Gene: [19p133/TBXA2R] thromboxane A2 receptor; bleeding disorder (due to defective thromboxane A2 receptor);

EXP

Hirata-1996 cloned two isoforms of TBXA2R, alpha and beta, which differed only in their C-terminus. They found that the two isoforms oppositely regulated adenylyl cyclase activity: alpha activates adenylyl cyclase, while beta inhibits it."

HET

Duncan-1995 mapped TBXA2R to Chr 19p13.3 by in situ hybridization and noted two minor signals at Chr 12q24.4-.3 and Chr 15q25-26."

REF

CLO,SEQ "D'Angelo DD &: J Pharmacol Exp Ther, 271, 1034-1041, 1994
LOC,FAG,HET "Duncan AMV &: Genomics, 25, 740-742, 1995
PAT "Fuse I &: Blood, 81, 994-1000, 1993
SEQ,MUT "Hirata M &: J Clin Invest, 94, 1662-1667, 1994
CLO,SEQ "Hirata M &: Nature, 349, 617-620, 1991
HET,MUT "Hirata T &: J Clin Invest, 97, 949-956, 1996
CLO,SEQ,GEN,LOC "Nuesing RM &: JBC, 268, 25253-25259, 1993
CLO,SEQ "Raychowdhury MK &: JBC, 269, 19256-19261, 1994
LIN,LOC "Schwengel DA &: Genomics, 18, 212-215, 1993
IDN "Ushikubi F &: JBC, 264, 16496-16501, 1989
PAT "Ushikubi F &: Thromb Haemost, 57, 158-164, 1987

KEY

recp

CLA

coding, basic

LOC

19 p13.3

MIM

MIM: 188070

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