AutismKB 2.0

Annotation Detail for SH2B2


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Basic Information Top
Gene Symbol:SH2B2 ( APS )
Gene Full Name: SH2B adaptor protein 2
Band: 7q22.1
Quick LinksEntrez ID:10603; OMIM: 605300; Uniprot ID:SH2B2_HUMAN; ENSEMBL ID: ENSG00000160999; HGNC ID: 17381
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 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult7 / 19391213
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma10 / 71755139
non-neoplasia0 / 972500 
normal31 / 33603079
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor0 / 902570 
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 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph10 / 44270225
lymph node14 / 91610152
mammary gland1 / 1532716
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland1 / 2015549
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P59507
  • 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
Amygdala4.8 ± 0.4
Basal Forebrain4.84 ± 0.45
Basal Part of Pons4.78 ± 0.31
Cerebellar Cortex4.99 ± 0.37
Cerebellar Nuclei5.08 ± 0.34
Claustrum4.89 ± 0.7
Epithalamus4.35 ± 0.7
Frontal Lobe4.96 ± 0.51
Globus Pallidus5.2 ± 0.51
Hypothalamus5.25 ± 0.6
Insula4.9 ± 0.22
Limbic Lobe4.77 ± 0.54
Mesencephalon5.18 ± 0.59
Myelencephalon5.03 ± 0.61
Occipital Lobe4.93 ± 0.63
Parietal Lobe4.89 ± 0.55
Pontine Tegmentum4.87 ± 0.44
Striatum5.06 ± 0.63
Subthalamus4.88 ± 0.38
Temporal Lobe4.88 ± 0.53
Thalamus5.28 ± 0.53
White Matter3.77 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sh2b2CBCerebellum6.66
7.55
Sh2b2CTXCerebral cortex7.45
5.24
Sh2b2HIPHippocampal region1.56
1.43
Sh2b2HPFHippocampal formation1.87
1.49
Sh2b2HYHypothalamus1.38
0.94
Sh2b2LSXLateral septal complex0.63
0.57
Sh2b2MBMidbrain2.46
2.19
Sh2b2MYMedulla4.73
4.49
Sh2b2OLFOlfactory bulb8.08
6.32
Sh2b2PPons2.86
2.65
Sh2b2PALPallidum3.79
3.06
Sh2b2RHPRetrohippocampal region2.43
1.6
Sh2b2sAMYStriatum-like amygdalar nuclei3.36
2.24
Sh2b2STRStriatum2.02
1.52
Sh2b2STRdStriatum dorsal region1.11
0.91
Sh2b2STRvStriatum ventral region5.13
3.51
Sh2b2THThalamus1.53
1.26
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