AutismKB 2.0

Annotation Detail for MSH2


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Basic Information Top
Gene Symbol:MSH2 ( COCA1,FCC1,HNPCC,HNPCC1,LCFS2 )
Gene Full Name: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
Band: 2p21-p16.3
Quick LinksEntrez ID:4436; OMIM: 609309; Uniprot ID:MSH2_HUMAN; ENSEMBL ID: ENSG00000095002; HGNC ID: 7325
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 body6 / 7076184
blastocyst24 / 62319385
fetus42 / 56401274
neonate1 / 3109732
infant0 / 236200 
juvenile6 / 55556107
adult100 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor63 / 263845238
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor15 / 96359155
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia5 / 9725051
normal184 / 336030754
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma7 / 46356151
skin tumor9 / 12494972
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone1 / 7165513
bone marrow2 / 4880140
brain61 / 110098955
cervix1 / 4817120
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue42 / 215722194
esophagus2 / 2020998
eye13 / 21105461
heart1 / 8962611
intestine12 / 23447251
kidney11 / 21177751
larynx0 / 241450 
liver16 / 20774377
lung6 / 33697417
lymph3 / 4427067
lymph node9 / 9161098
mammary gland2 / 15327113
mouth4 / 6705259
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta5 / 28082517
prostate1 / 1893455
salivary gland0 / 201550 
skin12 / 21057456
spleen1 / 5395218
stomach5 / 9661951
testis70 / 330442211
thymus18 / 81131221
thyroid0 / 474730 
tonsil2 / 16999117
trachea3 / 5241357
umbilical cord0 / 136800 
uterus5 / 23287821
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209421_at
Cell line Expression level Expression bar
721_B_lymphoblasts193.85
Adipocyte7.05
AdrenalCortex8.7
Adrenalgland6.4
Amygdala13.6
Appendix12.55
AtrioventricularNode6.95
BDCA4+_DentriticCells17
Bonemarrow8.05
BronchialEpithelialCells8.35
CD105+_Endothelial140.55
CD14+_Monocytes8.75
CD19+_BCells(neg._sel.)17.45
CD33+_Myeloid12.3
CD34+119.5
CD4+_Tcells20.65
CD56+_NKCells27.65
CD71+_EarlyErythroid131.5
CD8+_Tcells23.25
CardiacMyocytes16.55
Caudatenucleus7.15
Cerebellum5.85
CerebellumPeduncles9.6
CiliaryGanglion9.1
CingulateCortex7.95
Colorectaladenocarcinoma79.55
DorsalRootGanglion6.35
FetalThyroid7.65
Fetalbrain13.65
Fetalliver41.45
Fetallung5.8
GlobusPallidus6
Heart11.85
Hypothalamus18.95
Kidney6.9
Leukemia_chronicMyelogenousK-56247.7
Leukemia_promyelocytic-HL-6058.5
Leukemialymphoblastic(MOLT-4)72.9
Liver10.85
Lung7.65
Lymphnode6.5
Lymphoma_burkitts(Daudi)70.15
Lymphoma_burkitts(Raji)13.55
MedullaOblongata10.3
OccipitalLobe13.4
OlfactoryBulb5.85
Ovary5.7
Pancreas6.2
PancreaticIslet9.7
ParietalLobe12.95
Pituitary11.3
Placenta6.9
Pons10.65
PrefrontalCortex15.45
Prostate7.9
Salivarygland6.45
SkeletalMuscle10.5
Skin7.1
SmoothMuscle8.55
Spinalcord8.7
SubthalamicNucleus7.7
SuperiorCervicalGanglion30.85
TemporalLobe7.35
Testis6
TestisGermCell10.9
TestisIntersitial9.8
TestisLeydigCell13.65
TestisSeminiferousTubule7.1
Thalamus8.7
Thymus5.7
Thyroid13.7
Tongue10.2
Tonsil14.65
Trachea6.65
TrigeminalGanglion8.55
Uterus7.6
UterusCorpus7.15
WholeBlood10.35
Wholebrain8.1
colon8.9
pineal_day79.46
pineal_night60.42
retina9.025
small_intestine7.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15829_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
Amygdala8.58 ± 0.15
Basal Forebrain8.45 ± 0.25
Basal Part of Pons8.48 ± 0.25
Cerebellar Cortex8.49 ± 0.17
Cerebellar Nuclei8.52 ± 0.25
Claustrum8.66 ± 0.18
Epithalamus8.29 ± 0.22
Frontal Lobe8.36 ± 0.21
Globus Pallidus8.33 ± 0.11
Hypothalamus8.42 ± 0.21
Insula8.31 ± 0.18
Limbic Lobe8.48 ± 0.21
Mesencephalon8.49 ± 0.25
Myelencephalon8.4 ± 0.21
Occipital Lobe8.61 ± 0.18
Parietal Lobe8.45 ± 0.19
Pontine Tegmentum8.45 ± 0.21
Striatum8.77 ± 0.23
Subthalamus8.62 ± 0.11
Temporal Lobe8.39 ± 0.18
Thalamus8.27 ± 0.18
White Matter8.6 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Msh2CBCerebellum15.22
17.82
Msh2CTXCerebral cortex32.59
25.71
Msh2HIPHippocampal region18.9
23.05
Msh2HPFHippocampal formation22.02
22.41
Msh2HYHypothalamus18.57
16.03
Msh2LSXLateral septal complex10.59
7.93
Msh2MBMidbrain20.54
20.91
Msh2MYMedulla27.56
36.47
Msh2OLFOlfactory bulb23.28
19.63
Msh2PPons22.35
26.31
Msh2PALPallidum17.4
17.53
Msh2RHPRetrohippocampal region26.23
21.6
Msh2sAMYStriatum-like amygdalar nuclei21.97
18.23
Msh2STRStriatum8.66
7.03
Msh2STRdStriatum dorsal region6.12
5.11
Msh2STRvStriatum ventral region8.99
6.34
Msh2THThalamus26.1
23.91
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MSH2_HUMAN_22 14 22 35 FFQGMPEKPTTTVR PRIDE
MSH2_HUMAN_738 15 738 752 SATKDSLIIIDELGR PRIDE
PAp00004322 20 819 838 KGVCDQSFGIHVAELANFPK 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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