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Results for the Protein: P16885
215274231

PLCG2_HUMAN RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; AltName: Full=Phosphoinositide phospholipase C-gamma-2; AltName: Full=Phospholipase C-IV; Short=PLC-IV; AltName: Full=Phospholipase C-gamma-2; Short=PLC-gamma-2

Known Diseases associated with this Protein:
  AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION PLCG2-ASSOCIATED (APLAID)
  AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
2
8
1
4
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

PH_PLC_ELMO1 - cd01248
PH - smart00233
PH - pfam00169
PI-PLCc_delta1 - cd08629
PI-PLCc_beta3 - cd08625
PI-PLCc_gamma2 - cd08628
PI-PLCc_beta4 - cd08626
PI-PLCc_eta2 - cd08633
PI-PLCc_delta - cd08593
PI-PLCc_eta1 - cd08632
PI-PLCc_delta4 - cd08631
PI-PLCc_delta3 - cd08630
PI-PLCc_beta2 - cd08624
PI-PLCc_gamma - cd08592
PI-PLCc_beta - cd08591
PI-PLCc_eukaryota - cd08558
PI-PLCc - cd00137
PI-PLCc_eta - cd08594
PI-PLCc_PRIP_metazoa - cd08597
PI-PLCc_zeta - cd08595
PI-PLCc_plant - cd08599
PI-PLC1c_yeast - cd08598
PI-PLCc_beta1 - cd08623
PI-PLCc_epsilon - cd08596
PLCXc - smart00148
PI-PLCc_gamma1 - cd08627
PI-PLC-X - pfam00388
PI-PLCc_GDPD_SF - cd08555
SH2 - smart00252
SH2 - cd00173
SH2 - pfam00017
SH3 - smart00326
SH3 - cd00174
SH3_1 - pfam00018
PI-PLC-Y - pfam00387
PLCYc - smart00149
C2_PLC_like - cd00275
C2 - smart00239
C2 - cd00030
C2 - pfam00168


Swiss-Prot Protein: P16885
Identical to: NP_002652
   Default View:




























Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PI-PLCccd001376.5e-30311541
PI-PLCc_eukaryotacd085581.6e-2793111031
PI-PLCc_betacd085911.1e-293111031
PI-PLCc_gammacd085923111031
PI-PLCc_etacd085941.8e-32311691
PI-PLCc_PRIP_metazoacd085971.2e-46311536
PI-PLCc_epsiloncd085962.2e-18311644
PI-PLC1c_yeastcd085981.5e-45311584
PI-PLCc_plantcd085992.8e-21311604
PI-PLCc_zetacd085959.8e-43311604
PI-PLCc_beta1cd086233.8e-18311672
PI-PLCc_beta2cd086241.3e-32311630
PI-PLCc_beta3cd086255.7e-24311693
PI-PLCc_beta4cd086262.8e-193111031
PI-PLCc_delta1cd086291e-60311604
PI-PLCc_gamma2cd086283111031
PI-PLCc_delta3cd086301.7e-45311564
PI-PLCc_delta4cd086312.4e-53311609
PI-PLCc_eta2cd086331e-20311709
PI-PLCc_eta1cd086322.3e-33311736
PI-PLCc_deltacd085937.7e-50311630
PI-PLCc_gamma1cd086272.8e-2853121031
PI-PLCc_GDPD_SFcd085551.6e-18324564
SH2cd001733.5e-33531635
SH2cd001733.5e-32645735
PI-PLCc_delta4cd086311.5e-067101031
PI-PLCc_delta1cd086293.7e-077431031
SH3cd001744.5e-18773826
C2_PLC_likecd002751e-5510601187
C2cd000304e-1310631177
PHpfam001690.00122131
PI-PLC-Xpfam003881.5e-95314457
SH2pfam000175.4e-43532617
SH2pfam000175e-30646720
SH3_1pfam000186.1e-17775821
PI-PLC-Ypfam003872.8e-669291044
C2pfam001685e-2110631152
PHsmart002335.7e-0622131
PLCXcsmart001484.8e-91312446
SH2smart002522.2e-36530623
SH2smart002529.6e-28644726
SH3smart003261.9e-19770827
PLCYcsmart001496.7e-659311043
C2smart002394.4e-2610621167

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1071644 Polymorphismp.ARG1031SERN/A
Swiss-ProtVAR_031561Polymorphismp.ARG268TRPN/A
Swiss-ProtVAR_047428Polymorphismp.ASP883TYRN/A
Swiss-ProtVAR_031560Polymorphismp.HIS244ARGN/A
dbSNPrs115583707 Polymorphismp.PHE838LEUN/A
Swiss-ProtVAR_069211Diseasep.SER707TYRAutoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID)
Swiss-ProtVAR_047427Polymorphismp.THR541ALAN/A
dbSNPrs4586425 rs1143685 Polymorphismp.TRP58CYSN/A
dbSNPrs17537869 rs1143687 Polymorphismp.VAL268LEUN/A
OMIM600220.0004 Diseasep.SER707TYRAUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED



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