NCF4 (neutrophil cytosolic factor 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4689
Gene name Gene Name - the full gene name approved by the HGNC.
Neutrophil cytosolic factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NCF4
Synonyms (NCBI Gene) Gene synonyms aliases
CGD3, NCF, P40PHOX, SH3PXD4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CGD3
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It i
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs201021542 C>T Pathogenic Coding sequence variant, stop gained, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
miRTarBase ID miRNA Experiments Reference
MIRT017337 hsa-miR-335-5p Microarray 18185580
MIRT1176354 hsa-miR-3160-3p CLIP-seq
MIRT1176355 hsa-miR-3921 CLIP-seq
MIRT1176356 hsa-miR-4251 CLIP-seq
MIRT1176357 hsa-miR-4279 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
GO:0005515 Function Protein binding IPI 8280052, 9365277, 11483497, 12887891, 15657040, 16297854, 16782902
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol IDA 8280052
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601488 7662 ENSG00000100365
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q15080
Protein name Neutrophil cytosol factor 4 (NCF-4) (Neutrophil NADPH oxidase factor 4) (SH3 and PX domain-containing protein 4) (p40-phox) (p40phox)
Protein function Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (Probable). In the activated complex, electrons are first transferred from NADPH to flavin
PDB 1H6H , 1OEY , 1W6X , 1W70 , 1Z9Q , 2DYB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 45 → 136 PX domain Domain
PF00018 SH3_1 176 → 221 SH3 domain Domain
PF00564 PB1 237 → 329 PB1 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expression is restricted to hematopoietic cells.
Sequence
Sequence length 339
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Phagosome
Osteoclast differentiation
Neutrophil extracellular trap formation
Leukocyte transendothelial migration
Prion disease
Leishmaniasis
Diabetic cardiomyopathy
Lipid and atherosclerosis 		  ROS and RNS production in phagocytes
Cross-presentation of particulate exogenous antigens (phagosomes)
Detoxification of Reactive Oxygen Species
VEGFA-VEGFR2 Pathway
RHO GTPases Activate NADPH Oxidases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Granulomatous disease Chronic granulomatous disease, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III rs796065030, rs374402066, rs796065031, rs796065032, rs119103276, rs796065033, rs119103274, rs4029402, rs1563003964, rs119103270, rs1307080411, rs119103271, rs119103272, rs119103273, rs104894513
View all (100 more)		 19692703, 17435756, 29969437
Show/Hide Unknown Diseases (9)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease ClinVar
Crohn disease Crohn Disease, Regional enteritis, NON RARE IN EUROPE: Crohn disease 28067908, 17435756 ClinVar
Otitis media Otitis Media ClinVar
Granulomatous Disease granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3, chronic granulomatous disease GenCC
Show/Hide Text Mining Associations (25)
Associations from Text Mining
Disease Name Relationship Type References
Anal Gland Neoplasms Associate 29454792
Aneurysm Ruptured Associate 33174039
Arthritis Rheumatoid Associate 17897462, 33145364
Autoimmune Diseases Associate 34708124
Carcinoma Renal Cell Associate 34708124, 34872567
Cardiotoxicity Associate 23576480, 40362292
Cerebral Infarction Associate 32746852
Colorectal Neoplasms Associate 23982929
COVID 19 Associate 36052061
Crohn Disease Associate 19692703, 21900546, 29454792, 31027832