NCF2 - neutrophil cytosolic factor 2 Gene

Homo sapiens

Also known as NCF-2; NOXA2; P67PHOX; P67-PHOX

Gene ID: 4688 | Gene type: protein coding

About NCF2

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,555,562-183,601,849 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 41.9), appendix (RPKM 36.2) and 15 other tissues.

Summary

This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH Oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH Oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

NCF2 Products(5)

mRNA	Protein	Name
NM_000433.4	NP_000424.2	neutrophil cytosol factor 2 isoform 1
NM_001127651.3	NP_001121123.1	neutrophil cytosol factor 2 isoform 1
NM_001190789.2	NP_001177718.1	neutrophil cytosol factor 2 isoform 3
NM_001190794.2	NP_001177723.1	neutrophil cytosol factor 2 isoform 2
NM_001410895.1	NP_001397824.1	neutrophil cytosol factor 2 isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	7938008	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 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

NCF2 Protein Structure

TPR_11

SH3_1

PB1

SH3_1

0
100
200
300
400
526 a.a.

Protein Preferred Names

Protein Names

neutrophil cytosol factor 2

67 kDa neutrophil oxidase factor

Recombinant NCF2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74655	p67phox Protein, Human (sf9, His-GST)	P19878 (M1-V526)	≥95%
HY-P74656	p67phox Protein, Human (sf9)	P19878 (N-G&P, M1-V526)	≥95%

Related Diseases

Diseases

Alias

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

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

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

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

Lung Abscess

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

Suppurative Lymphadenitis

Suppurative Lymphadenopathy

Splenic Abscess

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

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

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Malignant Secondary Hypertension

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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-RS09078	NCF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NCF2	VGNC	VGNC:31912
Felis catus	NCF2	VGNC	VGNC:68425
Rattus norvegicus	NCF2	RGD	RGD:1309424
Macaca mulatta	NCF2	VGNC	VGNC:75140
Mus musculus	NCF2	MGD	MGI:97284
Canis familiaris	NCF2	VGNC	VGNC:43650

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