NCF2 neutrophil cytosolic factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NCF2provided by HGNC
Official Full Name: neutrophil cytosolic factor 2provided by HGNC
Primary source: HGNC:HGNC:7661
See related: Ensembl:ENSG00000116701 MIM:608515; AllianceGenome:HGNC:7661
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NCF-2; NOXA2; P67PHOX; P67-PHOX
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]
Expression: Broad expression in bone marrow (RPKM 41.9), appendix (RPKM 36.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (183555562..183601849, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (182914853..182961131, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (183524697..183560049, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical and molecular significance of flow cytometric analysis for reactive oxygen species production and residual p67[phox] expression in p67[phox]-deficient chronic granulomatous disease.
Title: Clinical and molecular significance of flow cytometric analysis for reactive oxygen species production and residual p67(phox) expression in p67(phox)-deficient chronic granulomatous disease.
[Correlation study of NCF2 in chronic rhinosinusitis with nasal polyps].
Title: [Correlation study of NCF2 in chronic rhinosinusitis with nasal polyps].
M6A-mediated-upregulation of lncRNA BLACAT3 promotes bladder cancer angiogenesis and hematogenous metastasis through YBX3 nuclear shuttling and enhancing NCF2 transcription.
Title: M6A-mediated-upregulation of lncRNA BLACAT3 promotes bladder cancer angiogenesis and hematogenous metastasis through YBX3 nuclear shuttling and enhancing NCF2 transcription.
Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated with juvenile-onset systemic lupus erythematosus, but probably not with other autoimmune rheumatic diseases in children.
Title: Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated with juvenile-onset systemic lupus erythematosus, but probably not with other autoimmune rheumatic diseases in children.
NCF1/2/4 Are Prognostic Biomarkers Related to the Immune Infiltration of Kidney Renal Clear Cell Carcinoma.
Title: NCF1/2/4 Are Prognostic Biomarkers Related to the Immune Infiltration of Kidney Renal Clear Cell Carcinoma.
Novel NCF2 Mutation Causing Chronic Granulomatous Disease.
Title: Novel NCF2 Mutation Causing Chronic Granulomatous Disease.
Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival.
Title: Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival.
Upregulation of glutaminase 2 and neutrophil cytosolic factor 2 is associated with the poor prognosis of glioblastoma.
Title: Upregulation of glutaminase 2 and neutrophil cytosolic factor 2 is associated with the poor prognosis of glioblastoma.
Association of NCF2, NCF4, and CYBA Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Population.
Title: Association of NCF2, NCF4, and CYBA Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Population.
NCF2, MYO1F, S1PR4, and FCN1 as potential noninvasive diagnostic biomarkers in patients with obstructive coronary artery: A weighted gene co-expression network analysis.
Title: NCF2, MYO1F, S1PR4, and FCN1 as potential noninvasive diagnostic biomarkers in patients with obstructive coronary artery: A weighted gene co-expression network analysis.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MedGen: C1856245 OMIM: 233710 GeneReviews: Chronic Granulomatous Disease	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 downregulates the expression of neutrophil cytosolic factor 2 (NCF2) in human B cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

SHGC-76057 (e-PCR)
- UniSTS:27670

SHGC-76025 (e-PCR)
- UniSTS:38211

G35510 (e-PCR)
- UniSTS:44150

Ncf2-rs (e-PCR), detects polymorphism
- UniSTS:143993

RH11087 (e-PCR)
- UniSTS:69019

PMC197251P6 (e-PCR)
- UniSTS:271855

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables superoxide-generating NAD(P)H oxidase activity	IEA Inferred from Electronic Annotation more info
enables superoxide-generating NADPH oxidase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables superoxide-generating NADPH oxidase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular defense response	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	TAS Traceable Author Statement more info	PubMed
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in respiratory burst	NAS Non-traceable Author Statement more info	PubMed
involved_in respiratory burst	TAS Traceable Author Statement more info	PubMed
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info
involved_in superoxide anion generation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in superoxide anion generation	TAS Traceable Author Statement more info	PubMed
involved_in superoxide metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	IDA Inferred from Direct Assay more info	PubMed
part_of NADPH oxidase complex	NAS Non-traceable Author Statement more info	PubMed
part_of NADPH oxidase complex	TAS Traceable Author Statement more info	PubMed
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in phagolysosome	TAS Traceable Author Statement more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: neutrophil cytosol factor 2

Names: 67 kDa neutrophil oxidase factor; NADPH oxidase activator 2; chronic granulomatous disease, autosomal 2; neutrophil NADPH oxidase factor 2; neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007267.1 RefSeqGene

Range

4661..40020

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_88

mRNA and Protein(s)

NM_000433.4 → NP_000424.2 neutrophil cytosol factor 2 isoform 1

See identical proteins and their annotated locations for NP_000424.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) and variant 2 encode the same protein (isoform 1).

Source sequence(s)

AK312666, BC001606, BP193903, BU617086

Consensus CDS

CCDS1356.1

UniProtKB/Swiss-Prot

B2R6Q1, B4DKQ7, B4DQA7, E9PHJ2, E9PHX3, P19878, Q2PP06, Q8NFC7, Q9BV51

UniProtKB/TrEMBL

A0A0S2Z457, Q59F14

Related

ENSP00000356505.4, ENST00000367535.8

Conserved Domains (6) summary

cd06406
Location:351 → 429

PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...

cd11871
Location:244 → 297

SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

cd12046
Location:461 → 513

SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

sd00006
Location:6 → 32

TPR; TPR repeat [structural motif]

pfam00515
Location:71 → 98

TPR_1; Tetratricopeptide repeat

pfam13414
Location:41 → 98

TPR_11; TPR repeat
NM_001127651.3 → NP_001121123.1 neutrophil cytosol factor 2 isoform 1

See identical proteins and their annotated locations for NP_001121123.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform 1.

Source sequence(s)

AL137800, AW951155, DA817767, M32011

Consensus CDS

CCDS1356.1

UniProtKB/Swiss-Prot

B2R6Q1, B4DKQ7, B4DQA7, E9PHJ2, E9PHX3, P19878, Q2PP06, Q8NFC7, Q9BV51

UniProtKB/TrEMBL

A0A0S2Z457, Q59F14

Related

ENSP00000356506.1, ENST00000367536.5

Conserved Domains (6) summary

cd06406
Location:351 → 429

PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...

cd11871
Location:244 → 297

SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

cd12046
Location:461 → 513

SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

sd00006
Location:6 → 32

TPR; TPR repeat [structural motif]

pfam00515
Location:71 → 98

TPR_1; Tetratricopeptide repeat

pfam13414
Location:41 → 98

TPR_11; TPR repeat
NM_001190789.2 → NP_001177718.1 neutrophil cytosol factor 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks in-frame two consecutive exons in the CDS, as compared to variant 1. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AK296672, BU617086, DC358267, M32011

Consensus CDS

CCDS53446.1

Related

ENSP00000407217.1, ENST00000418089.5

Conserved Domains (6) summary

cd06406
Location:270 → 348

PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...

cd11871
Location:163 → 216

SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

cd12046
Location:380 → 432

SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

sd00006
Location:6 → 32

TPR; TPR repeat [structural motif]

pfam00515
Location:71 → 98

TPR_1; Tetratricopeptide repeat

pfam13414
Location:41 → 98

TPR_11; TPR repeat
NM_001190794.2 → NP_001177723.1 neutrophil cytosol factor 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AK298713, AL137800, AW951155

Consensus CDS

CCDS53447.1

UniProtKB/TrEMBL

Q59F14

Related

ENSP00000399294.1, ENST00000413720.5

Conserved Domains (6) summary

cd06406
Location:306 → 384

PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...

cd11871
Location:199 → 252

SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

cd12046
Location:416 → 468

SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

sd00006
Location:6 → 32

TPR; TPR repeat [structural motif]

pfam00515
Location:71 → 98

TPR_1; Tetratricopeptide repeat

pfam13414
Location:41 → 98

TPR_11; TPR repeat
NM_001410895.1 → NP_001397824.1 neutrophil cytosol factor 2 isoform 4

Status: REVIEWED

Source sequence(s)

AL137800

Consensus CDS

CCDS91125.1

UniProtKB/TrEMBL

A0A8V8TMB9

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

183555562..183601849 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421222.1 → XP_047277178.1 neutrophil cytosol factor 2 isoform X1

UniProtKB/Swiss-Prot

B2R6Q1, B4DKQ7, B4DQA7, E9PHJ2, E9PHX3, P19878, Q2PP06, Q8NFC7, Q9BV51

UniProtKB/TrEMBL

A0A0S2Z457
XM_011509580.2 → XP_011507882.1 neutrophil cytosol factor 2 isoform X1

See identical proteins and their annotated locations for XP_011507882.1

UniProtKB/Swiss-Prot

B2R6Q1, B4DKQ7, B4DQA7, E9PHJ2, E9PHX3, P19878, Q2PP06, Q8NFC7, Q9BV51

UniProtKB/TrEMBL

A0A0S2Z457, Q59F14

Conserved Domains (6) summary

cd06406
Location:351 → 429

PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...

cd11871
Location:244 → 297

SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

cd12046
Location:461 → 513

SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

sd00006
Location:6 → 32

TPR; TPR repeat [structural motif]

pfam00515
Location:71 → 98

TPR_1; Tetratricopeptide repeat

pfam13414
Location:41 → 98

TPR_11; TPR repeat
XM_011509581.2 → XP_011507883.1 neutrophil cytosol factor 2 isoform X1

See identical proteins and their annotated locations for XP_011507883.1

UniProtKB/Swiss-Prot

B2R6Q1, B4DKQ7, B4DQA7, E9PHJ2, E9PHX3, P19878, Q2PP06, Q8NFC7, Q9BV51

UniProtKB/TrEMBL

A0A0S2Z457, Q59F14

Conserved Domains (6) summary

cd06406
Location:351 → 429

PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...

cd11871
Location:244 → 297

SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

cd12046
Location:461 → 513

SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

sd00006
Location:6 → 32

TPR; TPR repeat [structural motif]

pfam00515
Location:71 → 98

TPR_1; Tetratricopeptide repeat

pfam13414
Location:41 → 98

TPR_11; TPR repeat
XM_005245207.2 → XP_005245264.1 neutrophil cytosol factor 2 isoform X2

UniProtKB/TrEMBL

A0A8V8TMB9, Q59F14

Related

ENSP00000513276.1, ENST00000697351.1

Conserved Domains (6) summary

cd06406
Location:315 → 393

PB1_P67; A PB1 domain is present in p67 proteins which forms a signaling complex with p40, a crucial step for activation of NADPH oxidase during phagocytosis. PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in ...

cd11871
Location:208 → 261

SH3_p67phox_N; N-terminal (or first) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

cd12046
Location:425 → 477

SH3_p67phox_C; C-terminal (or second) Src Homology 3 domain of the p67phox subunit of NADPH oxidase

sd00006
Location:6 → 32

TPR; TPR repeat [structural motif]

pfam00515
Location:71 → 98

TPR_1; Tetratricopeptide repeat

pfam13414
Location:41 → 98

TPR_11; TPR repeat
XM_047421231.1 → XP_047277187.1 neutrophil cytosol factor 2 isoform X3
XM_047421238.1 → XP_047277194.1 neutrophil cytosol factor 2 isoform X4