NCF4 - neutrophil cytosolic factor 4 Gene

Homo sapiens

Also known as NCF; CGD3; P40PHOX; SH3PXD4

Gene ID: 4689 | Gene type: protein coding

About NCF4

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:36,861,006-36,878,015 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 201 orthologues, 12 paralogues and is associated with 3 phenotypes. Biased expression in bone marrow (RPKM 51.6), appendix (RPKM 18.9) and 11 other tissues.

Summary

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 interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the Enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the Enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

NCF4 Products(2)

mRNA	Protein	Name
NM_000631.5	NP_000622.2	neutrophil cytosol factor 4 isoform 1
NM_013416.4	NP_038202.2	neutrophil cytosol factor 4 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphatidylinositol-3-phosphate binding	IDA IDA: Inferred from direct assay	11684018	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8280052	GOA
enables superoxide-generating NADPH oxidase activator activity	IMP IMP: Inferred from mutant phenotype	8280052	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in superoxide anion generation	IMP IMP: Inferred from mutant phenotype	8280052	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of NADPH oxidase complex	IDA IDA: Inferred from direct assay	8280052	GOA
located in cytosol	IDA IDA: Inferred from direct assay	8280052	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	11684018	GOA
located in membrane	IDA IDA: Inferred from direct assay	8280052	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NCF4 Protein Structure

SH3_1

PB1

0
100
200
300
339 a.a.

Protein Preferred Names

Protein Names

neutrophil cytosol factor 4

NCF-4

Related Diseases

Diseases

Alias

Granulomatous Disease, Chronic, Autosomal Recessive, 3

CGD3	Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii
Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii	Granulomatous Disease, Chronic, Due To Ncf4 Deficiency
Chronic Granulomatous Disease 3, Autosomal Recessive	Autosomal Recessive Chronic Granulomatous Disease 3
Autosomal Recessive Cytochrome B-Positive Cgd Type Iii	Cdg3
Chronic Granulomatous Disease Due To Ncf4 Deficiency	Cgd Autosomal Recessive Cytochrome B-Positive Type Iii
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii	Granulomatous Disease Chronic Due To Ncf4 Deficiency
Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3

Chronic Granulomatous Disease

Cgd	Granulomatous Disease, Chronic
Autosomal Recessive Chronic Granulomatous Disease	X-Linked Chronic Granulomatous Disease
Bridges-Good Syndrome	Congenital Dysphagocytosis
Quie Syndrome	Chronic Septic Granulomatosis
Chronic Granulomatous Disorder	Granulomatous Disease Chronic
Granulomatous Disease, Chronic, X-Linked

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy	CDA
Combined Granular-Lattice Corneal Dystrophy	Cgd2
Granular Corneal Dystrophy Type 2	Acd
Granular Corneal Dystrophy 2	Corneal Dystrophy Avellino Type
Granular Corneal Dystrophy Type Ii	Granular Corneal Dystrophy, Type Ii
Combined Granular-Lattice Corneal Dystrophies	Granular And Lattice Corneal Dystrophies
Granular-Lattice Corneal Dystrophy	Gcd2
Gcdii	Granular-Lattice Corneal Dystrophy

Granular Corneal Dystrophy

Granular Dystrophy Corneal	Corneal Dystrophies, Hereditary
Hereditary Corneal Dystrophy	Corneal Dystrophy Nos
Familial Hereditary Corneal Degeneration	Hereditary Corneal Opacity

Granulomatous Disease, Chronic, X-Linked

CGDX	Chronic Granulomatous Disease, X-Linked
X-Linked Chronic Granulomatous Disease	Cgd
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked	Cdgx
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease	Chronic Granulomatous Disease Cytochrome B-Negative X-Linked
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked	Granulomatous Disease, Chronic, X-Linked, Variant

Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2	CGD2
Ncf2 Deficiency	P67-Phox Deficiency
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii
Granulomatous Disease, Chronic, Due To Ncf2 Deficiency	Neutrophil Cytosol Factor 2 Deficiency
Chronic Granulomatous Disease 2, Autosomal Recessive	Autosomal Recessive Chronic Granulomatous Disease 2
Cdg2	Deficiency Of Ncf2
Deficiency Of P67-Phox	Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii
Deficiency Of Neutrophil Cytosol Factor 2	Avellino Corneal Dystrophy

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Granulomatous Disease, Chronic, Autosomal Recessive, 1

Chronic Granulomatous Disease Due To Deficiency Of Ncf-1	CGD1
Ncf1 Deficiency	Soluble Oxidase Component Ii Deficiency
Soc2 Deficiency	P47-Phox Deficiency
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I	Deficiency Of Neutrophil Cytosol Factor 1
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 1	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Cgd, Autosomal Recessive Cytochrome B-Positive, Type I	Granulomatous Disease, Chronic, Due To Ncf1 Deficiency
Neutrophil Cytosol Factor 1 Deficiency	Chronic Granulomatous Disease 1, Autosomal Recessive
Autosomal Recessive Chronic Granulomatous Disease 1	Cdg1
Deficiency Of Ncf1	Deficiency Of P47-Phox
Deficiency Of Soc2	Deficiency Of Soluble Oxidase Component Ii
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I	Chronic Granulomatous Disease Due To Ncf1 Deficiency

Lung Abscess

Apical Lung Abscess	Abscess Of Lung
Abscess Of Lung Nos	Pulmonary Abscess
Multiple Abscess Of Lung

Epithelial-Stromal Tgfbi Dystrophy

Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome	Fipa
Gastrointestinal Defects And Immunodeficiency Syndrome	Multiple Gastrointestinal Atresias
Familial Isolated Pituitary Adenoma	Intestinal Atresia, Multiple
Multiple Intestinal Atresia	GIDID1
Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency	Minat
Gidid	Meddra:10028210
Familial Isolated Pituitary Adenoma Syndrome	Intestinal Atresia Multiple
Combined Immunodeficiency-Enteropathy Spectrum	Cid-Mia/Early-Onset Ibd
Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency	Mia
Gastrointestinal Defect And Immunodeficiency Syndrome	Pituitary Adenoma Predisposition
Pituitary Adenoma, Familial Isolated

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09079	NCF4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NCF4	RGD	RGD:1593157
Bos taurus	NCF4	VGNC	VGNC:31913
Mus musculus	NCF4	MGD	MGI:109186
Macaca mulatta	NCF4	VGNC	VGNC:75141
Felis catus	NCF4	VGNC	VGNC:68426
Canis familiaris	NCF4	VGNC	VGNC:43651

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