This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have be... See more...

Aliases for NOX5 Gene

Aliases for NOX5 Gene

  • NADPH Oxidase 5 2 3 4 5
  • NADPH Oxidase, EF-Hand Calcium Binding Domain 5 2 3
  • EC 1.6.3.- 4

External Ids for NOX5 Gene

Previous GeneCards Identifiers for NOX5 Gene

  • GC15P065065
  • GC15P062322
  • GC15P066801
  • GC15P066939
  • GC15P066940
  • GC15P067009
  • GC15P069222
  • GC15P046055
  • GC15P068931
  • GC15P069505
  • GC15P069613
  • GC15P069669
  • GC15P068932
  • GC15P069077
  • GC15P069078
  • GC15P069396

Summaries for NOX5 Gene

Entrez Gene Summary for NOX5 Gene

  • This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for NOX5 Gene

NOX5 (NADPH Oxidase 5) is a Protein Coding gene. Diseases associated with NOX5 include Chronic Granulomatous Disease and Cardiomyopathy, Familial Hypertrophic, 2. Among its related pathways are Detoxification of Reactive Oxygen Species and Cellular Senescence (REACTOME). Gene Ontology (GO) annotations related to this gene include calcium ion binding and heme binding. An important paralog of this gene is DUOX1.

UniProtKB/Swiss-Prot Summary for NOX5 Gene

  • Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis. Isoform v2 and isoform v5 are involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin.

Gene Wiki entry for NOX5 Gene

Additional gene information for NOX5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOX5 Gene

Genomics for NOX5 Gene

GeneHancer (GH) Regulatory Elements for NOX5 Gene

Promoters and enhancers for NOX5 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
GH15J068929 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.4 353 1.9 ZFX POLR2A RFX1 SIN3A ZNF592 MYC PKNOX1 FOXP2 MAZ ZBTB40 ENSG00000137808 ENSG00000285919 NOX5 SPESP1 MG828730-023 piR-53431-217
GH15J069015 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 500.2 +84.0 84001 1 ZBTB17 GATA3 ZFHX2 ZNF335 ZNF768 ZMYM3 SPI1 EGR2 GATA2 CEBPB NOX5 piR-40810 piR-57460-221 ENSG00000137808
GH15J068958 Promoter 0.3 EPDnew 512.2 +28.0 27973 0.1 NOX5 ENSG00000137808 SPESP1 MG828730-023 piR-53431-217
GH15J068275 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -651.2 -651189 8.6 RXRA EP300 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 ENSG00000260657 FEM1B SKOR1 IQCH-AS1 PIAS1 CORO2B MAP2K5 SPESP1 NOX5 lnc-CLN6-27
GH15J069451 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +522.7 522682 4.1 ZBTB40 ZNF217 SIN3A NRF1 TCF12 USF1 POLR2G SP1 RBAK GTF2E2 NONHSAG017284.2 RPLP1 lnc-TLE3-6 CORO2B NOX5 ENSG00000207119
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOX5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOX5

Top Transcription factor binding sites by QIAGEN in the NOX5 gene promoter:
  • Evi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA5
  • MIF-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • RFX1

Genomic Locations for NOX5 Gene

Genomic Locations for NOX5 Gene
chr15:68,930,500-69,062,762
(GRCh38/hg38)
Size:
132,263 bases
Orientation:
Plus strand
chr15:69,222,839-69,355,083
(GRCh37/hg19)
Size:
132,245 bases
Orientation:
Plus strand

Genomic View for NOX5 Gene

Genes around NOX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOX5 Gene

Proteins for NOX5 Gene

  • Protein details for NOX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PH1-NOX5_HUMAN
    Recommended name:
    NADPH oxidase 5
    Protein Accession:
    Q96PH1
    Secondary Accessions:
    • B2RBJ4
    • Q08AN2
    • Q08AN3
    • Q8TEQ1
    • Q8TER4
    • Q96PH2
    • Q96PJ8
    • Q96PJ9
    • Q9H6E0
    • Q9HAM8

    Protein attributes for NOX5 Gene

    Size:
    765 amino acids
    Molecular mass:
    86439 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG33638.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15319.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB84897.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NOX5 Gene

neXtProt entry for NOX5 Gene

Post-translational modifications for NOX5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NOX5 Gene

Domains & Families for NOX5 Gene

Gene Families for NOX5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for NOX5 Gene

Suggested Antigen Peptide Sequences for NOX5 Gene

GenScript: Design optimal peptide antigens:
  • NOX5 variant lacking EF hands (A3QRJ0_HUMAN)
  • NADPH oxidase 5 (NOX5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PH1

UniProtKB/Swiss-Prot:

NOX5_HUMAN :
  • Isoform v1 and isoform v2 of this protein have four functional EF-hand calcium-binding domains. Isoform v3 and isoform v4 have the third EF-hand domain interrupted by an insert.
Domain:
  • Isoform v1 and isoform v2 of this protein have four functional EF-hand calcium-binding domains. Isoform v3 and isoform v4 have the third EF-hand domain interrupted by an insert.
genes like me logo Genes that share domains with NOX5: view

Function for NOX5 Gene

Molecular function for NOX5 Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis. Isoform v2 and isoform v5 are involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium which induces conformational changes and interaction between the N-terminal regulatory region and the C-terminal catalytic region. Inhibited by diphenylene iodonium.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.06 uM for calcium {ECO:0000269 PubMed:14982937};
UniProtKB/Swiss-Prot Induction:
Down-regulated by TGFB1.

Enzyme Numbers (IUBMB) for NOX5 Gene

Phenotypes From GWAS Catalog for NOX5 Gene

Gene Ontology (GO) - Molecular Function for NOX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0015252 proton channel activity IDA 11483596
GO:0016175 superoxide-generating NADPH oxidase activity IEA,IDA 11483596
GO:0016491 oxidoreductase activity IEA --
GO:0020037 heme binding NAS 11483596
genes like me logo Genes that share ontologies with NOX5: view
genes like me logo Genes that share phenotypes with NOX5: view

Clone Products

  • Addgene plasmids for NOX5

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NOX5 Gene

Localization for NOX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOX5 Gene

Membrane; Multi-pass membrane protein.
[Isoform v2]: Endoplasmic reticulum.
[Isoform v5]: Endoplasmic reticulum.

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 NOX5 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NOX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NOX5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOX5 Gene

Pathways & Interactions for NOX5 Gene

PathCards logo

SuperPathways for NOX5 Gene

genes like me logo Genes that share pathways with NOX5: view

Pathways by source for NOX5 Gene

2 Qiagen pathways for NOX5 Gene
  • Antioxidant Action of Vitamin-C
  • Rac1 Pathway

SIGNOR curated interactions for NOX5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NOX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001935 endothelial cell proliferation IDA 17275676
GO:0006811 ion transport IEA --
GO:0006915 apoptotic process NAS 11483596
GO:0006952 defense response IBA 21873635
genes like me logo Genes that share ontologies with NOX5: view

Drugs & Compounds for NOX5 Gene

(4) Drugs for NOX5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Magnesium Approved, Experimental, Investigational Pharma 0
Calcium Approved Nutra 7884
heme Pharma Agonist 0

(2) Additional Compounds for NOX5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with NOX5: view

Transcripts for NOX5 Gene

mRNA/cDNA for NOX5 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for NOX5

Alternative Splicing Database (ASD) splice patterns (SP) for NOX5 Gene

No ASD Table

Relevant External Links for NOX5 Gene

GeneLoc Exon Structure for
NOX5

Expression for NOX5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOX5 Gene

mRNA differential expression in normal tissues according to GTEx for NOX5 Gene

This gene is overexpressed in Spleen (x14.8) and Testis (x9.1).

Protein differential expression in normal tissues from HIPED for NOX5 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NOX5 Gene



Protein tissue co-expression partners for NOX5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOX5

SOURCE GeneReport for Unigene cluster for NOX5 Gene:

Hs.657932

mRNA Expression by UniProt/SwissProt for NOX5 Gene:

Q96PH1-NOX5_HUMAN
Tissue specificity: Mainly expressed in pachytene spermatocytes of testis and in lymphocyte-rich areas of spleen and lymph nodes. Isoform v1 is expressed in spleen. Isoform v2 is expressed in testis. Also detected in ovary, placenta, pancreas, cardiac fibroblasts. Expressed in B-cells and prostate malignant cells. Isoform v1 and isoform v3 are expressed in epithelial colorectal adenocarcinoma cells. Isoform v2 and isoform v4 are expressed in endothelial cells. Isoform v1, isoform v2, isoform v3 and isoform v4 are expressed in pulmonary artery smooth muscle cells. Isoform v2 and isoform v5 are expressed in microvascular endothelial cells (at protein level).

Evidence on tissue expression from TISSUES for NOX5 Gene

  • Kidney(4.1)
  • Spleen(4)
genes like me logo Genes that share expression patterns with NOX5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOX5 Gene

Orthologs for NOX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for NOX5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOX5 31 30
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NOX5 31 30
  • 86.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NOX5 31 30
  • 86.32 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOX5 31
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOX5 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOX5 31 30
  • 69.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOX5 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nox5 30
  • 68.15 (n)
zebrafish
(Danio rerio)
Actinopterygii nox5 30
  • 69.13 (n)
NOX5 31
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008072 30
  • 59.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nox 31 30
  • 56.89 (n)
OneToOne
CG3896 32
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 12 (a)
ManyToMany
Species where no ortholog for NOX5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 NOX5 Gene

ENSEMBL:
Gene Tree for NOX5 (if available)
TreeFam:
Gene Tree for NOX5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOX5: view image

Paralogs for NOX5 Gene

Paralogs for NOX5 Gene

genes like me logo Genes that share paralogs with NOX5: view

Variants for NOX5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOX5 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
711523 Benign: not provided 69,047,918(+) A/G INTRON_VARIANT
743298 Likely Benign: not provided 69,026,607(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
785498 Benign: not provided 69,035,397(+) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
785499 Benign: not provided 69,056,673(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
786273 Benign: not provided 69,035,394(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for NOX5 Gene

Structural Variations from Database of Genomic Variants (DGV) for NOX5 Gene

Variant ID Type Subtype PubMed ID
esv2669530 CNV deletion 23128226
esv275002 CNV gain+loss 21479260
esv33141 CNV gain 17666407
esv33333 CNV gain 17666407
esv33369 CNV gain 17666407
esv3636816 CNV loss 21293372
esv3636817 CNV loss 21293372
nsv1584 CNV deletion 18451855
nsv521203 CNV loss 19592680
nsv569808 CNV loss 21841781
nsv984088 CNV duplication 23825009

Variation tolerance for NOX5 Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.03; 90.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOX5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOX5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOX5 Gene

Disorders for NOX5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NOX5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease
  • granulomatous disease, chronic, x-linked
cardiomyopathy, familial hypertrophic, 2
  • cmh2
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards
Search NOX5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NOX5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NOX5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NOX5 Gene

Publications for NOX5 Gene

  1. A Ca(2+)-activated NADPH oxidase in testis, spleen, and lymph nodes. (PMID: 11483596) Bánfi B … Krause KH (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. Mechanism of Ca2+ activation of the NADPH oxidase 5 (NOX5). (PMID: 14982937) Bánfi B … Cox JA (The Journal of biological chemistry 2004) 3 4 23 54
  3. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PMID: 20056178) Segat L … Crovella S (Vaccine 2010) 3 41 54
  4. NOX5 variants are functionally active in endothelial cells. (PMID: 17275676) BelAiba RS … Görlach A (Free radical biology & medicine 2007) 3 4 54
  5. NADPH oxidase 5 (NOX5) interacts with and is regulated by calmodulin. (PMID: 17346712) Tirone F … Cox JA (FEBS letters 2007) 3 23 54

Products for NOX5 Gene

Sources for NOX5 Gene