IL2RG_HUMAN
Source:
BD_CD
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
IL2RG
Protein names and data:
IL2RG_HUMAN
, Cytokine receptor common subunit gamma
, Interleukin-2 receptor subunit gamma; IL-2 receptor subunit gamma; IL-2R subunit gamma; IL-2RG; gammaC; p64; CD132; Flags: Precursor
Lenght: 369 a.a.
Mass: 42287 Da
fasta formatted sequence
Function:
Common subunit for the receptors for a variety of interleukins.
Disease:
( OMIM:
300400
308380
312863
)
Severe combined immunodeficiency X-linked T-cell- negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Note=The disease is caused by mutations affecting the gene represented in this entry. X-linked combined immunodeficiency (XCID) [MIM:312863]: Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Single-pass type I membrane protein.
Genetic variants
39 - 39
D -> N (in XSCID). VAR_002668
44 - 44
T -> S (in dbSNP:rs7885041). VAR_059301
7885041
62 - 62
C -> G (in XSCID). VAR_002669
68 - 68
E -> G (in XSCID). VAR_002670
68 - 68
E -> K (in XSCID). VAR_002671
84 - 84
N -> K (in XSCID). VAR_002672
89 - 89
Y -> C (in XSCID). VAR_002673
105 - 105
Y -> C (in XSCID). VAR_002674
109 - 109
E -> K (in dbSNP:rs17875899). VAR_020611
17875899
114 - 114
G -> D (in XSCID). VAR_002675
115 - 115
C -> F (in XSCID). VAR_002676
115 - 115
C -> R (in XSCID; atypical). VAR_002677
123 - 123
H -> P (in XSCID). VAR_002678
125 - 125
Y -> N (in XSCID). VAR_002679
144 - 144
Q -> P (in XSCID). VAR_002680
153 - 153
I -> N (in XSCID). VAR_002681
156 - 156
A -> V (in XSCID). VAR_002682
162 - 162
L -> H (in XSCID). VAR_002683
172 - 172
L -> P (in XSCID). VAR_002684
172 - 172
L -> Q (in XSCID). VAR_002685
182 - 182
C -> R (in XSCID). VAR_002686
183 - 183
L -> S (in XSCID). VAR_002687
222 - 222
R -> C (in XCID). VAR_002688
224 - 224
R -> W (in XSCID). VAR_002689
226 - 226
R -> C (in XSCID). VAR_002690
226 - 226
R -> H (in XSCID). VAR_002691
227 - 227
F -> C (in XSCID). VAR_002692
230 - 230
L -> P (in XSCID). VAR_002693
231 - 231
C -> Y (in XSCID). VAR_002694
232 - 232
G -> R (in XSCID). VAR_002695
237 - 237
W -> WQHW (in XSCID). VAR_002696
240 - 240
W -> C (in XSCID). VAR_002697
241 - 241
S -> I (in XSCID). VAR_002698
270 - 270
M -> R (in XSCID). VAR_002699
285 - 285
R -> Q (in XSCID). VAR_002701
293 - 293
L -> Q (in XCID). VAR_002702
Database cross-references
UniProt:
P31785
Ensembl:
ENST00000374202
Ensembl:
ENST00000456850
MIM:
300400
MIM:
308380
MIM:
312863
neXtProt:
NX_P31785
Antibodypedia:
P31785
(may not find the protein thus also not any antibody)
Local full text data:
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