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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body3 / 7076142
blastocyst0 / 623190 
fetus49 / 56401286
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult200 / 1939121103
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma21 / 82823253
colorectal tumor16 / 114246140
esophageal tumor1 / 1729057
gastrointestinal tumor13 / 119369108
germ cell tumor10 / 26384537
glioma10 / 10688393
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor5 / 9635951
lung tumor5 / 10312748
lymphoma7 / 7175597
non-neoplasia13 / 97250133
normal275 / 336030781
ovarian tumor4 / 7668252
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland4 / 33197120
ascites3 / 4001574
bladder2 / 2975767
blood10 / 12347880
bone10 / 71655139
bone marrow5 / 48801102
brain32 / 110098929
cervix6 / 48171124
connective tissue25 / 149255167
ear7 / 16212431
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye7 / 21105433
heart8 / 8962689
intestine32 / 234472136
kidney27 / 211777127
larynx0 / 241450 
liver10 / 20774348
lung23 / 33697468
lymph1 / 4427022
lymph node9 / 9161098
mammary gland4 / 15327126
mouth3 / 6705244
muscle7 / 10771564
nerve0 / 157680 
ovary4 / 10205139
pancreas25 / 214812116
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta30 / 280825106
prostate5 / 18934526
salivary gland0 / 201550 
skin21 / 21057499
spleen4 / 5395274
stomach10 / 96619103
testis5 / 33044215
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus32 / 232878137
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207334_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.35
Adipocyte20.3
AdrenalCortex6.25
Adrenalgland5.75
Amygdala5.55
Appendix5.9
AtrioventricularNode5.25
BDCA4+_DentriticCells10.9
Bonemarrow6.1
BronchialEpithelialCells5.5
CD105+_Endothelial11.65
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)6.2
CD33+_Myeloid7.8
CD34+7.4
CD4+_Tcells15.75
CD56+_NKCells9.35
CD71+_EarlyErythroid5.05
CD8+_Tcells24.25
CardiacMyocytes19.45
Caudatenucleus4.8
Cerebellum4.6
CerebellumPeduncles6.75
CiliaryGanglion4.4
CingulateCortex5.85
Colorectaladenocarcinoma5.7
DorsalRootGanglion4.5
FetalThyroid5.8
Fetalbrain5.2
Fetalliver5
Fetallung5.75
GlobusPallidus4.25
Heart7.75
Hypothalamus6.05
Kidney5
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.45
Liver7.8
Lung6.2
Lymphnode5.3
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)8.2
MedullaOblongata5.15
OccipitalLobe5
OlfactoryBulb4.5
Ovary3.9
Pancreas4.9
PancreaticIslet6.05
ParietalLobe6
Pituitary7.1
Placenta11.4
Pons5.4
PrefrontalCortex7
Prostate6.6
Salivarygland4.65
SkeletalMuscle7.05
Skin4.6
SmoothMuscle31.9
Spinalcord5.8
SubthalamicNucleus5.45
SuperiorCervicalGanglion7.8
TemporalLobe5.3
Testis4.85
TestisGermCell4.55
TestisIntersitial5
TestisLeydigCell5.9
TestisSeminiferousTubule4.8
Thalamus5.85
Thymus5.2
Thyroid7.15
Tongue5.7
Tonsil5.55
Trachea4.85
TrigeminalGanglion7.5
Uterus4.45
UterusCorpus5.25
WholeBlood19.3
Wholebrain4.55
colon8.4
pineal_day6.84
pineal_night7.2
retina7.5
small_intestine6.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P211957
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala5.6 ± 0.61
Basal Forebrain6.2 ± 0.39
Basal Part of Pons6.07 ± 0.38
Cerebellar Cortex5.92 ± 0.26
Cerebellar Nuclei7.27 ± 0.32
Claustrum5.46 ± 0.7
Epithalamus6.4 ± 0.61
Frontal Lobe6.38 ± 0.46
Globus Pallidus7.55 ± 0.33
Hypothalamus6.09 ± 0.63
Insula6.35 ± 0.28
Limbic Lobe6.2 ± 0.53
Mesencephalon6.66 ± 0.48
Myelencephalon6.54 ± 0.56
Occipital Lobe6.63 ± 0.73
Parietal Lobe6.18 ± 0.63
Pontine Tegmentum6.59 ± 0.54
Striatum7.38 ± 0.52
Subthalamus6.99 ± 0.16
Temporal Lobe6.38 ± 0.38
Thalamus6.92 ± 0.59
White Matter7.13 ± 1.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tgfbr2CBCerebellum1.51
2.46
Tgfbr2CTXCerebral cortex0.28
0.4
Tgfbr2HIPHippocampal region0.31
0.77
Tgfbr2HPFHippocampal formation0.24
0.46
Tgfbr2HYHypothalamus0.08
0.14
Tgfbr2LSXLateral septal complex0.48
0.35
Tgfbr2MBMidbrain0.57
0.99
Tgfbr2MYMedulla1.22
1.97
Tgfbr2OLFOlfactory bulb0.89
0.95
Tgfbr2PPons1.15
2.14
Tgfbr2PALPallidum0.69
2.24
Tgfbr2RHPRetrohippocampal region0.15
0.19
Tgfbr2sAMYStriatum-like amygdalar nuclei0.11
0.32
Tgfbr2STRStriatum0.27
0.31
Tgfbr2STRdStriatum dorsal region0.25
0.25
Tgfbr2STRvStriatum ventral region0.32
0.25
Tgfbr2THThalamus0.61
0.93
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00082128 16 357 372 GIAHLHSDHTPCGRPK Peptide Atlas

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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