AutismKB 2.0

Annotation Detail for SHANK2


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Basic Information Top
Gene Symbol:SHANK2 ( AUTS17,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 2
Band: 11q13.3-q13.4
Quick LinksEntrez ID:22941; OMIM: 603290; Uniprot ID:SHAN2_HUMAN; ENSEMBL ID: ENSG00000162105; HGNC ID: 14295
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 body1 / 7076114
blastocyst1 / 6231916
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal71 / 336030721
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain30 / 110098927
cervix0 / 481710 
connective tissue2 / 14925513
ear2 / 16212123
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine1 / 2344724
kidney7 / 21177733
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213307_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.8
Adipocyte2.95
AdrenalCortex3.05
Adrenalgland2.5
Amygdala13.75
Appendix3.05
AtrioventricularNode2.25
BDCA4+_DentriticCells3.35
Bonemarrow2.9
BronchialEpithelialCells2.95
CD105+_Endothelial3.05
CD14+_Monocytes3.2
CD19+_BCells(neg._sel.)3.2
CD33+_Myeloid3.85
CD34+3.85
CD4+_Tcells3.25
CD56+_NKCells3.6
CD71+_EarlyErythroid2.8
CD8+_Tcells2.9
CardiacMyocytes3.7
Caudatenucleus2.7
Cerebellum4.25
CerebellumPeduncles3.4
CiliaryGanglion2.25
CingulateCortex6.85
Colorectaladenocarcinoma3
DorsalRootGanglion2.25
FetalThyroid2.95
Fetalbrain61.05
Fetalliver2.55
Fetallung2.55
GlobusPallidus2.3
Heart3.75
Hypothalamus3.7
Kidney2.4
Leukemia_chronicMyelogenousK-5622.75
Leukemia_promyelocytic-HL-602.65
Leukemialymphoblastic(MOLT-4)2.45
Liver3.95
Lung3.3
Lymphnode2.6
Lymphoma_burkitts(Daudi)3.85
Lymphoma_burkitts(Raji)4.2
MedullaOblongata3.1
OccipitalLobe4.65
OlfactoryBulb2.35
Ovary1.95
Pancreas2.4
PancreaticIslet3.25
ParietalLobe3.2
Pituitary3.5
Placenta3.15
Pons2.9
PrefrontalCortex94
Prostate3.55
Salivarygland2.45
SkeletalMuscle3.4
Skin2.25
SmoothMuscle3.4
Spinalcord3.2
SubthalamicNucleus3.15
SuperiorCervicalGanglion3.4
TemporalLobe4.4
Testis2.6
TestisGermCell2.5
TestisIntersitial2.5
TestisLeydigCell2.95
TestisSeminiferousTubule2.6
Thalamus3.05
Thymus2.4
Thyroid3.85
Tongue2.9
Tonsil2.9
Trachea2.5
TrigeminalGanglion2.95
Uterus2.5
UterusCorpus2.65
WholeBlood3.3
Wholebrain7.15
colon3.05
pineal_day3.8
pineal_night3.66
retina3.675
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14527_PI416261804
  • 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
Amygdala4.59 ± 0.78
Basal Forebrain3.67 ± 0.36
Basal Part of Pons3.8 ± 0.39
Cerebellar Cortex3.74 ± 0.65
Cerebellar Nuclei3.77 ± 0.59
Claustrum4.51 ± 0.8
Epithalamus3.64 ± 0.5
Frontal Lobe3.85 ± 0.62
Globus Pallidus3.53 ± 0.44
Hypothalamus3.41 ± 0.49
Insula4.18 ± 0.58
Limbic Lobe4.42 ± 0.51
Mesencephalon3.98 ± 0.68
Myelencephalon4.02 ± 0.65
Occipital Lobe4.26 ± 0.65
Parietal Lobe4.1 ± 0.58
Pontine Tegmentum4.05 ± 0.57
Striatum3.95 ± 0.64
Subthalamus3.95 ± 0.17
Temporal Lobe4.11 ± 0.56
Thalamus3.95 ± 0.58
White Matter3.75 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Shank2CBCerebellum100
100
Shank2CTXCerebral cortex100
100
Shank2HIPHippocampal region100
100
Shank2HPFHippocampal formation100
100
Shank2HYHypothalamus100
100
Shank2LSXLateral septal complex100
100
Shank2MBMidbrain100
100
Shank2MYMedulla100
100
Shank2OLFOlfactory bulb100
100
Shank2PPons100
100
Shank2PALPallidum100
100
Shank2RHPRetrohippocampal region100
100
Shank2sAMYStriatum-like amygdalar nuclei100
100
Shank2STRStriatum100
100
Shank2STRdStriatum dorsal region100
100
Shank2STRvStriatum ventral region100
100
Shank2THThalamus100
100
Peptide 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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