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Results for the Protein: NP_001124388
195963412

TGF-beta receptor type-1 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  LOEYS-DIETZ SYNDROME, TYPE 1A
  LOEYS-DIETZ SYNDROME, TYPE 2A
  LOEYS-DIETZ SYNDROME, TYPE 2A, INCLUDED
  MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
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Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

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



Default View:

Activin_recp - pfam01064
PTKc_EGFR_like - cd05057
STKc_myosinIIIB - cd06639
STKc_PAK_II - cd06648
PTKc_FGFR1 - cd05098
STKc_myosinIIIA - cd06638
STKc_MAP4K4_6 - cd06636
STKc_CDK9 - cd07865
PTKc_FGFR2 - cd05101
STKc_PAK - cd06614
PTKc_FGFR - cd05053
PTKc_Tie2 - cd05088
PTKc_FGFR4 - cd05099
PTK_Ryk - cd05043
STKc_TAO2 - cd06634
STKc_MAP4K5 - cd06646
STKc_BUR1 - cd07866
PTKc_Trk - cd05049
PTK_CCK4 - cd05046
STKc_MAP4K3 - cd06645
PTKc_TrkA - cd05092
STKc_CDK12 - cd07864
STKc_TNIK - cd06637
PTKc_HER2 - cd05109
PTKc_Ror2 - cd05091
PTKc_EphR_A2 - cd05063
PTKc_Ror1 - cd05090
PTKc_ALK_LTK - cd05036
PTKc_Ror - cd05048
PTKc_FAK - cd05056
PTKc_Hck - cd05073
PTKc_Src - cd05071
PTKc_TrkB - cd05093
PTKc_Lyn - cd05072
STKc_CDK10 - cd07845
PTKc_Fyn_Yrk - cd05070
STKc_PCTAIRE_like - cd07844
PTKc_Itk - cd05112
PTKc_Yes - cd05069
PTKc_DDR - cd05051
PTKc_Jak_rpt2 - cd05038
PTKc_EphR - cd05033
PTKc_Abl - cd05052
PTKc_InsR - cd05061
PTKc_Frk_like - cd05068
PTKc_Lck_Blk - cd05067
PTKc_IGF-1R - cd05062
STKc_ASK - cd06624
STKc_MAP4K3_like - cd06613
PTKc_Src_like - cd05034
PTKc_InsR_like - cd05032
PTKc_EphR_B - cd05065
STKc_MST4 - cd06640
PKc_MKK4 - cd06616
PTKc_Tec_Rlk - cd05114
STKc_MST3 - cd06641
STKc_Nek6 - cd08228
STKc_Nek7 - cd08229
PTKc_Btk_Bmx - cd05113
STKc_Nek6_Nek7 - cd08224
STKc_STK25-YSK1 - cd06642
PTKc_Csk - cd05082
PTK_HER3 - cd05111
PTKc_EphR_A10 - cd05064
PTKc_Tec_like - cd05059
PTKc_Csk_like - cd05039
PTKc_Jak1_rpt2 - cd05079
PTKc_EphR_A - cd05066
PTKc_Jak2_Jak3_rpt2 - cd05081
PTKc_DDR_like - cd05097
PTKc_DDR2 - cd05095
STKc_CDKL1_4 - cd07847
PKc_MAPKK_plant_like - cd06623
STKc_Nek3 - cd08219
PKc_MKK3_6 - cd06617
STKc_CDK4 - cd07863
STKc_PDK1 - cd05581
PTKc_Musk - cd05050
PTKc_Tyk2_rpt2 - cd05080
STKc_MST3_like - cd06609
PTKc_Chk - cd05083
PKc_MAPKK - cd06605
STKc_CDK7 - cd07841
STKc_CDK8_like - cd07842
STKc_Nek4 - cd08223
STKc_CCRK - cd07832
STKc_Pho85 - cd07836
STKc_CDK1_euk - cd07861
STKc_GRK4_like - cd05605
STKc_MAPKKK_Bck1_lik - cd06629
PTKc_RET - cd05045
STKc_MAPKKK - cd06606
STKc_MAPKKK_Byr2_lik - cd06628
STKc_Cdc7_like - cd06627
Pkinase - pfam00069
TyrKc - smart00219
STYKc - smart00221
PTKc_Tyro3 - cd05074
PTKc_Axl_like - cd05035
Pkinase_Tyr - pfam07714
STKc_CDK1_like - cd07835
STKc_CDK9_like - cd07840
STKc_FA2-like - cd08529
STKc_Nek - cd08215
STKc_CNK2-like - cd08530
STKc_CDKL - cd07833
PKc_STE - cd05122
STKc_myosinIII_like - cd06608
STKc_MST1_2 - cd06612
STKc_Yank1 - cd05578
PTKc_Srm_Brk - cd05148
STKc_OSR1_SPAK - cd06610
STKc_CRIK - cd05601
STKc_CDK_like - cd07829
PTKc_Aatyk2 - cd05086
PTKc_Aatyk - cd05042
STKc_MEKK4 - cd06626
STKc_CdkB_plant - cd07837
STKc_NAK1_like - cd06917
STKc_CDK5 - cd07839
STKc_MEKK1_plant - cd06632
STKc_Nek2 - cd08217
STKc_CDKL2_3 - cd07846
PTKc - cd00192
PTKc_c-ros - cd05044
PTKc_Tie - cd05047
STKc_YSK4 - cd06631
PTKc_Met_Ron - cd05058
PTKc_Fes_like - cd05041
PTKc_Ack_like - cd05040
PTKc_Aatyk1_Aatyk3 - cd05087
STKc_CMGC - cd05118
PTKc_Fes - cd05084
PTKc_Fer - cd05085
PTKc_Syk_like - cd05060
PTKc_Zap-70 - cd05115
STKc_Nek9 - cd08221
STKc_MEKK3_like - cd06625
STKc_Nek8 - cd08220
STKc_beta_ARK - cd05606
STKc_AGC - cd05123
PKc - cd00180
STKc_GRK - cd05577
STKc_MAST_like - cd05579
STKc_GRK7 - cd05607
STKc_GRK1 - cd05608
STKc_GRK3 - cd05633
S_TKc - smart00220




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
STKc_myosinIIIBcd066394.4e-05108412
PTKc_FGFR1cd050983.3e-05110422
STKc_PAK_IIcd066480.00053110424
STKc_myosinIIIAcd066381.3e-05111424
STKc_MAP4K4_6cd066368e-05112393
STKc_CDK9cd078656.2e-07112399
PTKc_FGFR2cd051010.00013113423
STKc_PAKcd066142e-10113406
PTKc_FGFRcd050534.7e-06116420
PTKc_Tie2cd050880.00015116420
PTKc_FGFR4cd050992.7e-05116421
PTK_Rykcd050430.00067118387
STKc_TAO2cd066340.00056118421
PTK_CCK4cd050460.00046119417
PTKc_Trkcd050492.2e-09119417
STKc_MAP4K3cd066450.00034119416
STKc_MAP4K5cd066461.8e-05119411
STKc_BUR1cd078660.00036119413
PTKc_TrkAcd050924.7e-05120408
PTKc_HER2cd051090.00091121425
STKc_TNIKcd066372.2e-05121399
STKc_CDK12cd078641.4e-05121414
PTKc_ALK_LTKcd050363.5e-07122417
PTKc_Rorcd050486.2e-07122418
PTKc_FAKcd050562.9e-07122423
PTKc_EphR_A2cd050635.1e-05122419
PTKc_Ror1cd050900.00082122418
PTKc_Ror2cd050910.00053122418
PTKc_EphRcd050333.5e-09123419
PTKc_Jak_rpt2cd050384.1e-06123419
PTKc_DDRcd050510.00091123417
PTKc_Ablcd050523.9e-07123419
PTKc_InsRcd050610.00018123425
PTKc_IGF-1Rcd050625.3e-05123417
PTKc_Lck_Blkcd050675.4e-06123418
PTKc_Frk_likecd050683e-13123418
PTKc_Yescd050692.4e-06123418
PTKc_Fyn_Yrkcd050702.3e-05123418
PTKc_Srccd050711.6e-05123420
PTKc_Lyncd050727.5e-06123418
PTKc_Hckcd050737.5e-06123418
PTKc_TrkBcd050938.7e-05123426
PTKc_Itkcd051121.2e-06123416
STKc_CDK10cd078452.8e-05123422
STKc_PCTAIRE_likecd078440.0004123426
PTKc_InsR_likecd050321.2e-07124417
PTKc_Src_likecd050346.1e-10124418
PTKc_EphR_Bcd050651e-05124391
STKc_MAP4K3_likecd066134e-08124413
STKc_ASKcd066240.00071124417
PTKc_Csk_likecd050393.8e-09125421
PTKc_Tec_likecd050591.6e-07125419
PTKc_EphR_A10cd050640.00026125419
PTKc_EphR_Acd050667.3e-05125391
PTKc_Jak1_rpt2cd050798.7e-05125419
PTKc_Jak2_Jak3_rpt2cd050811.8e-05125419
PTKc_Cskcd050823.9e-08125418
PTKc_DDR2cd050954.5e-05125417
PTKc_DDR_likecd050970.00055125417
PTK_HER3cd051110.00029125425
PTKc_Btk_Bmxcd051133.7e-08125416
PTKc_Tec_Rlkcd051143.5e-05125416
PKc_MKK4cd066160.00089125368
STKc_MST4cd066400.00025125410
STKc_MST3cd066416.8e-05125415
STKc_STK25-YSK1cd066422.3e-05125415
STKc_Nek6_Nek7cd082241.6e-06125396
STKc_Nek6cd082280.00095125389
STKc_Nek7cd082298.3e-06125396
PTKc_Muskcd050504.3e-06126417
PTKc_Tyk2_rpt2cd050806.6e-06126420
PTKc_Chkcd050836.1e-07126418
STKc_PDK1cd055812.1e-07126399
PKc_MAPKKcd066051.4e-05126383
STKc_MST3_likecd066091.2e-05126382
PKc_MKK3_6cd066170.00014126395
PKc_MAPKK_plant_likecd066231.4e-05126416
STKc_CDKL1_4cd078471.8e-05126417
STKc_CDK4cd078630.00079126417
STKc_Nek3cd082190.00097126393
PTKc_RETcd050450.00041127422
STKc_GRK4_likecd056050.00096127419
STKc_MAPKKKcd066067e-14127399
STKc_Cdc7_likecd066272.2e-09127393
STKc_MAPKKK_Byr2_likcd066285.3e-05127412
STKc_MAPKKK_Bck1_likcd066291.7e-05127408
STKc_CCRKcd078324.6e-09127393
STKc_CDK7cd078412.4e-05127419
STKc_CDK8_likecd078420.0005127399
STKc_Pho85cd078360.00062127426
STKc_CDK1_eukcd078610.00081127426
STKc_Nek4cd082230.00072127393
PTKc_Axl_likecd050355.6e-05128419
PTKc_Tyro3cd050745.6e-05128419
STKc_CDK1_likecd078350.00035128426
STKc_CDK9_likecd078400.00068129348
STKc_Nekcd082159.1e-07129352
STKc_FA2-likecd085299.4e-05129361
PKc_STEcd051221.9e-11130408
PTKc_Srm_Brkcd051481.6e-09130418
STKc_Yank1cd055785e-06130393
STKc_CRIKcd056010.00032130424
STKc_myosinIII_likecd066084.6e-07130377
STKc_OSR1_SPAKcd066104.7e-06130414
STKc_MST1_2cd066121.7e-08130377
STKc_CDKLcd078336.9e-05130409
STKc_CNK2-likecd085300.00013130386
PTKc_Aatykcd050422.9e-06131417
PTKc_Aatyk2cd050860.00053131417
STKc_MEKK4cd066264.2e-07131367
STKc_CDK_likecd078292.5e-07131411
PTKccd001922.2e-11132416
PTKc_Ack_likecd050407.9e-08132417
PTKc_Fes_likecd050411.7e-08132417
PTKc_c-roscd050444.2e-05132417
PTKc_Tiecd050470.00022132420
PTKc_Met_Roncd050580.00017132421
PTKc_Syk_likecd050601.8e-07132420
PTKc_Fescd050843.6e-05132417
PTKc_Fercd050851e-05132417
PTKc_Aatyk1_Aatyk3cd050870.00019132417
STKc_CMGCcd051181.7e-08132409
STKc_YSK4cd066310.00026132367
STKc_MEKK1_plantcd066322.4e-06132367
STKc_NAK1_likecd069176e-05132419
STKc_CdkB_plantcd078374.1e-07132417
STKc_CDK5cd078390.00039132416
STKc_CDKL2_3cd078469.1e-05132424
STKc_Nek2cd082170.00018132390
PTKc_Zap-70cd051150.0001133420
PKccd001801.6e-57134415
STKc_AGCcd051239.6e-06134399
STKc_GRKcd055777e-05134379
STKc_MAST_likecd055790.00097134398
STKc_beta_ARKcd056068.4e-05134413
STKc_GRK1cd056085.6e-05134413
STKc_GRK7cd056070.00019134401
STKc_GRK3cd056330.00077134421
STKc_MEKK3_likecd066253.4e-06134392
STKc_Nek9cd082219.8e-05134392
STKc_Nek8cd082200.00051134395
Activin_recppfam010643.3e-2334114
Pkinasepfam000695.3e-66128415
Pkinase_Tyrpfam077141.5e-16128415
TyrKcsmart002193.7e-14128415
STYKcsmart002212.5e-27128399
S_TKcsmart002201.6e-19138418

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM190181.0006 Diseasep.ARG410GLNLOEYS-DIETZ SYNDROME, TYPE 2A
OMIM190181.0004 Diseasep.ARG410PROLOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A, INCLUDED
OMIM190181.0012 Diseasep.ARG337TERMULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
OMIM190181.0007 Diseasep.ARG410TRPLOEYS-DIETZ SYNDROME, TYPE 2A
OMIM190181.0009 Diseasep.ASN45SERMULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
OMIM190181.0002 Diseasep.ASP323GLYLOEYS-DIETZ SYNDROME, TYPE 1A
OMIM190181.0010 Diseasep.GLY52ARGMULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
OMIM190181.0001 Diseasep.MET241ARGLOEYS-DIETZ SYNDROME, TYPE 1A
OMIM190181.0005 Diseasep.SER164LEULOEYS-DIETZ SYNDROME, TYPE 1A
OMIM190181.0003 Diseasep.THR123ILELOEYS-DIETZ SYNDROME, TYPE 1A



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