AutismKB 2.0

Annotation Detail for CD2BP2


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Basic Information Top
Gene Symbol:CD2BP2 ( FWP010,LIN1,Snu40,U5-52K )
Gene Full Name: CD2 (cytoplasmic tail) binding protein 2
Band: 16p11.2
Quick LinksEntrez ID:10421; OMIM: 604470; Uniprot ID:CD2B2_HUMAN; ENSEMBL ID: ENSG00000169217; HGNC ID: 1656
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 body9 / 70761127
blastocyst5 / 6231980
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult108 / 193912155
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor12 / 26384545
glioma16 / 106883149
head and neck tumor11 / 13630280
kidney tumor6 / 6895987
leukemia5 / 9584252
liver tumor5 / 9635951
lung tumor18 / 103127174
lymphoma14 / 71755195
non-neoplasia4 / 9725041
normal157 / 336030746
ovarian tumor7 / 7668291
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS26 / 125680206
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor10 / 12494980
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites2 / 4001549
bladder0 / 297570 
blood3 / 12347824
bone8 / 71655111
bone marrow1 / 4880120
brain57 / 110098951
cervix5 / 48171103
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue22 / 215722101
esophagus0 / 202090 
eye19 / 21105490
heart2 / 8962622
intestine13 / 23447255
kidney12 / 21177756
larynx0 / 241450 
liver8 / 20774338
lung44 / 336974130
lymph12 / 44270271
lymph node9 / 9161098
mammary gland10 / 15327165
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary12 / 102051117
pancreas26 / 214812121
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta12 / 28082542
prostate6 / 18934531
salivary gland5 / 20155248
skin12 / 21057456
spleen1 / 5395218
stomach7 / 9661972
testis7 / 33044221
thymus1 / 8113112
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus27 / 232878115
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202257_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts55.2
Adipocyte9.4
AdrenalCortex9.8
Adrenalgland13
Amygdala5.95
Appendix6.45
AtrioventricularNode3.65
BDCA4+_DentriticCells79.65
Bonemarrow17.9
BronchialEpithelialCells17
CD105+_Endothelial16.75
CD14+_Monocytes54.75
CD19+_BCells(neg._sel.)58.55
CD33+_Myeloid39.55
CD34+20.8
CD4+_Tcells16.15
CD56+_NKCells191.6
CD71+_EarlyErythroid17.6
CD8+_Tcells15.6
CardiacMyocytes19.95
Caudatenucleus8.05
Cerebellum7.15
CerebellumPeduncles10.45
CiliaryGanglion4
CingulateCortex8.1
Colorectaladenocarcinoma8.95
DorsalRootGanglion4.3
FetalThyroid17.05
Fetalbrain7.1
Fetalliver6.25
Fetallung10.95
GlobusPallidus6.7
Heart36.15
Hypothalamus10.6
Kidney7.4
Leukemia_chronicMyelogenousK-5627.95
Leukemia_promyelocytic-HL-6010.3
Leukemialymphoblastic(MOLT-4)13.75
Liver10.6
Lung15.2
Lymphnode8.7
Lymphoma_burkitts(Daudi)26.65
Lymphoma_burkitts(Raji)11.2
MedullaOblongata6.3
OccipitalLobe6.65
OlfactoryBulb5.2
Ovary4.5
Pancreas6.05
PancreaticIslet14.65
ParietalLobe7.65
Pituitary21
Placenta14.5
Pons8.3
PrefrontalCortex8.25
Prostate13.9
Salivarygland6.35
SkeletalMuscle10.25
Skin4.25
SmoothMuscle25.3
Spinalcord11.15
SubthalamicNucleus9.7
SuperiorCervicalGanglion5.85
TemporalLobe7.35
Testis8.05
TestisGermCell7.4
TestisIntersitial4.85
TestisLeydigCell8
TestisSeminiferousTubule7.2
Thalamus10.45
Thymus23.35
Thyroid34.6
Tongue7.75
Tonsil9.05
Trachea6.3
TrigeminalGanglion7.8
Uterus8
UterusCorpus6.85
WholeBlood21.65
Wholebrain9.75
colon8.8
pineal_day15.8
pineal_night12.92
retina16.45
small_intestine12.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P61551
  • 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
Amygdala4.51 ± 0.52
Basal Forebrain4.35 ± 0.39
Basal Part of Pons4.39 ± 0.58
Cerebellar Cortex4.49 ± 0.6
Cerebellar Nuclei4.21 ± 0.52
Claustrum3.94 ± 0.81
Epithalamus4.61 ± 0.68
Frontal Lobe4.52 ± 0.5
Globus Pallidus4.12 ± 0.69
Hypothalamus4.44 ± 0.58
Insula4.69 ± 0.46
Limbic Lobe4.39 ± 0.56
Mesencephalon4.43 ± 0.57
Myelencephalon4.31 ± 0.55
Occipital Lobe3.92 ± 0.57
Parietal Lobe4.27 ± 0.5
Pontine Tegmentum4.33 ± 0.49
Striatum4.23 ± 0.64
Subthalamus4.29 ± 0.35
Temporal Lobe4.46 ± 0.53
Thalamus4.23 ± 0.52
White Matter4.94 ± 0.29
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00495596 18 45 62 HSLDSDEEEDDDDGGSSK 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