NCF4 (neutrophil cytosolic factor 4)

2011-08-01 Affiliation

Identity

HGNC

NCF4

LOCATION

22q12.3

LOCUSID

4689

ALIAS

CGD3,NCF,P40PHOX,SH3PXD4

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4689
MIM: 601488
HGNC: 7662
Ensembl: ENSG00000100365

Variants:

dbSNP: 4689
ClinVar: 4689
TCGA: ENSG00000100365
COSMIC: NCF4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100365	ENST00000248899	Q15080
ENSG00000100365	ENST00000397147	Q15080
ENSG00000100365	ENST00000447071	B0QY04
ENSG00000100365	ENST00000650698	A0A494BZS1
ENSG00000100365	ENST00000650827	A0A494BZS1

Expression (GTEx)

100

200

300

400

500

600

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

Pathway	Source	External ID
Leukocyte transendothelial migration	KEGG	ko04670
Leukocyte transendothelial migration	KEGG	hsa04670
Leishmaniasis	KEGG	ko05140
Leishmaniasis	KEGG	hsa05140
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Osteoclast differentiation	KEGG	ko04380
Osteoclast differentiation	KEGG	hsa04380
ROS, RNS production in phagocytes	REACTOME	R-HSA-1222556
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen processing-Cross presentation	REACTOME	R-HSA-1236975
Cross-presentation of particulate exogenous antigens (phagosomes)	REACTOME	R-HSA-1236973
Innate Immune System	REACTOME	R-HSA-168249
Signal Transduction	REACTOME	R-HSA-162582
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
Signaling by Rho GTPases	REACTOME	R-HSA-194315
RHO GTPase Effectors	REACTOME	R-HSA-195258
RHO GTPases Activate NADPH Oxidases	REACTOME	R-HSA-5668599
Cellular responses to stress	REACTOME	R-HSA-2262752
Detoxification of Reactive Oxygen Species	REACTOME	R-HSA-3299685

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA444760	Leukemia, Myeloid, Acute	Disease	ClinicalAnnotation	associated	PD	28485375
PA445062	Neoplasms	Disease	ClinicalAnnotation	associated	PD	16330681, 19448608, 26799497, 28485375, 28763429
PA446108	Colorectal Neoplasms	Disease	VariantAnnotation	not associated	PD
PA448497	aspirin	Chemical	VariantAnnotation	not associated	PD
PA449412	doxorubicin	Chemical	ClinicalAnnotation, Pathway	associated	PD	16330681, 19448608, 21048526, 26799497, 28485375, 28763429
PA449961	idarubicin	Chemical	ClinicalAnnotation	associated	PD	16330681, 19448608, 26799497, 28485375, 28763429

References

Pubmed ID	Year	Title	Citations
19692703	2009	A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.	123
11893732	2002	Intracellular localization and preassembly of the NADPH oxidase complex in cultured endothelial cells.	96
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
12556460	2003	Membrane binding mechanisms of the PX domains of NADPH oxidase p40phox and p47phox.	59
16880255	2006	The phosphoinositide-binding protein p40phox activates the NADPH oxidase during FcgammaIIA receptor-induced phagocytosis.	57
18580884	2008	Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.	54
18580884	2008	Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.	54
11796733	2002	Architecture of the p40-p47-p67phox complex in the resting state of the NADPH oxidase. A central role for p67phox.	40
20167518	2010	Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).	40
18711001	2008	Fc gamma R-stimulated activation of the NADPH oxidase: phosphoinositide-binding protein p40phox regulates NADPH oxidase activity after enzyme assembly on the phagosome.	35

Citation

Dessen P

NCF4 (neutrophil cytosolic factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52301/ncf4