Gene: [0Xq131/IL2RG] interleukin 2 receptor, gamma (antigen CD132); severe combined immunodeficiency disease, X-linked (SCIDX1, SCIDX2); immunodeficiency 4 (thymic epithelial hypoplasia; MIM:300400); agammaglobulinemia, swiss type (MIM:300400); immunodeficiency 6 (combined immunodeficiency, X-linked; MIM:312863); [SCIDX1 ]


REL

GEM:10p1/IL2RA; GEM:22q13/IL2RB.

REF

MUT "Clark PA &: Hum Genet, 96, 427-432, 1995
ASS,MUT "Jones AM &: Hum Genet, 99, 677-680, 1997
FUN "Kondo M &: Science, 262, 1874-1877, 1993
FUN,PAT "Leonard WJ: Annu Rev Med, 47, 229-239, 1996
MUT "Noguchi M &: Cell, 73, 147-157, 1993a
CLO,LOC "Noguchi M &: JBC, 268, 13601-13608, 1993b
CLO,SEQ,STR "Noguchi M &: Science, 262, 1877-1880, 1993c
FUN "Ohbo K &: JBC, 270, 7479-7486, 1995
MUT "Pepper AE &: AJHG, 57, 564-571, 1995
MUT "Puck JM &: J Clin Invest, 95, 895-899, 1995
CLO,LOC "Puck JM &: AJHG, 53, 176-184, 1993a
CLO,LOC "Puck JM &: Hum Mol Genet, 2, 1099-1104, 1993b
CLO,LOC "Puck JM &: CCG, 58, 2082-2083, 1991
CLO,LOC "Puck JM &: New Engl J Med, 322, 1063-1066, 1990
CLO,SEQ "Puck JM &: AJHG, 44, 724-730, 1989a
CLO,SEQ "Puck JM &: CCG, 51, (HGM10), 1061, 1989b
FUN "Russell SM &: Science, 262, 1880-1883, 1993
MUT "Schmalstieg FC &: J Clin Invest, 95, 1169-1173, 1995
CLO,SEQ "Takeshita T &: Science, 257, 379-382, 1992

SWI

SWISSPROT: P31785

KEY

imm, recp, mem

CLA

coding, basic

LOC

0X q13.1

MIM

MIM: 308380

SYN

SCIDX1

鸯铗痂蝈 蜞赕:

  • Gene: [04q2/IL2] interleukin 2 (T-cell growth factor); [TCGF ]
  • Gene: [02q13/IL1A] interleukin 1, alpha (hematopoietin-1); rheumatoid arthritis, juvenile, association with; [IL1 ]
  • Gene: [05q31/IL4] interleukin 4 (B cell stimulatory factor-1); [BCGF1 BSF1 ]
  • Gene: [10p1/IL15RA] interleukin 15 receptor, alpha;
  • Gene: [04q31/IL15] interleukin 15;
  • HUGEN-疱鲥矧铕 鲨蝾觇眍恹 皴戾轳蜮