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FLASH GENE

Symbol

NCF2

contributors: mct/npt/pgu - updated : 29-05-2010

HGNC name	neutrophil cytosolic factor 2
HGNC id	7661

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	presence of four NCF2 5'-UTR mRNA variants (designated as NCF2 exon 1, intron 1a, intron 1b and intron 1c)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000433 15 - 2429 NP_000424 - 526 - 2007 17712795 NM_001127651 16 - 2256 NP_001121123 - 526 - 2007 17712795

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel       moderately Digestive intestine large intestine colon   moderately Lymphoid/Immune lymph node       moderately Reproductive female system placenta     highly   female system breast mammary gland   moderately Respiratory lung       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic neutrophil

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES		acid
STRUCTURE

motifs/domains	three tetratricopeptide repeats within its N-terminal Racl GTP binding region
	a PB1 domain
	two SH3 domains
	acidic middle and C-terminal domains that are similar to a sequence motif found in the noncatalytic domain of src-related tyrosine kinases

HOMOLOGY

interspecies	ortholog to murine Ncf2
	ortholog to rattus Ncf2_predicted

Homologene

FAMILY

NCF2/NOXA1 family

CATEGORY

enzyme , immunity/defense

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	translocated to the plasma membrane after activation

basic FUNCTION	p67-phox, oxygen dependent mechanism of phagocytosis
	reduction of oxygen to O-2 at the expense of NADPH, the O2-generated is the precursor of potent oxidants used to kill the invading microorganisms
	being a membrane bound cytochrome b558 required for activation of the latent NADPH oxidase
	essential component of the multi-protein NADPH oxidase enzyme in phagocytic leukocytes, as well as in certain non-phagocytic cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

inflammation , electron transport

PATHWAY

metabolism

other

signaling

superoxide metabolism

a component	component of NADPH oxidase system cypb245
	forming a cytosolic precomplex with NCF1 and NCF4
	component of an intracellular complex made of CYBB, CYBA, NCF2, NCF4 in unstimulated endothelial cells

INTERACTION

DNA

RNA

small molecule

protein	interacting directly with cytochrome b58 (CYBB)
	SYTL1
	RAC1
	interacting with PLAGL2
	NCF2 binding to VAV1 involves their respective PB1 and ZF domains

cell & other

REGULATION

activated by

binding to CYBB activated by RAC1

Other	regulated through mechanisms that include modulation of transcription and translation
	regulated by PLAGL2, but overexpression of PLAGL2 alone was not sufficient to activate an NCF2 promoter-reporter plasmid, suggesting the requirement for other factors

ASSOCIATED DISORDERS

corresponding disease(s)

GDCC2

related resource

NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox

Susceptibility

to systemic lupus erythematosus (SLE)

Variant & Polymorphism SNP	a single nonsynonymous coding mutation in exon 12, the effect of which is the substitution of histidine-389 with glutamine (H389Q) in the PB1 domain of the NCF2 protein, associated with SLE

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS