Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs201021542	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant

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
MIRT1176358	hsa-miR-4329	CLIP-seq
MIRT1176359	hsa-miR-4653-5p	CLIP-seq
MIRT1176360	hsa-miR-493	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	8280052, 9365277, 11483497, 12887891, 15657040, 16297854, 16782902, 17803994
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA	8280052
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0006909	Process	Phagocytosis	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0010008	Component	Endosome membrane	IDA	11684018
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IDA	8280052
GO:0016020	Component	Membrane	IEA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IBA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IEA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IMP	8280052
GO:0032010	Component	Phagolysosome	TAS
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	11684018
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042554	Process	Superoxide anion generation	IDA	38355798
GO:0042554	Process	Superoxide anion generation	IMP	8280052
GO:0043020	Component	NADPH oxidase complex	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	8280052, 38355798
GO:0043020	Component	NADPH oxidase complex	IEA
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0045730	Process	Respiratory burst	IEA
GO:0045730	Process	Respiratory burst	NAS	27048830

MIM	HGNC	e!Ensembl
601488	7662	ENSG00000100365

Protein

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

MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYR
QFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLP
VWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFD
FTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSD
EDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP

Sequence length

339

Interactions

View interactions

	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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Granulomatous Disease	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3, chronic granulomatous disease	rs876657377, rs387906808, rs869025585, rs28445840, rs1200078508, rs1939893821	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma	N/A	N/A	GWAS
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Drug Hypersensitivity	Associate	29679657
Eye Diseases	Associate	2183623
Fibrosis	Associate	23576480
Granulomatous Disease Chronic	Associate	19692703, 22924696, 30506560, 30924925, 33746979, 8280052
Heart Diseases	Associate	23576480
Hematologic Diseases	Associate	37058477
Inflammation	Associate	2183623, 2659589
Inflammatory Bowel Diseases	Associate	29228965, 39273699
Latent Autoimmune Diabetes in Adults	Associate	33391182
Necrosis	Associate	23576480
Neoplasm Metastasis	Associate	34708124
Neoplasms	Associate	34708124
Neutrophil Actin Dysfunction	Associate	31027832
Renal Insufficiency Chronic	Associate	35705063
Spondylitis Ankylosing	Associate	37654221

NCF4 (neutrophil cytosolic factor 4)