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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]
NCF2 (Neutrophil Cytosolic Factor 2) is a Protein Coding gene. Diseases associated with NCF2 include Granulomatous Disease, Chronic, Autosomal Recessive, 2 and Chronic Granulomatous Disease. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and Rac GTPase binding. An important paralog of this gene is NOXA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 7938008 |
GO:0008022 | protein C-terminus binding | IPI | 9365277 |
GO:0009055 | electron transfer activity | TAS | 1692159 |
GO:0016175 | superoxide-generating NADPH oxidase activity | IGI | 8280052 |
GO:0016176 | superoxide-generating NADPH oxidase activator activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001669 | acrosomal vesicle | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IDA | 8280052 |
GO:0032010 | phagolysosome | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
GO:0006801 | superoxide metabolic process | TAS | 7938008 |
GO:0006909 | phagocytosis | IEA | -- |
GO:0006968 | cellular defense response | TAS | 1692159 |
GO:0022900 | electron transport chain | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NCF2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NCF2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NCF2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ncf2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ncf2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NCF2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NCF2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NCF2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ncf2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ncf2 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
837163 | Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 183,590,236(-) |
C/T NM_000433.4(NCF2):c.94G>A (p.Val32Ile) |
MISSENSE | |
843519 | Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 183,577,646(-) |
T/C NM_000433.4(NCF2):c.319A>G (p.Ile107Val) |
MISSENSE | |
844354 | Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 183,573,185(-) |
C/T NM_000433.4(NCF2):c.609G>A (p.Thr203=) |
SYNONYMOUS_VARIANT,INTRON | |
847320 | Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 183,590,266(-) |
A/G NM_000433.4(NCF2):c.64T>C (p.Trp22Arg) |
MISSENSE | |
848612 | Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 183,574,575(-) |
T/C NM_000433.4(NCF2):c.413A>G (p.Lys138Arg) |
MISSENSE_VARIANT,INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
granulomatous disease, chronic, autosomal recessive, 2 |
|
|
chronic granulomatous disease |
|
|
phagocyte bactericidal dysfunction |
|
|
granulomatous disease, chronic, x-linked |
|
|
retinitis pigmentosa 47 |
|
|