NCF2 (neutrophil cytosolic factor 2)

2007-02-01  

Identity

HGNC
NCF2
LOCATION
1q25.3
LOCUSID
4688
ALIAS
NCF-2,NOXA2,P67-PHOX,P67PHOX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4688
MIM: 608515
HGNC: 7661
Ensembl: ENSG00000116701

Variants:

dbSNP: 4688
ClinVar: 4688
TCGA: ENSG00000116701
COSMIC: NCF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116701ENST00000367535P19878
ENSG00000116701ENST00000367535A0A0S2Z457
ENSG00000116701ENST00000367536P19878
ENSG00000116701ENST00000367536A0A0S2Z457
ENSG00000116701ENST00000413720P19878
ENSG00000116701ENST00000418089P19878
ENSG00000116701ENST00000419402B1ALB7
ENSG00000116701ENST00000420553B1ALB6

Expression (GTEx)

0
100
200
300
400
500
600
700
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Leukocyte transendothelial migrationKEGGko04670
Leukocyte transendothelial migrationKEGGhsa04670
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing-Cross presentationREACTOMER-HSA-1236975
Cross-presentation of particulate exogenous antigens (phagosomes)REACTOMER-HSA-1236973
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate NADPH OxidasesREACTOMER-HSA-5668599
Cellular responses to stressREACTOMER-HSA-2262752
Detoxification of Reactive Oxygen SpeciesREACTOMER-HSA-3299685
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
118937322002Intracellular localization and preassembly of the NADPH oxidase complex in cultured endothelial cells.96
220461412011Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.90
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
162937942006Coronary artery superoxide production and nox isoform expression in human coronary artery disease.83
219005462012NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2.69
222039942012Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.58
121305032002NAD(P)H oxidase-dependent platelet superoxide anion release increases platelet recruitment.57
119297502002Creation of a genetic system for analysis of the phagocyte respiratory burst: high-level reconstitution of the NADPH oxidase in a nonhematopoietic system.45
151810052004Nox3 regulation by NOXO1, p47phox, and p67phox.44

Citation

Dessen P

NCF2 (neutrophil cytosolic factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46002/ncf2