological chemistry 2005) 3 22

Products for MIOX Gene

Sources for MIOX Gene