EuRBPDB

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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
20574165Frequent hyperphosphorylation of AS160 in breast cancer.Cancer Biol Ther2010 Aug 15Jiang XH-

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr1375341142Missense_Mutationrs774714689I532V0.27
BLCAchr1375481529Missense_MutationnovelR80Q0.21
BLCAchr1375359852Nonsense_Mutationrs587777260R363*0.21
BLCAchr1375326391SilentNAT613T0.11
BLCAchr1375362158SilentNAC316C0.11
BLCAchr1375306463Missense_MutationnovelD868H0.33
BLCAchr1375324257SilentnovelP726P0.21
BLCAchr1375306375Frame_Shift_DelnovelL897Cfs*20.17
BLCAchr1375294980Missense_MutationnovelD1064H0.4
BLCAchr1375306363Missense_MutationnovelR901K0.33
BLCAchr1375310058Frame_Shift_DelnovelD826Afs*140.06
BLCAchr1375326321Nonsense_Mutationrs771771231R637*0.59
BLCAchr1375481281Missense_MutationnovelD163Y0.57
BLCAchr1375294994Missense_MutationNAS1059C0.16
BLCAchr1375286975SilentnovelL1238L0.73
BLCAchr1375481381SilentnovelF129F0.73
BLCAchr1375286929Missense_MutationNAE1254Q0.08
BLCAchr1375299428SilentnovelL1020L0.38
BLCAchr1375326345Missense_MutationnovelE629Q0.35
BLCAchr1375359771Missense_MutationnovelQ390E0.45
BLCAchr1375481537SilentnovelP77P0.25
BRCAchr1375349208Missense_MutationNAP457R0.3
BRCAchr1375292248Missense_MutationNAE1114K0.43
BRCAchr1375288963Nonsense_MutationnovelQ1212*0.18
BRCAchr1375302343SilentnovelL937L0.08
BRCAchr1375302343SilentNAL937L0.23
BRCAchr1375306446Missense_MutationNAR873S0.72
BRCAchr1375481560Missense_MutationNAE70K0.83
BRCAchr1375362218Silentrs765255505F296F0.19
BRCAchr1375362298Nonsense_MutationNAE270*0.32
BRCAchr1375481430Missense_Mutationrs375426745N113S0.5
BRCAchr1375289008Missense_MutationnovelE1197K0.05
BRCAchr1375362324Missense_MutationNAG261E0.18
BRCAchr1375326404Missense_MutationNAS609F0.17
BRCAchr1375341129Frame_Shift_DelnovelT528Ifs*240.18
BRCAchr1375306433Missense_MutationNAD878H0.36
BRCAchr1375362124Missense_Mutationrs370555579E328K0.33
BRCAchr1375310065Missense_MutationNAE824K0.25
BRCAchr1375294923Missense_MutationnovelY1083N0.19
BRCAchr1375359786Missense_MutationNAI385F0.19
BRCAchr1375356219SilentnovelI401I0.13
CESCchr1375294887Missense_MutationNAQ1095E0.06
CESCchr1375312882Missense_MutationnovelK747E0.18
CESCchr1375292183Silentrs540075377E1135E0.28
CESCchr1375302286SilentnovelL956L0.14
CESCchr13752863553'UTRnovel0.47
CESCchr1375349170Missense_MutationnovelG470C0.09
CESCchr1375349267SilentnovelF437F0.11
CESCchr1375349251Silentrs778495732L443L0.16
COADchr1375292180Missense_MutationNAS1136R0.35
COADchr1375481457Missense_MutationnovelG104D0.49
COADchr1375312804Missense_MutationnovelR773W0.33
COADchr1375326373Silentrs143268388P619P0.24
COADchr1375337035Missense_MutationnovelI539M0.28
COADchr1375312882Missense_MutationnovelK747E0.23
COADchr1375481360SilentnovelL136L0.38
COADchr1375481749Missense_MutationnovelI7F0.35
COADchr1375362024Splice_SitenovelX360_splice0.17
COADchr1375310112Missense_MutationNAL808P0.33
COADchr1375299476Nonsense_MutationnovelE1004*0.22
COADchr1375362365SilentnovelD247D0.07
COADchr1375349243SilentnovelS445S0.38
COADchr1375299519SilentNAL989L0.31
COADchr1375310067Missense_MutationNAG823E0.27
COADchr1375481653Missense_MutationNAW39R0.45
COADchr1375362098SilentNAR336R0.37
COADchr1375362400Missense_MutationNAR236C0.28
COADchr1375362082Missense_Mutationrs760407055A342T0.44
COADchr1375286816Missense_MutationnovelK1291N0.22
COADchr1375309972Nonsense_MutationNAR855*0.16
COADchr1375324403Splice_SiteNAX678_splice0.26
COADchr1375326337Silentrs188607347S631S0.36
COADchr1375289012Silentrs373137539D1195D0.35
COADchr1375292267SilentnovelI1107I0.12
COADchr1375292269Frame_Shift_InsnovelI1107Gfs*20.12
COADchr1375341186Frame_Shift_InsnovelH517Pfs*90.07
COADchr1375481292Frame_Shift_DelnovelF159Sfs*160.14
COADchr1375326237Missense_Mutationrs376333903R665C0.25
COADchr13752867403'UTRnovel0.09
COADchr1375294919Missense_MutationNAA1084D0.22
COADchr1375362452Frame_Shift_DelNAS219Qfs*190.23
ESCAchr13752867233'UTRnovel0.13
ESCAchr1375349208Missense_MutationNAP457R0.31
ESCAchr1375481639Frame_Shift_DelnovelS44Rfs*390.46
GBMchr1375312828Missense_MutationnovelV765F0.03
GBMchr1375306327Missense_MutationnovelT913N0.08
GBMchr1375481705SilentnovelG21G0.3
GBMchr13752867253'UTRnovel0.56
GBMchr1375286973Missense_Mutationrs375003443T1239M0.2
GBMchr1375362581Frame_Shift_InsnovelQ176Afs*40.24
GBMchr1375341200SilentnovelE512E0.45
GBMchr1375359768Splice_SiteNAX390_splice0.29
HNSCchr1375362566Silentrs373080119A180A0.31
HNSCchr1375288988Missense_MutationnovelE1203D0.22
HNSCchr1375356211Frame_Shift_InsnovelE404Gfs*80.23
HNSCchr1375356184Missense_MutationnovelY413F0.22
HNSCchr1375349208Missense_MutationNAP457R0.27
HNSCchr1375299457Missense_MutationnovelG1010V0.41
HNSCchr1375356217Missense_MutationnovelC402F0.31
HNSCchr1375299463Missense_MutationnovelC1008S0.05
HNSCchr1375324324Missense_MutationnovelS704F0.44
HNSCchr1375324244Missense_MutationnovelE731K0.26
HNSCchr1375336983Missense_MutationnovelD557N0.16
HNSCchr1375324278SilentnovelQ719Q0.24
KIRPchr1375310063Silentrs762449836E824E0.47
KIRPchr1375324347SilentnovelL696L0.19
KIRPchr1375349279SilentNAL433L0.48
KIRPchr1375294936SilentnovelI1078I0.29
LAMLchr1375312817SilentnovelR768R0.75
LGGchr1375481764Missense_MutationNAE2K0.5
LGGchr1375299337Missense_Mutationrs767493446S1050L0.36
LGGchr1375312893Missense_MutationnovelG743E0.21
LGGchr1375310088Missense_Mutationrs766624952P816L0.4
LIHCchr1375481467Missense_MutationNAA101T0.52
LIHCchr1375481736Missense_MutationnovelP11R0.84
LIHCchr1375310061Missense_Mutationrs531614085D825V0.53
LUADchr1375310143Missense_MutationnovelD798Y0.56
LUADchr1375286980Missense_MutationnovelL1237F0.14
LUADchr1375324300Missense_MutationnovelS712C0.09
LUADchr1375288954Missense_MutationNAD1215Y0.3
LUADchr1375310018SilentNAL839L0.26
LUADchr1375362491SilentNAL205L0.11
LUADchr1375310114Silentrs201049082P807P0.2
LUADchr1375362086SilentNAA340A0.2
LUADchr1375288949SilentnovelL1216L0.06
LUADchr1375362258Missense_MutationNAG283A0.59
LUADchr1375349188Missense_MutationnovelL464I0.08
LUADchr1375286909Missense_MutationNAK1260N0.23
LUSCchr1375312877Missense_MutationnovelR748S0.32
LUSCchr1375309988SilentnovelQ849Q0.39
LUSCchr1375349221Missense_MutationNAC453S0.13
LUSCchr1375362242SilentnovelA288A0.28
LUSCchr1375302338Missense_MutationnovelH939P0.88
LUSCchr1375481423SilentNAA115A0.83
LUSCchr1375481406Missense_MutationNAH121R0.63
LUSCchr1375341569Missense_MutationNAA476D0.34
LUSCchr1375302259Silentrs367622658A965A0.25
LUSCchr1375312759Missense_MutationNAP788S0.39
LUSCchr1375362113Missense_MutationnovelQ331H0.49
LUSCchr1375349252SilentnovelA442A0.1
LUSCchr1375324322Missense_Mutationrs746805947A705T0.33
LUSCchr1375326262SilentnovelL656L0.42
LUSCchr1375320022SilentnovelS738S0.5
LUSCchr1375341122Splice_Regionnovel0.16
LUSCchr1375294894SilentnovelF1092F0.29
LUSCchr1375341583SilentNAL471L0.12
LUSCchr1375324382Missense_Mutationrs775000830R685C0.12
OVchr1375310095Missense_MutationNAE814Q0.3
OVchr1375312762Missense_MutationNAS787A0.11
OVchr1375294913Missense_MutationNAP1086L0.47
OVchr1375294981SilentNAH1063H0.57
OVchr1375299506Missense_MutationNAL994V0.31
OVchr1375310016Missense_MutationnovelR840K0.09
OVchr1375320034SilentnovelQ734Q0.09
OVchr1375326207Nonsense_MutationnovelE675*0.08
PAADchr1375302301SilentnovelS951S0.15
PRADchr1375481545Missense_MutationnovelG75R1
PRADchr1375341139Missense_Mutationrs377319895G533R0.28
PRADchr1375349208Missense_MutationNAP457R0.07
READchr1375362034Missense_MutationNAL358V0.16
READchr1375326382Silentrs778659370A616A0.26
READchr13752866503'UTRnovel0.23
READchr13752867763'UTRnovel0.05
READchr1375286972SilentNAT1239T0.11
READchr1375359799Missense_Mutationrs751078491K380N0.42
READchr1375362210Missense_Mutationrs755204418R299Q0.06
READchr1375310048Missense_MutationnovelK829N0.11
READchr1375362059SilentNAS349S0.27
SARCchr1375286973Missense_Mutationrs375003443T1239M0.13
SARCchr1375356215Missense_Mutationrs377252828R403W0.28
SKCMchr1375292140Missense_MutationnovelD1150N0.74
SKCMchr1375324357Missense_MutationNAS693F0.17
SKCMchr1375362163Missense_MutationnovelR315W0.67
SKCMchr1375324311SilentnovelF708F0.44
SKCMchr1375288949SilentNAL1216L0.45
SKCMchr1375299384SilentnovelL1034L0.5
SKCMchr1375294913Missense_MutationNAP1086L0.16
SKCMchr1375324304Missense_MutationNAP711S0.24
SKCMchr1375326331SilentnovelS633S0.25
SKCMchr1375326332Missense_MutationnovelS633F0.25
SKCMchr1375481687SilentNAG27G0.23
SKCMchr1375286894SilentNAL1265L0.52
SKCMchr1375286989SilentNAL1234L0.19
SKCMchr1375289014Missense_MutationNAD1195N0.45
SKCMchr1375356234Missense_MutationNAD396E0.35
SKCMchr1375288938Nonsense_MutationnovelL1220*0.55
SKCMchr1375288939Missense_MutationNAL1220I0.55
SKCMchr1375299507SilentnovelN993N0.5
SKCMchr1375299510Frame_Shift_DelnovelF992Lfs*40.5
SKCMchr1375362321Missense_Mutationrs751499017S262F0.52
SKCMchr1375362419SilentnovelF229F0.32
SKCMchr1375287007Nonsense_MutationnovelQ1228*0.14
SKCMchr13752867543'UTRnovel0.22
SKCMchr1375326254Missense_MutationNAG659E0.14
SKCMchr1375286880Missense_Mutationrs749850246P1270L0.3
STADchr1375289055Missense_MutationNAV1181A0.35
STADchr1375362524Missense_MutationNAD194E0.05
STADchr1375310060SilentnovelD825D0.16
STADchr1375481685Missense_MutationnovelP28H0.29
STADchr1375312827Missense_MutationNAV765A0.24
STADchr1375310112Frame_Shift_DelnovelL808Pfs*320.4
STADchr1375326328Silentrs184072266P634P0.3
STADchr1375299569Missense_MutationNAT973S0.35
STADchr1375327785SilentNAS591S0.32
STADchr1375337007Missense_MutationnovelT549S0.27
STADchr1375481457Frame_Shift_Delrs771111051G104Afs*390.2
STADchr1375481406Missense_MutationNAH121R0.09
STADchr1375481617Missense_Mutationrs370400049T51A0.3
STADchr1375481300SilentnovelC156C0.53
STADchr1375287017SilentNAH1224H0.07
STADchr1375294912Frame_Shift_DelnovelW1087Gfs*120.32
STADchr1375481587Missense_MutationnovelE61K0.34
STADchr1375341537Missense_MutationnovelL487V0.21
STADchr1375481756SilentNAP4P0.33
STADchr1375292118Missense_MutationnovelE1157G0.32
STADchr1375324393Missense_Mutationrs372617227S681L0.28
STADchr1375362125Silentrs773880965H327H0.43
STADchr1375362124Missense_Mutationrs370555579E328K0.42
STADchr1375327778Missense_Mutationrs201208079R594W0.28
STADchr1375324258Frame_Shift_DelnovelP726Hfs*330.42
STADchr1375292129Silentrs368284408T1153T0.09
STADchr1375299536Missense_MutationNAL984F0.17
STADchr1375481675SilentNAP31P0.38
STADchr1375362317Frame_Shift_DelNAG264Efs*260.39
THCAchr1375356215Silentrs377252828R403R0.09
THCAchr1375294973In_Frame_InsnovelH1066delinsPFNY0.05
THCAchr1375294975Nonsense_MutationnovelY1065*0.04
UCECchr1375356160Missense_MutationNAA421V0.43
UCECchr1375306316Nonsense_Mutationrs745653179E917*0.38
UCECchr1375356153Missense_MutationNAE423D0.29
UCECchr1375362259Missense_MutationNAG283W0.35
UCECchr1375286875Missense_MutationNAD1272N0.28
UCECchr1375312742SilentNAQ793Q0.22
UCECchr1375292162SilentnovelE1142E0.2
UCECchr1375299364Missense_Mutationrs199560195R1041H0.34
UCECchr1375286938Missense_MutationnovelL1251M0.05
UCECchr1375302259Silentrs367622658A965A0.39
UCECchr1375362199Missense_MutationNAD303Y0.41
UCECchr1375481527Nonsense_Mutationrs770167590E81*0.37
UCECchr1375310015SilentnovelR840R0.46
UCECchr1375326389Missense_Mutationrs780599874P614L0.54
UCECchr1375341198Missense_MutationnovelL513R0.53
UCECchr1375309972Nonsense_MutationNAR855*0.41
UCECchr1375326373SilentNAP619P0.44
UCECchr1375362440SilentNAI222I0.46
UCECchr1375481370Missense_MutationnovelS133I0.35
UCECchr1375326348Missense_MutationNAE628K0.38
UCECchr1375286944Missense_Mutationrs201344804R1249W0.34
UCECchr1375326365Missense_MutationnovelA622V0.53
UCECchr13752857883'UTRnovel0.32
UCECchr1375309971Missense_MutationnovelR855Q0.24
UCECchr1375326373Silentrs143268388P619P0.16
UCECchr1375302316Missense_MutationNAQ946H0.27
UCECchr1375312886SilentnovelG745G0.12
UCECchr1375312887Missense_MutationnovelG745E0.08
UCECchr1375320030Missense_Mutationrs542340330T736A0.29
UCECchr1375349186SilentNAL464L0.21
UCECchr1375356236Missense_MutationNAD396N0.12
UCECchr1375362034Missense_MutationnovelL358F0.1
UCECchr1375341213Missense_MutationNAQ508R0.44
UCECchr1375362101Silentrs145011623P335P0.39
UCECchr1375359799Missense_Mutationrs751078491K380N0.42
UCECchr13752854763'UTRnovel0.7
UCECchr1375336922Missense_MutationnovelR577K0.33
UCECchr1375286952Missense_MutationnovelS1246Y0.39
UCECchr1375310093Missense_MutationnovelE814D0.43
UCECchr1375326321Nonsense_Mutationrs771771231R637*0.42
UCECchr1375359799Missense_Mutationrs751078491K380N0.1
UCECchr1375286877Frame_Shift_DelnovelL1269Rfs*40.18
UCECchr1375299531Silentrs557817497G985G0.31
UCECchr1375326201Missense_MutationnovelC677R0.18
UCECchr1375362473SilentnovelT211T0.29
UCECchr1375481464Missense_MutationnovelS102P0.22
UCECchr13752860483'UTRnovel0.44
UCECchr1375288938Missense_MutationnovelL1220S0.27
UCECchr1375362440SilentNAI222I0.24
UCECchr1375294867SilentnovelV1101V0.35
UCECchr1375302330Missense_MutationnovelP942S0.22
UCECchr1375359799Missense_Mutationrs751078491K380N0.36
UCECchr13752867013'UTRnovel0.31
UCECchr1375288996Missense_MutationnovelK1201E0.14
UCECchr1375312878Missense_MutationnovelR748M0.22
UCECchr13752863113'UTRnovel0.22
UCECchr1375362549Missense_MutationnovelA186D0.33
UCECchr1375310041Nonsense_MutationnovelE832*0.7
UCECchr1375341511SilentnovelI495I0.28
UCECchr13752867253'UTRnovel0.13
UCECchr1375292187Missense_MutationnovelC1134Y0.21
UCECchr1375299372SilentNAL1038L0.35
UCECchr1375299490Missense_MutationNAS999F0.47
UCECchr1375362483Missense_MutationNAG208E0.36
UCECchr1375299337Missense_Mutationrs767493446S1050L0.19
UCECchr1375302259Silentrs367622658A965A0.41
UCECchr1375310016Missense_MutationnovelR840K0.12
UCECchr1375324326Missense_MutationnovelF703L0.14
UCECchr1375362401SilentnovelQ235Q0.15
UCECchr1375362373Missense_MutationnovelG245S0.49
UCECchr1375326373Silentrs143268388P619P0.41
UCECchr1375359773Missense_MutationnovelS389F0.27
UCECchr13752857843'UTRnovel0.3
UCECchr13752859913'UTRnovel0.61
UCECchr1375341211Missense_MutationnovelE509K0.26
UCECchr1375356155Missense_Mutationrs760528845E423K0.27
UCECchr1375362099Missense_MutationNAR336Q0.38
UCECchr1375310113Frame_Shift_DelnovelL808Sfs*320.48
UCECchr1375359771Nonsense_Mutationrs771093387Q390*0.34
UCECchr13752856793'UTRnovel0.39
UCECchr13752855263'UTRnovel0.3
UCECchr13752865943'UTRnovel0.28
UCECchr1375292112Missense_MutationnovelI1159S0.27
UCECchr1375327805Missense_MutationnovelR585W0.28
UCECchr1375286929Nonsense_MutationNAE1254*0.32
UCECchr1375309971Missense_MutationnovelR855Q0.04
UCECchr13752857453'UTRnovel0.19
UCECchr1375324340Missense_MutationnovelL699I0.13
UCECchr1375362530SilentNAN192N0.44
UCECchr1375349210Nonsense_MutationnovelC456*0.28
UCECchr1375292192Missense_MutationNAM1132I0.1
UCECchr1375362316Missense_Mutationrs769815689G264R0.48
UCECchr1375292256Missense_MutationnovelQ1111R0.32
UCECchr1375286925Missense_MutationNAK1255R0.43
UCECchr1375481621SilentnovelR49R0.44
UCECchr1375309972Nonsense_MutationNAR855*0.23
UCECchr1375326321Nonsense_Mutationrs771771231R637*0.24
UCECchr1375294866Missense_MutationNAA1102T0.46
UCECchr1375286935Nonsense_MutationnovelE1252*0.22
UCECchr1375299490Missense_MutationNAS999Y0.19
UCECchr1375326355Silentrs377713994T625T0.25
UCECchr1375337016Missense_MutationnovelE546K0.55
UCECchr1375362082Missense_Mutationrs760407055A342T0.54
UCECchr1375481585Missense_MutationnovelE61D0.4
UCECchr13752864763'UTRnovel0.41
UCECchr1375337013Missense_MutationnovelN547H0.47
UCECchr1375362162Missense_MutationnovelR315Q0.35
UCECchr1375289063SilentnovelE1178E0.04
UCECchr1375326328Silentrs184072266P634P0.25
UCECchr13752856543'UTRnovel0.54
UCECchr1375359810Missense_MutationnovelV377M0.47
UCECchr1375362512Missense_MutationnovelN198K0.29
UCSchr1375310027SilentnovelS836S0.47

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
CHOLDEL0.41670.076931
GBMDEL0.34664.92e-12
PRADDEL0.29671.7107e-36

Survival Analysis
CancerP-value Q-value
KIRC0.0001

Kaplan-Meier Survival Analysis

MESO0.044

Kaplan-Meier Survival Analysis

ACC0.0041

Kaplan-Meier Survival Analysis

HNSC0.034

Kaplan-Meier Survival Analysis

SKCM0.0047

Kaplan-Meier Survival Analysis

BRCA0.0065

Kaplan-Meier Survival Analysis

KIRP0.00018

Kaplan-Meier Survival Analysis

LIHC0.024

Kaplan-Meier Survival Analysis

LGG0.0038

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000136111 (Gene tree)
Gene ID
9882
Gene Symbol
TBC1D4
Alias
KIAA0603|AS160|DKFZp779C0666
Full Name
TBC1 domain family member 4
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
199,144 bases
Position
chr13:75,283,503-75,482,646
Accession
19165
RBP type
non-canonical RBP
Summary
This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000648194TBC1D4-2086656XM_017020882ENSP000004969831054 (aa)XP_016876371UPI000047D126
ENST00000431480TBC1D4-2046347-ENSP000003959861290 (aa)-O60343
ENST00000377625TBC1D4-2016182-ENSP000003668521235 (aa)-O60343
ENST00000377636TBC1D4-2026364XM_005266603ENSP000003668631298 (aa)XP_005266660O60343
ENST00000488955TBC1D4-206336--- (aa)--
ENST00000478591TBC1D4-205759--- (aa)--
ENST00000413735TBC1D4-203847-ENSP00000396932282 (aa)-Q5JU47
ENST00000493487TBC1D4-207458--- (aa)--
Gene Model
Click here to download ENSG00000136111's gene model file
Pathways
Pathway IDPathway NameSource
hsa04919Thyroid hormone signaling pathwayKEGG
hsa04931Insulin resistanceKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000136111Carotid Stenosis1.73238930404422E-617903303
ENSG00000136111Carotid Stenosis6.19547711432883E-717903303
ENSG00000136111Anger9.514e-005-
ENSG00000136111Blood Pressure4.1860000E-005-
ENSG00000136111Blood Pressure7.4540000E-006-
ENSG00000136111Blood Pressure4.1630000E-006-
ENSG00000136111Blood Pressure5.7390000E-005-
ENSG00000136111Blood Pressure2.5710000E-005-
ENSG00000136111Platelet Function Tests1.8034654E-006-
ENSG00000136111Platelet Function Tests1.8184172E-006-
ENSG00000136111Cholesterol, HDL3.6590000E-006-
ENSG00000136111Cholesterol, HDL1.8180000E-005-
ENSG00000136111Venous Thromboembolism2E-628203683
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000136111rs95735631375480960?Mean corpuscular volume29403010[0.027-0.051] unit decrease novel0.03898EFO_0004526
ENSG00000136111rs95735631375480960?Mean corpuscular hemoglobin29403010[0.022-0.046] unit decrease novel0.03404EFO_0004527
ENSG00000136111rs740962151375295026CVenous thromboembolism adjusted for sickle cell variant rs77121243-T28203683[1.627-3.183]2.276EFO_0004286
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000136111's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0005096GTPase activator activity21873635.IBAFunction
GO:0005829cytosol-IDAComponent
GO:0006886intracellular protein transport21873635.IBAProcess
GO:0016192vesicle-mediated transport22908308.IMPProcess
GO:0017137Rab GTPase binding21873635.IBAFunction
GO:0031339negative regulation of vesicle fusion-IEAProcess
GO:0031982vesicle-IEAComponent
GO:0032869cellular response to insulin stimulus22908308.IMPProcess
GO:0090630activation of GTPase activity21873635.IBAProcess
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