AutismKB 2.0

Annotation Detail for DSG2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DSG2 ( ARVC10,ARVD10,CDHF5,CMD1BB,HDGC,MGC117034,MGC117036,MGC117037 )
Gene Full Name: desmoglein 2
Band: 18q12.1
Quick LinksEntrez ID:1829; OMIM: 125671; Uniprot ID:DSG2_HUMAN; ENSEMBL ID: ENSG00000046604; HGNC ID: 3049
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 body24 / 70761339
blastocyst15 / 62319240
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile5 / 5555689
adult167 / 193912186
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor7 / 9417874
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor25 / 114246218
esophageal tumor8 / 17290462
gastrointestinal tumor12 / 119369100
germ cell tumor23 / 26384587
glioma1 / 1068839
head and neck tumor28 / 136302205
kidney tumor13 / 68959188
leukemia3 / 9584231
liver tumor8 / 9635983
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal149 / 336030744
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites6 / 40015149
bladder4 / 29757134
blood0 / 1234780 
bone1 / 7165513
bone marrow3 / 4880161
brain8 / 11009897
cervix2 / 4817141
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue45 / 215722208
esophagus8 / 20209395
eye5 / 21105423
heart2 / 8962622
intestine37 / 234472157
kidney29 / 211777136
larynx2 / 2414582
liver10 / 20774348
lung16 / 33697447
lymph0 / 442700 
lymph node0 / 916100 
mammary gland26 / 153271169
mouth23 / 67052343
muscle11 / 107715102
nerve1 / 1576863
ovary3 / 10205129
pancreas17 / 21481279
parathyroid5 / 20539243
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta24 / 28082585
prostate13 / 18934568
salivary gland9 / 20155446
skin7 / 21057433
spleen0 / 539520 
stomach6 / 9661962
testis13 / 33044239
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord0 / 136800 
uterus14 / 23287860
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217901_at
Cell line Expression level Expression bar
721_B_lymphoblasts210.4
Adipocyte9.3
AdrenalCortex14.5
Adrenalgland8.6
Amygdala8.8
Appendix13.5
AtrioventricularNode9.65
BDCA4+_DentriticCells9.3
Bonemarrow11.3
BronchialEpithelialCells964.5
CD105+_Endothelial10.95
CD14+_Monocytes9.8
CD19+_BCells(neg._sel.)9.8
CD33+_Myeloid11.85
CD34+30.1
CD4+_Tcells8.8
CD56+_NKCells10.1
CD71+_EarlyErythroid9
CD8+_Tcells8.2
CardiacMyocytes24.6
Caudatenucleus8.3
Cerebellum7.75
CerebellumPeduncles10.95
CiliaryGanglion10.45
CingulateCortex9.65
Colorectaladenocarcinoma13.5
DorsalRootGanglion10
FetalThyroid123.15
Fetalbrain8.8
Fetalliver22.1
Fetallung19.15
GlobusPallidus8
Heart19.55
Hypothalamus9.35
Kidney16.9
Leukemia_chronicMyelogenousK-562149.55
Leukemia_promyelocytic-HL-608.45
Leukemialymphoblastic(MOLT-4)75.65
Liver16.4
Lung11.15
Lymphnode7.95
Lymphoma_burkitts(Daudi)13
Lymphoma_burkitts(Raji)14
MedullaOblongata8.7
OccipitalLobe8.3
OlfactoryBulb7.4
Ovary8.45
Pancreas317.15
PancreaticIslet68.65
ParietalLobe11.65
Pituitary11.1
Placenta75.5
Pons9.3
PrefrontalCortex11.4
Prostate144.55
Salivarygland130.4
SkeletalMuscle19.3
Skin15.15
SmoothMuscle10.9
Spinalcord10.05
SubthalamicNucleus12.35
SuperiorCervicalGanglion19.3
TemporalLobe8.95
Testis8.15
TestisGermCell8.1
TestisIntersitial8.3
TestisLeydigCell10.55
TestisSeminiferousTubule8.3
Thalamus10.1
Thymus19
Thyroid394.3
Tongue12.95
Tonsil10.35
Trachea40.95
TrigeminalGanglion14.65
Uterus7.95
UterusCorpus15.1
WholeBlood9.7
Wholebrain7.3
colon956.05
pineal_day11.3
pineal_night11.52
retina12.1
small_intestine361.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P97315
  • 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
Amygdala2.1 ± 1.02
Basal Forebrain1.64 ± 0.27
Basal Part of Pons1.29 ± 0.34
Cerebellar Cortex1.48 ± 0.81
Cerebellar Nuclei1.89 ± 0.76
Claustrum2.57 ± 0.91
Epithalamus1.39 ± 0.78
Frontal Lobe1.48 ± 0.62
Globus Pallidus2.24 ± 0.36
Hypothalamus1.72 ± 0.73
Insula1.51 ± 0.51
Limbic Lobe1.62 ± 0.63
Mesencephalon1.78 ± 0.67
Myelencephalon1.65 ± 0.67
Occipital Lobe1.64 ± 0.59
Parietal Lobe1.59 ± 0.64
Pontine Tegmentum1.7 ± 0.76
Striatum1.79 ± 0.51
Subthalamus1.81 ± 0.69
Temporal Lobe1.55 ± 0.69
Thalamus1.62 ± 0.71
White Matter2.25 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dsg2CBCerebellum1.08
1.79
Dsg2CTXCerebral cortex0.84
0.96
Dsg2HIPHippocampal region1.76
2.23
Dsg2HPFHippocampal formation1.36
1.46
Dsg2HYHypothalamus0.27
0.41
Dsg2LSXLateral septal complex0.79
0.91
Dsg2MBMidbrain0.22
0.37
Dsg2MYMedulla3.67
5.61
Dsg2OLFOlfactory bulb1.12
0.99
Dsg2PPons0.34
0.42
Dsg2PALPallidum0.36
0.33
Dsg2RHPRetrohippocampal region0.87
0.64
Dsg2sAMYStriatum-like amygdalar nuclei0.42
0.33
Dsg2STRStriatum0.65
0.91
Dsg2STRdStriatum dorsal region0.64
1.07
Dsg2STRvStriatum ventral region0.76
0.67
Dsg2THThalamus0.94
1.27
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DSG2_HUMAN_990 27 990 1016 VIQPHGGGSNPLEGTQHLQDVPYVMVR PRIDE
PAp00093662 11 347 357 NLDFSVIVANK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved