Human Gene NOX4 (uc010rtv.2) Description and Page Index
  Description: Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 3, mRNA.
RefSeq Summary (NM_001143836): This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009].
Transcript (Including UTRs)
   Position: hg19 chr11:89,057,522-89,225,387 Size: 167,866 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr11:89,059,924-89,223,706 Size: 163,783 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:89,057,522-89,225,387)mRNA (may differ from genome)Protein (514 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E9PMY6_HUMAN
DESCRIPTION: SubName: Full=NADPH oxidase 4;
SIMILARITY: Contains 1 FAD-binding FR-type domain.
SIMILARITY: Contains 1 ferric oxidoreductase domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NOX4
CDC HuGE Published Literature: NOX4
Positive Disease Associations: Amyotrophic Lateral Sclerosis
Related Studies:
  1. Amyotrophic Lateral Sclerosis
    Aleksey Shatunov et al. Lancet neurology 2010, Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study., Lancet neurology. [PubMed 20801717]
    We have found strong evidence of a genetic association of two single nucleotide polymorphisms on chromosome 9 with sporadic ALS, in line with findings from previous independent GWAS of ALS and linkage studies of ALS-frontotemporal dementia. Our findings together with these earlier findings suggest that genetic variation at this locus on chromosome 9 causes sporadic ALS and familial ALS-frontotemporal dementia. Resequencing studies and then functional analysis should be done to identify the defective gene.

-  MalaCards Disease Associations
  MalaCards Gene Search: NOX4
Diseases sorted by gene-association score: pulmonary hypertension (3), pulmonary fibrosis, idiopathic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.74 RPKM in Artery - Aorta
Total median expression: 48.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.90114-0.245 Picture PostScript Text
3' UTR -629.882402-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013112 - FAD-bd_8
IPR017927 - Fd_Rdtase_FAD-bd
IPR013130 - Fe3_Rdtase_TM_dom
IPR013121 - Fe_red_NAD-bd_6
IPR017938 - Riboflavin_synthase-like_b-brl

Pfam Domains:
PF01794 - Ferric reductase like transmembrane component
PF08022 - FAD-binding domain
PF08030 - Ferric reductase NAD binding domain

SCOP Domains:
63380 - Riboflavin synthase domain-like

ModBase Predicted Comparative 3D Structure on E9PMY6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  HW061173 - JP 2012529430-A/48: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061174 - JP 2012529430-A/49: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482133 - Sequence 116 from Patent WO2011072091.
JA482134 - Sequence 117 from Patent WO2011072091.
JB251981 - Sequence 48 from Patent EP2440214.
JB251982 - Sequence 49 from Patent EP2440214.
JE980425 - Sequence 116 from Patent EP2862929.
JE980426 - Sequence 117 from Patent EP2862929.
LP764880 - Sequence 48 from Patent EP3276004.
LP764881 - Sequence 49 from Patent EP3276004.
HW061175 - JP 2012529430-A/50: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482135 - Sequence 118 from Patent WO2011072091.
JB251983 - Sequence 50 from Patent EP2440214.
JE980427 - Sequence 118 from Patent EP2862929.
LP764882 - Sequence 50 from Patent EP3276004.
AK291830 - Homo sapiens cDNA FLJ77156 complete cds, highly similar to Homo sapiens NADPH oxidase 4 variant (NOX4) mRNA.
BC034780 - Homo sapiens mRNA similar to NADPH oxidase 4 (cDNA clone IMAGE:5179443).
AB041035 - Homo sapiens Kox-1 mRNA for kidney superoxide-producing NADPH oxidase, complete cds.
AF254621 - Homo sapiens NADPH oxidase 4 mRNA, complete cds.
AK298323 - Homo sapiens cDNA FLJ56218 complete cds, highly similar to NADPH oxidase 4 (EC 1.6.3.-).
AK057189 - Homo sapiens cDNA FLJ32627 fis, clone SYNOV1000049, highly similar to NADPH oxidase 4 (EC 1.6.3.-).
AK298376 - Homo sapiens cDNA FLJ51029 complete cds, highly similar to NADPH oxidase 4 (EC 1.6.3.-).
BC040105 - Homo sapiens NADPH oxidase 4, mRNA (cDNA clone MGC:48663 IMAGE:5590269), complete cds.
AK298357 - Homo sapiens cDNA FLJ51027 complete cds, highly similar to NADPH oxidase 4 (EC 1.6.3.-).
AK298328 - Homo sapiens cDNA FLJ51025 complete cds, highly similar to NADPH oxidase 4 (EC 1.6.3.-).
AF261943 - Homo sapiens renal NAD(P)H-oxidase renox mRNA, complete cds.
AJ704725 - Homo sapiens mRNA for NADPH oxidase 4 (NOX4 gene), splice variant A.
AJ704726 - Homo sapiens mRNA for NADPH oxidase 4 (NOX4 gene), splice variant B.
AJ704727 - Homo sapiens mRNA for NADPH oxidase 4 (NOX4 gene), splice variant C.
AJ704728 - Homo sapiens mRNA for NADPH oxidase 4 (NOX4 gene), splice variant D.
AJ704729 - Homo sapiens mRNA for NADPH oxidase 4 (NOX4 gene), splice variant E.
AY288918 - Homo sapiens NADPH oxidase 4 variant (NOX4) mRNA, complete cds.
JF432404 - Synthetic construct Homo sapiens clone IMAGE:100073606 NADPH oxidase 4 (NOX4) gene, encodes complete protein.
KJ893751 - Synthetic construct Homo sapiens clone ccsbBroadEn_03145 NOX4 gene, encodes complete protein.
JD112087 - Sequence 93111 from Patent EP1572962.
JD246993 - Sequence 228017 from Patent EP1572962.
JD246994 - Sequence 228018 from Patent EP1572962.
JD413430 - Sequence 394454 from Patent EP1572962.
JD198127 - Sequence 179151 from Patent EP1572962.
JD212734 - Sequence 193758 from Patent EP1572962.
JD542757 - Sequence 523781 from Patent EP1572962.
JD354356 - Sequence 335380 from Patent EP1572962.
JD246992 - Sequence 228016 from Patent EP1572962.
JD537804 - Sequence 518828 from Patent EP1572962.
JD246990 - Sequence 228014 from Patent EP1572962.
JD178262 - Sequence 159286 from Patent EP1572962.
JD126562 - Sequence 107586 from Patent EP1572962.
JD061993 - Sequence 43017 from Patent EP1572962.
JD357460 - Sequence 338484 from Patent EP1572962.
JD090359 - Sequence 71383 from Patent EP1572962.
JD141339 - Sequence 122363 from Patent EP1572962.
JD180813 - Sequence 161837 from Patent EP1572962.
JD066520 - Sequence 47544 from Patent EP1572962.
JD449051 - Sequence 430075 from Patent EP1572962.
AK311381 - Homo sapiens cDNA, FLJ18423.
AK311389 - Homo sapiens cDNA, FLJ18431.
CU691812 - Synthetic construct Homo sapiens gateway clone IMAGE:100021174 5' read NOX4 mRNA.
BC051371 - Homo sapiens NADPH oxidase 4, mRNA (cDNA clone IMAGE:6580820), complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: AK298323, E9PMY6, E9PMY6_HUMAN, NM_001143836, NP_001137308
UCSC ID: uc010rtv.2
RefSeq Accession: NM_001143836
Protein: E9PMY6 CCDS: CCDS44695.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK298323.1
exon count: 17CDS single in 3' UTR: no RNA size: 2039
ORF size: 1545CDS single in intron: no Alignment % ID: 99.85
txCdsPredict score: 3190.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.