AutismKB 2.0

Annotation Detail for ITGB2


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Basic Information Top
Gene Symbol:ITGB2 ( CD18,LAD,LCAMB,LFA-1,MAC-1,MF17,MFI7 )
Gene Full Name: integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
Band: 21q22.3
Quick LinksEntrez ID:3689; OMIM: 600065; Uniprot ID:ITB2_HUMAN; ENSEMBL ID: ENSG00000160255; HGNC ID: 6155
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 body0 / 707610 
blastocyst0 / 623190 
fetus23 / 56401240
neonate41 / 310971318
infant1 / 2362042
juvenile6 / 55556107
adult165 / 193912185
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor10 / 26384537
glioma2 / 10688318
head and neck tumor10 / 13630273
kidney tumor6 / 6895987
leukemia105 / 958421095
liver tumor0 / 963590 
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia38 / 97250390
normal610 / 3360307181
ovarian tumor3 / 7668239
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer10 / 10268097
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood167 / 1234781352
bone7 / 7165597
bone marrow5 / 48801102
brain66 / 110098959
cervix5 / 48171103
connective tissue42 / 149255281
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye2 / 2110549
heart4 / 8962644
intestine11 / 23447246
kidney17 / 21177780
larynx0 / 241450 
liver2 / 2077439
lung39 / 336974115
lymph0 / 442700 
lymph node13 / 91610141
mammary gland7 / 15327145
mouth11 / 67052164
muscle13 / 107715120
nerve1 / 1576863
ovary3 / 10205129
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta39 / 280825138
prostate23 / 189345121
salivary gland0 / 201550 
skin0 / 2105740 
spleen131 / 539522428
stomach3 / 9661931
testis7 / 33044221
thymus201 / 811312477
thyroid5 / 47473105
tonsil8 / 16999470
trachea3 / 5241357
umbilical cord0 / 136800 
uterus22 / 23287894
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202803_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts188.85
Adipocyte5.2
AdrenalCortex6.1
Adrenalgland5.85
Amygdala6.55
Appendix6.7
AtrioventricularNode5
BDCA4+_DentriticCells1076.75
Bonemarrow291.3
BronchialEpithelialCells5.2
CD105+_Endothelial70.9
CD14+_Monocytes2699.05
CD19+_BCells(neg._sel.)329
CD33+_Myeloid4085.85
CD34+404.1
CD4+_Tcells733.8
CD56+_NKCells3239.6
CD71+_EarlyErythroid7.15
CD8+_Tcells728.55
CardiacMyocytes7.45
Caudatenucleus6
Cerebellum4.8
CerebellumPeduncles6.65
CiliaryGanglion5.15
CingulateCortex6.45
Colorectaladenocarcinoma5.3
DorsalRootGanglion4.95
FetalThyroid6.1
Fetalbrain5.75
Fetalliver5.35
Fetallung40.95
GlobusPallidus4.8
Heart37.6
Hypothalamus21.65
Kidney5.1
Leukemia_chronicMyelogenousK-5625.05
Leukemia_promyelocytic-HL-604.65
Leukemialymphoblastic(MOLT-4)77.85
Liver8.65
Lung425.95
Lymphnode228.2
Lymphoma_burkitts(Daudi)8.4
Lymphoma_burkitts(Raji)197.05
MedullaOblongata6.05
OccipitalLobe5.85
OlfactoryBulb27.85
Ovary4.6
Pancreas5.2
PancreaticIslet15.2
ParietalLobe5.75
Pituitary7.45
Placenta67
Pons6.35
PrefrontalCortex8.55
Prostate8
Salivarygland5.3
SkeletalMuscle7.55
Skin5.85
SmoothMuscle6
Spinalcord16.85
SubthalamicNucleus6
SuperiorCervicalGanglion7.35
TemporalLobe6
Testis5.35
TestisGermCell4.6
TestisIntersitial5.35
TestisLeydigCell5.65
TestisSeminiferousTubule5.3
Thalamus6.85
Thymus234.3
Thyroid8.5
Tongue6.2
Tonsil183.3
Trachea6.4
TrigeminalGanglion6.9
Uterus5.25
UterusCorpus5.7
WholeBlood2694.1
Wholebrain5.55
colon6.5
pineal_day8.98
pineal_night7.3
retina15.875
small_intestine7.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P329573
  • 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
Amygdala3.95 ± 0.93
Basal Forebrain3.84 ± 0.88
Basal Part of Pons5.17 ± 0.59
Cerebellar Cortex3.06 ± 0.55
Cerebellar Nuclei6.03 ± 0.46
Claustrum3.24 ± 0.9
Epithalamus5.73 ± 0.69
Frontal Lobe3.92 ± 1.05
Globus Pallidus6.1 ± 0.31
Hypothalamus3.9 ± 1.78
Insula4.39 ± 0.71
Limbic Lobe3.38 ± 0.86
Mesencephalon3.9 ± 1.05
Myelencephalon3.96 ± 1.04
Occipital Lobe2.92 ± 1.13
Parietal Lobe3.88 ± 0.83
Pontine Tegmentum3.74 ± 0.83
Striatum5.43 ± 0.66
Subthalamus4.85 ± 0.3
Temporal Lobe4.09 ± 0.76
Thalamus3.97 ± 0.68
White Matter5.56 ± 0.61
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ITB2_HUMAN_0 0 0 0 IGFGSFVDK PRIDE
ITB2_HUMAN_0 0 0 0 LAENNIQPIFAVTSR PRIDE
ITB2_HUMAN_165 23 165 187 IGFGSFVDKTVLPFVNTHPDKLR PRIDE
ITB2_HUMAN_165 9 165 173 IGFGSFVDK PRIDE
ITB2_HUMAN_257 17 257 273 LLVFATDDGFHFAGDGK PRIDE
ITB2_HUMAN_274 11 274 284 LGAILTPNDGR PRIDE
ITB2_HUMAN_295 15 295 309 SNEFDYPSVGQLAHK PRIDE
ITB2_HUMAN_310 15 310 324 LAENNIQPIFAVTSR PRIDE
ITB2_HUMAN_332 7 332 338 LTEIIPK PRIDE
ITB2_HUMAN_366 13 366 378 VFLDHNALPDTLK PRIDE
ITB2_HUMAN_397 17 397 413 GDCDGVQINVPITFQVK PRIDE
ITB2_HUMAN_624 9 624 632 YISCAECLK PRIDE
ITB2_HUMAN_744 11 744 754 SQWNNDNPLFK PRIDE
PAp00002683 25 72 96 GCAADDIMDPTSLAETQEDHNGGQK 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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