AutismKB 2.0

Annotation Detail for TGFBR2


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Basic Information Top
Gene Symbol:TGFBR2 ( AAT3,FAA3,LDS1B,LDS2B,MFS2,RIIC,TAAD2,TGFR-2,TGFbeta-RII )
Gene Full Name: transforming growth factor, beta receptor II (70/80kDa)
Band: 3p24.1
Quick LinksEntrez ID:7048; OMIM: 190182; Uniprot ID:TGFR2_HUMAN; ENSEMBL ID: ENSG00000163513; HGNC ID: 11773
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
70N-linked (GlcNAc...) (Potential).
94N-linked (GlcNAc...) (Potential).
154N-linked (GlcNAc...) (Potential).
409Phosphoserine.
548Phosphoserine.
551Phosphoserine.
553Phosphoserine.
Location(AA) Modifications Resource
70N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
94N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
154N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
213Phosphoserine (TGFbR2)Phospho.ELM 6.0
259Phosphotyrosine (TGFbR2)Phospho.ELM 6.0
336Phosphotyrosine (TGFbR2)Phospho.ELM 6.0
409Phosphoserine (TGFbR2)Phospho.ELM 6.0
416Phosphoserine (TGFbR2)Phospho.ELM 6.0
424Phosphotyrosine (TGFbR2)Phospho.ELM 6.0
548Phosphoserine.Swiss-Prot 53.0
548PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
54S-palmitoylHMM predict
69Phosphoserine(IKK)HMM predict
70N-linkedHMM predict
94N-linkedHMM predict
154N-linkedHMM predict
157N-linkedHMM predict
225Phosphoserine(CK1)HMM predict
266N-linkedHMM predict
289Phosphothreonine(PKC)HMM predict
470Phosphotyrosine(Syk)HMM predict
539Phosphoserine(CK1)HMM predict
552S-farnesylHMM predict
562Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001024847
  • Location:chr3 30622997-30710634
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 30613510 30614214 704 9136
ER E2-MCF7GSE14664 30607537 30607569 32 15445
ER E2-MCF7GSE14664 30607664 30607696 32 15318
FOXA1 MCF7GSE15244 30622739 30623098 359 79
H3ac HepG2E 30620932 30622387 1455 1338
NRSF mAbJurkat 30616184 30616581 397 6615
Oct1 HelaGSE14283 30616390 30616431 41 6587
P300 T30-glioblastomaGSE21026 30613453 30614443 990 9050
RARA MCF7GSE15244 30612463 30612901 438 10316
RARA MCF7GSE15244 30613649 30614534 885 8906
RARA MCF7GSE15244 30622739 30622950 211 153
TFAP2C MCF7GSE21234 30612661 30613151 490 10092
TFAP2C MCF7GSE21234 30613665 30614196 531 9067
TFAP2C MCF7GSE21234 30622737 30623139 402 60
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 30722003 30722054 51 11394
Nanog hESGSE18292 30720746 30721155 409 10316
Oct1 HelaGSE14283 30721928 30721966 38 11313
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 30658909 30662140 3231 0
CTCF CD4GSE12889 30710014 30710424 410 0
CTCF CD4SISSRdata 30710014 30710424 410 0
CTCF G2GSE9613 30623066 30623966 900 0
CTCF G2GSE9613 30688206 30688535 329 0
CTCF G2GSE9613 30710045 30710392 347 0
ER E2-MCF7GSE14664 30649095 30649136 41 0
ER E2-MCF7GSE14664 30649333 30649365 32 0
ER E2-MCF7GSE14664 30657097 30657140 43 0
ER E2-MCF7GSE14664 30657948 30657980 32 0
ER E2-MCF7GSE14664 30700260 30700330 70 0
ER E2-MCF7GSE14664 30700535 30700567 32 0
ER E2-MCF7GSE14664 30700606 30700697 91 0
ER E2-MCF7GSE14664 30703281 30703313 32 0
ER E2-MCF7GSE14664 30703349 30703381 32 0
FOXA1 MCF7GSE15244 30660336 30661292 956 0
FOXA1 MCF7GSE15244 30675603 30676355 752 0
FOXA1 MCF7GSE15244 30700274 30700748 474 0
FOXA1 MCF7GSE15244 30708822 30709559 737 0
FoxA1 MCF7MACSdata 30709036 30709210 174 0
H3ac HepG2E 30623519 30624252 733 0
H3ac HepG2E 30624922 30626531 1609 0
H3ac HepG2E 30626979 30629593 2614 0
Oct1 H2O2-HelaGSE14283 30682379 30682413 34 0
Oct1 H2O2-HelaGSE14283 30705682 30705711 29 0
Oct1 HelaGSE14283 30632017 30632064 47 0
Oct1 HelaGSE14283 30682379 30682414 35 0
P300 T30-glioblastomaGSE21026 30622617 30623580 963 0
RARA MCF7GSE15244 30628977 30629593 616 0
RARA MCF7GSE15244 30632759 30633195 436 0
RARA MCF7GSE15244 30642761 30643564 803 0
RARA MCF7GSE15244 30660051 30661400 1349 0
RARA MCF7GSE15244 30675603 30676246 643 0
RARA MCF7GSE15244 30700043 30701000 957 0
RARA MCF7GSE15244 30705564 30706245 681 0
RARG MCF7GSE15244 30700274 30700819 545 0
TFAP2C MCF7GSE21234 30683699 30684006 307 0
TFAP2C MCF7GSE21234 30698359 30698767 408 0
TFAP2C MCF7GSE21234 30700258 30700811 553 0
TFAP2C MCF7GSE21234 30705783 30706102 319 0
hScc1 BcellGSE12603 30622990 30624005 1015 0
hScc1 BcellGSE12603 30709939 30710472 533 0
hScc1 CdLSGSE12603 30709831 30710511 680 0
hScc1 G2GSE9613 30622809 30623966 1157 0
hScc1 G2GSE9613 30709975 30710537 562 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-106a hsa-mir-106a X 16461460
hsa-miR-106a* hsa-mir-106a X 16461460
hsa-miR-106b hsa-mir-106b 7 21285944
hsa-miR-106b* hsa-mir-106b 7 21285944
hsa-miR-126 hsa-mir-126 9 20701609
hsa-miR-126* hsa-mir-126 9 20701609
hsa-miR-133a hsa-mir-133a-1 18 19398468
hsa-miR-133a hsa-mir-133a-2 20 19398468
hsa-miR-133b hsa-mir-133b 6 19398468
hsa-miR-143 hsa-mir-143 5 19435428
hsa-miR-143* hsa-mir-143 5 19435428
hsa-miR-145 hsa-mir-145 5 19435428
hsa-miR-145* hsa-mir-145 5 19435428
hsa-miR-146b-3p hsa-mir-146b 10 19435428
hsa-miR-146b-5p hsa-mir-146b 10 19435428
hsa-miR-148a hsa-mir-148a 7 19435428
hsa-miR-148a* hsa-mir-148a 7 19435428
hsa-miR-155 hsa-mir-155 21 16461460
hsa-miR-155* hsa-mir-155 21 16461460
hsa-miR-15a hsa-mir-15a 13 21340045
hsa-miR-15a* hsa-mir-15a 13 21340045
hsa-miR-17 hsa-mir-17 13 19435428
hsa-miR-17* hsa-mir-17 13 19435428
hsa-miR-204 hsa-mir-204 9 20056717
hsa-miR-20a hsa-mir-20a 13 16461460
hsa-miR-20a* hsa-mir-20a 13 16461460
hsa-miR-21 hsa-mir-21 17 20701609
hsa-miR-21 hsa-mir-21 17 19906824
hsa-miR-21 hsa-mir-21 17 19816956
hsa-miR-21 hsa-mir-21 17 16461460
hsa-miR-21* hsa-mir-21 17 20701609
hsa-miR-21* hsa-mir-21 17 19906824
hsa-miR-21* hsa-mir-21 17 19816956
hsa-miR-21* hsa-mir-21 17 16461460
hsa-miR-211 hsa-mir-211 15 21109473
hsa-miR-211 hsa-mir-211 15 20056717
hsa-miR-214 hsa-mir-214 1 19435428
hsa-miR-214* hsa-mir-214 1 19435428
hsa-miR-26a hsa-mir-26a-1 3 16461460
hsa-miR-26a hsa-mir-26a-2 12 16461460
hsa-miR-30e hsa-mir-30e 1 21340045
hsa-miR-30e* hsa-mir-30e 1 21340045
hsa-miR-520h hsa-mir-520h 19 19435428
hsa-miR-590-3p hsa-mir-590 7 19398468
hsa-miR-590-5p hsa-mir-590 7 19398468
hsa-miR-663 hsa-mir-663 20 20637737
hsa-miR-92a hsa-mir-92a-1 13 19435428
hsa-miR-92a hsa-mir-92a-2 X 19435428
hsa-miR-93 hsa-mir-93 7 21285944
hsa-miR-93* hsa-mir-93 7 21285944
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
527 mRNA repression TRUE miR-20a TGFBR2 in vitro reporter gene assay (Luciferase) 16461460
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000163513 n_a n_a n_a "adipocyte, epithelium, squamous cell, lymphoblast, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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