CY24B_HUMAN
Source:
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
CYBB
, NOX2
Protein names and data:
CY24B_HUMAN
, Cytochrome b-245 heavy chain; 1.-.-.-
, CGD91-phox; Cytochrome b(558) subunit beta; Cytochrome b558 subunit beta; Heme-binding membrane glycoprotein gp91phox; NADPH oxidase 2; Neutrophil cytochrome b 91 kDa polypeptide; Superoxide-generating NADPH oxidase heavy chain subunit; gp91-1; gp91-phox; p22 phagocyte B-cytochrome
Lenght: 570 a.a.
Mass: 65336 Da
fasta formatted sequence
Function:
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.
Disease:
( OMIM:
300481
300645
306400
)
Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Note=The disease is caused by mutations affecting the gene represented in this entry. Mycobacteriosis atypical X-linked 2 (AMCBX2) [MIM:300645]: A rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non- tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Cellular location:
Cell membrane; Multi-pass membrane protein.
Tissue specificity:
Detected in neutrophils (at protein level).
Genetic variants
18 - 18
W -> C (in CGD). VAR_047264
20 - 20
G -> R (in CGD; dbSNP:rs151344455). VAR_007873
151344455
41 - 41
Y -> D (in CGD; dbSNP:rs151344453). VAR_025613
151344453
54 - 55
Missing (in CGD). VAR_047265
54 - 54
R -> M (in CGD; dbSNP:rs151344479). VAR_025614
151344479
54 - 54
R -> S (in CGD; dbSNP:rs151344456). VAR_007874
151344456
55 - 55
A -> D (in CGD; dbSNP:rs151344480). VAR_025615
151344480
57 - 57
A -> E (in CGD; dbSNP:rs151344481). VAR_008845
151344481
59 - 59
C -> R (in CGD; dbSNP:rs151344457). VAR_007875
151344457
59 - 59
C -> W (in CGD; dbSNP:rs151344488). VAR_047266
151344488
101 - 101
H -> R (in CGD; dbSNP:rs137854591). VAR_002432
137854591
101 - 101
H -> Y (in CGD; dbSNP:rs137854594). VAR_007876
137854594
119 - 119
H -> R (in CGD; dbSNP:rs151344458). VAR_007877
151344458
156 - 156
A -> T (in CGD; dbSNP:rs137854590). VAR_002433
137854590
178 - 178
T -> P (in AMCBX2; dbSNP:rs151344497). VAR_065365
151344497
179 - 179
G -> R (in CGD; dbSNP:rs151344491). VAR_047267
151344491
193 - 193
S -> F (in CGD; dbSNP:rs151344493). VAR_047268
151344493
205 - 205
F -> I (in CGD; dbSNP:rs151344496). VAR_047269
151344496
209 - 209
H -> Q (in CGD; dbSNP:rs151344459). VAR_007878
151344459
209 - 209
H -> R (in CGD; dbSNP:rs151344482). VAR_025616
151344482
209 - 209
H -> Y (in CGD; dbSNP:rs137854587). VAR_002434
137854587
215 - 215
Missing (in CGD). VAR_007879
222 - 222
H -> N (in CGD; dbSNP:rs151344460). VAR_007880
151344460
222 - 222
H -> R (in CGD; dbSNP:rs151344462). VAR_007881
151344462
222 - 222
H -> Y (in CGD; dbSNP:rs151344460). VAR_007882
151344460
223 - 223
G -> L (in CGD; requires 2 nucleotide substitutions; dbSNP:rs151344463 and dbSNP:rs151344464). VAR_007883
151344463 and dbSNP:rs151344464
224 - 224
A -> G (in CGD; dbSNP:rs151344483). VAR_025617
151344483
225 - 225
E -> V (in CGD; dbSNP:rs151344494). VAR_002435
151344494
231 - 231
Q -> P (in AMCBX2; dbSNP:rs151344498). VAR_065366
151344498
244 - 244
C -> R (in CGD; dbSNP:rs151344465). VAR_007884
151344465
244 - 244
C -> S (in CGD; dbSNP:rs137854589). VAR_002436
137854589
244 - 244
C -> Y (in CGD; dbSNP:rs137854589). VAR_002437
137854589
298 - 302
Missing (in CGD). VAR_047270
303 - 303
H -> N (in CGD; completely inhibits NADPH oxidase activity; NADPH oxidase assembly is abolished; dbSNP:rs137854595). VAR_016880
137854595
304 - 304
P -> R (in CGD; reduces NADPH oxidase activity to 4% of wild-type; translocation to the membrane of the phagosome is only attenuated; dbSNP:rs137854596). VAR_016881
137854596
307 - 307
T -> P (in CGD; dbSNP:rs151344489). VAR_047271
151344489
309 - 309
E -> K (in CGD; dbSNP:rs151344466). VAR_007885
151344466
315 - 315
Missing (in CGD). VAR_047272
322 - 322
G -> E (in CGD; dbSNP:rs151344467). VAR_007886
151344467
325 - 325
I -> F (in CGD; dbSNP:rs151344468). VAR_007887
151344468
333 - 333
S -> P (in CGD; dbSNP:rs151344469). VAR_007888
151344469
338 - 338
H -> Y (in CGD; dbSNP:rs151344484). VAR_025618
151344484
339 - 339
P -> H (in CGD; dbSNP:rs151344470). VAR_002438
151344470
342 - 342
L -> Q (in CGD; dbSNP:rs151344495). VAR_047273
151344495
344 - 344
S -> F (in CGD; dbSNP:rs151344485). VAR_025619
151344485
356 - 356
R -> P (in CGD; dbSNP:rs151344471). VAR_007889
151344471
364 - 364
G -> R (in dbSNP:rs141756032). VAR_025620
141756032
389 - 389
G -> A (in CGD; dbSNP:rs137854586). VAR_002439
137854586
389 - 389
G -> E (in CGD; dbSNP:rs137854586). VAR_025621
137854586
405 - 405
M -> R (in CGD; dbSNP:rs151344472). VAR_007890
151344472
408 - 408
G -> E (in CGD; dbSNP:rs151344474). VAR_007891
151344474
408 - 408
G -> R (in CGD; dbSNP:rs151344473). VAR_007892
151344473
415 - 415
P -> H (in CGD; dbSNP:rs137854585). VAR_002440
137854585
415 - 415
P -> L (in CGD; dbSNP:rs137854585). VAR_007893
137854585
420 - 420
L -> P (in CGD; dbSNP:rs151344486). VAR_025622
151344486
422 - 422
S -> P (in CGD; dbSNP:rs151344475). VAR_007894
151344475
453 - 453
W -> R (in CGD; dbSNP:rs151344476). VAR_007895
151344476
472 - 472
G -> S (in dbSNP:rs13306300). VAR_047274
13306300
488 - 488
A -> D (in CGD). VAR_068012
500 - 500
D -> E (in CGD). VAR_068013
500 - 500
D -> G (in CGD; dbSNP:rs137854593). VAR_002441
137854593
505 - 505
L -> R (in CGD; dbSNP:rs151344490). VAR_047275
151344490
516 - 516
W -> C (in CGD; dbSNP:rs151344477). VAR_007896
151344477
516 - 516
W -> R (in CGD; dbSNP:rs151344487). VAR_025623
151344487
517 - 517
D -> E (in dbSNP:rs151344452). VAR_025624
151344452
534 - 534
V -> D (in CGD; dbSNP:rs151344478). VAR_007897
151344478
537 - 537
C -> R (in CGD; dbSNP:rs151344454). VAR_007898
151344454
546 - 546
L -> P (in CGD; dbSNP:rs151344492). VAR_047276
151344492
Database cross-references
UniProt:
P04839
Ensembl:
ENST00000378588
Ensembl:
ENST00000596392
MIM:
300481
MIM:
300645
MIM:
306400
neXtProt:
NX_P04839
Antibodypedia:
P04839
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.