NCF2
Neutrophil cytosol factor 2
Also known as: NCF2_HUMAN, NOXA2, p67phox
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P19878
- Gene
- NCF2
- Ensembl
- ENSG00000116701
- Chromosome
- 1
- Canonical length
- 526 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
526 residues, UniProt reviewed canonical sequence.
>P19878|NCF2
1 MSLVEAISLW NEGVLAADKK DWKGALDAFS AVQDPHSRIC FNIGCMYTIL KNMTEAEKAF
61 TRSINRDKHL AVAYFQRGML YYQTEKYDLA IKDLKEALIQ LRGNQLIDYK ILGLQFKLFA
121 CEVLYNIAFM YAKKEEWKKA EEQLALATSM KSEPRHSKID KAMECVWKQK LYEPVVIPVG
181 KLFRPNERQV AQLAKKDYLG KATVVASVVD QDSFSGFAPL QPQAAEPPPR PKTPEIFRAL
241 EGEAHRVLFG FVPETKEELQ VMPGNIVFVL KKGNDNWATV MFNGQKGLVP CNYLEPVELR
301 IHPQQQPQEE SSPQSDIPAP PSSKAPGRPQ LSPGQKQKEE PKEVKLSVPM PYTLKVHYKY
361 TVVMKTQPGL PYSQVRDMVS KKLELRLEHT KLSYRPRDSN ELVPLSEDSM KDAWGQVKNY
421 CLTLWCENTV GDQGFPDEPK ESEKADANNQ TTEPQLKKGS QVEALFSYEA TQPEDLEFQE
481 GDIILVLSKV NEEWLEGECK GKVGIFPKVF VEDCATTDLE STRREVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NCF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 119 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 119 nTPM
- spleen: 74 nTPM
- lung: 61 nTPM
- appendix: 59 nTPM
- placenta: 30 nTPM
- adipose tissue: 21 nTPM
Single-cell type
- neutrophils: 1,819 nCPM
- neutrophil progenitors: 434 nCPM
- monocytes: 348 nCPM
- hofbauer cells: 204 nCPM
- monocyte progenitors: 183 nCPM
- cdc: 138 nCPM
Immune cell
- eosinophil: 1,254 nTPM
- neutrophil: 745 nTPM
- classical monocyte: 473 nTPM
- intermediate monocyte: 339 nTPM
- non-classical monocyte: 318 nTPM
- total PBMC: 286 nTPM
Brain region
- thalamus: 15 nTPM
- cerebral cortex: 15 nTPM
- white matter: 10 nTPM
- pons: 6.7 nTPM
- medulla oblongata: 6.2 nTPM
- spinal cord: 5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NCF2.
Disease | AllUniProt
Conditions NCF2 is implicated in, by any mechanism.
- Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) MIM:233710
Disease | GeneticClinVar
72 pathogenic / likely-pathogenic of 675 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.74
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.04
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular defense response
- innate immune response
- phagocytosis
- respiratory burst
- superoxide anion generation
- superoxide metabolic process
Molecular functions
- electron transfer activity
- small GTPase binding
- superoxide-generating NAD(P)H oxidase activity
- superoxide-generating NADPH oxidase activator activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PB1 domain
- SH3 domain
- Tetratricopeptide-like helical domain superfamily
- Tetratricopeptide repeat
- SH3-like domain superfamily
- NADPH Oxidase Activator
- PB1-like domain
- SH3 domain
- PB1 domain
- Tetratricopeptide repeat
- Neutrophil cytosol factor 2, PB1 domain
- Neutrophil cytosol factor 2, SH3 domain
- Neutrophil cytosol factor 2, SH3 domain 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NCF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NCF2 as an antibody target. Whether an autoantibody or antibody against NCF2 could matter depends on whether native NCF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NCF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NCF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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