AutismKB 2.0

Annotation Detail for ITPR2


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Basic Information Top
Gene Symbol:ITPR2 ( IP3R2 )
Gene Full Name: inositol 1,4,5-triphosphate receptor, type 2
Band: 12p11.23
Quick LinksEntrez ID:3709; OMIM: 600144; Uniprot ID:ITPR2_HUMAN; ENSEMBL ID: ENSG00000123104; HGNC ID: 6181
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
blastocyst2 / 6231932
fetus34 / 56401260
neonate1 / 3109732
infant0 / 236200 
juvenile9 / 55556161
adult94 / 193912148
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) tumor6 / 9417863
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia8 / 9584283
liver tumor9 / 9635993
lung tumor1 / 1031279
lymphoma7 / 7175597
non-neoplasia1 / 9725010
normal168 / 336030749
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites3 / 4001574
bladder0 / 297570 
blood5 / 12347840
bone4 / 7165555
bone marrow1 / 4880120
brain15 / 110098913
cervix2 / 4817141
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine6 / 23447225
kidney15 / 21177770
larynx1 / 2414541
liver21 / 207743101
lung8 / 33697423
lymph2 / 4427045
lymph node14 / 91610152
mammary gland16 / 153271104
mouth1 / 6705214
muscle8 / 10771574
nerve1 / 1576863
ovary3 / 10205129
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta13 / 28082546
prostate4 / 18934521
salivary gland1 / 2015549
skin4 / 21057418
spleen0 / 539520 
stomach4 / 9661941
testis3 / 3304429
thymus10 / 81131123
thyroid2 / 4747342
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus8 / 23287834
vascular3 / 5178057
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202661_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.8
Adipocyte5
AdrenalCortex5.95
Adrenalgland4.3
Amygdala5.1
Appendix5.25
AtrioventricularNode4.05
BDCA4+_DentriticCells5.35
Bonemarrow4.95
BronchialEpithelialCells4.7
CD105+_Endothelial4.85
CD14+_Monocytes5.2
CD19+_BCells(neg._sel.)5.15
CD33+_Myeloid6.15
CD34+6.1
CD4+_Tcells5.15
CD56+_NKCells5.7
CD71+_EarlyErythroid4.6
CD8+_Tcells4.6
CardiacMyocytes6.7
Caudatenucleus4.4
Cerebellum4
CerebellumPeduncles5.6
CiliaryGanglion3.7
CingulateCortex5.05
Colorectaladenocarcinoma4.9
DorsalRootGanglion3.9
FetalThyroid4.75
Fetalbrain4.8
Fetalliver4.35
Fetallung3.9
GlobusPallidus3.7
Heart6.7
Hypothalamus5.3
Kidney4.15
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)3.8
Liver6.65
Lung5.3
Lymphnode4.15
Lymphoma_burkitts(Daudi)6.45
Lymphoma_burkitts(Raji)7
MedullaOblongata4.4
OccipitalLobe4.35
OlfactoryBulb3.9
Ovary3.25
Pancreas4
PancreaticIslet5.25
ParietalLobe5.25
Pituitary5.7
Placenta4.9
Pons4.7
PrefrontalCortex6.05
Prostate5.65
Salivarygland6.05
SkeletalMuscle6.05
Skin3.95
SmoothMuscle5.55
Spinalcord6.6
SubthalamicNucleus4.55
SuperiorCervicalGanglion6
TemporalLobe4.55
Testis4.2
TestisGermCell3.95
TestisIntersitial4.15
TestisLeydigCell4.85
TestisSeminiferousTubule4.15
Thalamus5
Thymus3.8
Thyroid6
Tongue5
Tonsil4.8
Trachea4.2
TrigeminalGanglion5.1
Uterus3.9
UterusCorpus4.5
WholeBlood5.3
Wholebrain4.05
colon4.9
pineal_day6.06
pineal_night5.92
retina5.875
small_intestine4.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_356_PI416408490
  • 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
Amygdala7.93 ± 0.37
Basal Forebrain7.78 ± 0.28
Basal Part of Pons7.42 ± 0.37
Cerebellar Cortex7.14 ± 0.22
Cerebellar Nuclei7.7 ± 0.21
Claustrum8.18 ± 0.64
Epithalamus8.3 ± 0.24
Frontal Lobe7.54 ± 0.42
Globus Pallidus8.68 ± 0.33
Hypothalamus7.69 ± 0.34
Insula7.49 ± 0.34
Limbic Lobe7.44 ± 0.55
Mesencephalon7.73 ± 0.42
Myelencephalon7.74 ± 0.39
Occipital Lobe8.04 ± 0.65
Parietal Lobe7.59 ± 0.41
Pontine Tegmentum7.65 ± 0.47
Striatum8.06 ± 0.33
Subthalamus7.46 ± 0.3
Temporal Lobe7.38 ± 0.37
Thalamus7.94 ± 0.32
White Matter7.76 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Itpr2CBCerebellum18.1
23.17
Itpr2CTXCerebral cortex13.98
9.98
Itpr2HIPHippocampal region16.38
15.74
Itpr2HPFHippocampal formation15.14
13.26
Itpr2HYHypothalamus3.2
2.54
Itpr2LSXLateral septal complex7.08
4.95
Itpr2MBMidbrain7.52
6.93
Itpr2MYMedulla13.57
12.91
Itpr2OLFOlfactory bulb13.01
10.18
Itpr2PPons6.72
7
Itpr2PALPallidum7.71
7.18
Itpr2RHPRetrohippocampal region12.84
9.74
Itpr2sAMYStriatum-like amygdalar nuclei5.45
3.78
Itpr2STRStriatum7.09
5.23
Itpr2STRdStriatum dorsal region7.74
5.89
Itpr2STRvStriatum ventral region5.95
3.9
Itpr2THThalamus10.16
8.09
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000692 14 1350 1363 ASFPILLHMMCSER 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