NCF2
entrez
4688
canonical
uniprot
P19878
canonical
ensembl
ENSG00000116701
resolver
ensp
ENSP00000356505
resolver
ensp
ENSP00000356506
resolver
ensp
ENSP00000399294
resolver
ensp
ENSP00000407217
resolver
ensp
ENSP00000513276
resolver
ensp
ENSP00000543276
resolver
ensp
ENSP00000616348
resolver
enst
ENST00000697351
resolver
enst
ENST00000873217
resolver
genesymbol
NCF2
resolver
genesymbol_syn
NOXA2
resolver
genesymbol_syn
P67PHOX
resolver
hgnc
HGNC:7661
resolver
uniprot
A0A0S2Z457
resolver
uniprot
A0A8V8TMB9
resolver
uniprot
B2R6Q1
resolver
uniprot
B4DKQ7
resolver
uniprot
B4DQA7
resolver
uniprot
E9PHJ2
resolver
uniprot
E9PHX3
resolver
uniprot
Q2PP06
resolver
uniprot
Q8NFC7
resolver
uniprot
Q9BV51
resolver
uniprot_entry
A0A0S2Z457_HUMAN
resolver
uniprot_entry
A0A8V8TMB9_HUMAN
resolver
uniprot_entry
NCF2_HUMAN
resolver
uniprot_sec
B2R6Q1
resolver
uniprot_sec
B4DKQ7
resolver
uniprot_sec
B4DQA7
resolver
uniprot_sec
E9PHJ2
resolver
uniprot_sec
E9PHX3
resolver
uniprot_sec
Q2PP06
resolver
uniprot_sec
Q8NFC7
resolver
uniprot_sec
Q9BV51
resolver
amino_acid_sequence
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGMLYYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFACEVLYNIAFMYAKKEEWKKAEEQLALATSMKSEPRHSKIDKAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRALEGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQEGDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV
uniprot
proteins
disease_involvement
DISEASE: Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710]: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269|PubMed:10498624, ECO:0000269|PubMed:10598813, ECO:0000269|PubMed:11112388, ECO:0000269|PubMed:16937026, ECO:0000269|PubMed:18625437, ECO:0000269|PubMed:19624736, ECO:0000269|PubMed:20167518, ECO:0000269|PubMed:23910690, ECO:0000269|PubMed:8286749, ECO:0000269|PubMed:9070911}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:12207919, PubMed:38355798). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction (PubMed:38355798). Activation of the NADPH oxidase complex is initiated by the assembly of cytosolic subunits of the NADPH oxidase complex with the core NADPH oxidase complex to form a complex at the plasma membrane or phagosomal membrane (PubMed:38355798). This activation process is initiated by phosphorylation dependent binding of the cytosolic NCF1/p47-phox subunit to the C-terminus of CYBA/p22-phox (By similarity). {ECO:0000250|UniProtKB:P14598, ECO:0000269|PubMed:12207919, ECO:0000269|PubMed:38355798}.
uniprot
proteins
mass_dalton
59762
uniprot
proteins
protein_family
NCF2/NOXA1 family
uniprot
proteins
pubmed
10498624
uniprot
proteins
pubmed
10598813
uniprot
proteins
pubmed
11090627
uniprot
proteins
pubmed
11112388
uniprot
proteins
pubmed
11278853
uniprot
proteins
pubmed
12169629
uniprot
proteins
pubmed
12207919
uniprot
proteins
pubmed
12716910
uniprot
proteins
pubmed
12887891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15642721
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
1692159
uniprot
proteins
pubmed
16937026
uniprot
proteins
pubmed
17290225
uniprot
proteins
pubmed
18625437
uniprot
proteins
pubmed
19624736
uniprot
proteins
pubmed
20167518
uniprot
proteins
pubmed
23910690
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
38355798
uniprot
proteins
pubmed
7903171
uniprot
proteins
pubmed
8280052
uniprot
proteins
pubmed
8286749
uniprot
proteins
pubmed
9070911
uniprot
proteins
sequence_length
526
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
uniprot
proteins