Gene Gene information from NCBI Gene database.
Entrez ID 50507
Gene name NADPH oxidase 4
Gene symbol NOX4
Synonyms (NCBI Gene)
KOXKOX-1RENOX
Chromosome 11
Chromosome location 11q14.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
86
miRTarBase ID miRNA Experiments Reference
MIRT019477 hsa-miR-148b-3p Microarray 17612493
MIRT437922 rno-miR-25-3p Luciferase reporter assay 23722270
MIRT437922 rno-miR-25-3p Luciferase reporter assay 23722270
MIRT756008 hsa-miR-99a-5p Luciferase reporter assayqRT-PCRWestern blot 26986073
MIRT734718 hsa-miR-214-3p Western blottingImmunohistochemistry (IHC)ImmunofluorescenceqRT-PCR 32051833
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
E2F1 Activation 18554521
NFKB1 Activation 20622120
RELA Activation 20622120
SP3 Activation 21235713
STAT1 Unknown 19834108
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding TAS 10869423
GO:0000902 Process Cell morphogenesis IEA
GO:0000902 Process Cell morphogenesis ISS 10869423
GO:0003015 Process Heart process IEA
GO:0003015 Process Heart process IGI 27525436
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605261 7891 ENSG00000086991
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPH5
Protein name NADPH oxidase 4 (EC 1.6.3.1) (Kidney oxidase-1) (KOX-1) (Kidney superoxide-producing NADPH oxidase) (Renal NAD(P)H-oxidase)
Protein function NADPH oxidase that catalyzes predominantly the reduction of oxygen to H2O2 (PubMed:14966267, PubMed:15356101, PubMed:15927447, PubMed:21343298, PubMed:25062272). Can also catalyze to a smaller extent, the reduction of oxygen to superoxide (PubMe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01794 Ferric_reduct 58 205 Ferric reductase like transmembrane component Family
PF08022 FAD_binding_8 306 417 FAD-binding domain Domain
PF08030 NAD_binding_6 423 561 Ferric reductase NAD binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by distal tubular cells in kidney cortex and in endothelial cells (at protein level). Widely expressed. Strongly expressed in kidney and to a lower extent in heart, adipocytes, hepatoma, endothelial cells, skeletal muscle, br
Sequence
Sequence length 578
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 30817088
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30813866
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 21656576
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26986073
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 25252997 Associate
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 27634671
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 19671250
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30615595
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28232723, 29039574
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 29471108
★☆☆☆☆
Found in Text Mining only