AutismKB 2.0

Annotation Detail for SMC2


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Basic Information Top
Gene Symbol:SMC2 ( CAP-E,CAPE,FLJ10093,SMC2L1,hCAP-E )
Gene Full Name: structural maintenance of chromosomes 2
Band: 9q31.1
Quick LinksEntrez ID:10592; OMIM: 605576; Uniprot ID:SMC2_HUMAN; ENSEMBL ID: ENSG00000136824; HGNC ID: 14011
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 body7 / 7076198
blastocyst3 / 6231948
fetus27 / 56401247
neonate1 / 3109732
infant2 / 2362084
juvenile4 / 5555671
adult42 / 193912121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma5 / 17475286
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor16 / 26384560
glioma7 / 10688365
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia11 / 95842114
liver tumor6 / 9635962
lung tumor4 / 10312738
lymphoma5 / 7175569
non-neoplasia0 / 972500 
normal109 / 336030732
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites4 / 4001599
bladder6 / 29757201
blood11 / 12347889
bone3 / 7165541
bone marrow7 / 48801143
brain19 / 110098917
cervix1 / 4817120
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue18 / 21572283
esophagus2 / 2020998
eye0 / 2110540 
heart2 / 8962622
intestine3 / 23447212
kidney11 / 21177751
larynx1 / 2414541
liver19 / 20774391
lung12 / 33697435
lymph2 / 4427045
lymph node18 / 91610196
mammary gland8 / 15327152
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary4 / 10205139
pancreas2 / 2148129
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta4 / 28082514
prostate2 / 18934510
salivary gland5 / 20155248
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis17 / 33044251
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204240_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts148.5
Adipocyte3.95
AdrenalCortex4.25
Adrenalgland3.4
Amygdala4.25
Appendix4.05
AtrioventricularNode3.1
BDCA4+_DentriticCells5.95
Bonemarrow3.9
BronchialEpithelialCells4
CD105+_Endothelial77.45
CD14+_Monocytes4.25
CD19+_BCells(neg._sel.)4.35
CD33+_Myeloid5.3
CD34+35.5
CD4+_Tcells4.4
CD56+_NKCells5.35
CD71+_EarlyErythroid141.65
CD8+_Tcells3.95
CardiacMyocytes6.6
Caudatenucleus3.6
Cerebellum3.25
CerebellumPeduncles4.55
CiliaryGanglion2.85
CingulateCortex4.1
Colorectaladenocarcinoma4.4
DorsalRootGanglion3.1
FetalThyroid3.9
Fetalbrain4.05
Fetalliver7.95
Fetallung3.4
GlobusPallidus2.95
Heart5.2
Hypothalamus4.4
Kidney3.35
Leukemia_chronicMyelogenousK-5628.6
Leukemia_promyelocytic-HL-6021.7
Leukemialymphoblastic(MOLT-4)48.6
Liver5.3
Lung4.45
Lymphnode3.45
Lymphoma_burkitts(Daudi)24.35
Lymphoma_burkitts(Raji)5.65
MedullaOblongata3.65
OccipitalLobe3.6
OlfactoryBulb3.15
Ovary2.65
Pancreas3.2
PancreaticIslet4.35
ParietalLobe4.25
Pituitary4.7
Placenta4.15
Pons3.8
PrefrontalCortex5.05
Prostate4.7
Salivarygland3.2
SkeletalMuscle4.75
Skin3.1
SmoothMuscle4.6
Spinalcord4.3
SubthalamicNucleus3.7
SuperiorCervicalGanglion4.6
TemporalLobe3.65
Testis3.4
TestisGermCell3.9
TestisIntersitial3.55
TestisLeydigCell4.1
TestisSeminiferousTubule3.45
Thalamus4.1
Thymus3.2
Thyroid4.95
Tongue3.9
Tonsil4.2
Trachea3.4
TrigeminalGanglion4
Uterus3.2
UterusCorpus3.55
WholeBlood4.25
Wholebrain3.4
colon4.05
pineal_day5.06
pineal_night4.96
retina4.8
small_intestine3.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8562_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
Amygdala4.84 ± 0.57
Basal Forebrain4.51 ± 0.45
Basal Part of Pons5.46 ± 0.44
Cerebellar Cortex5.06 ± 0.32
Cerebellar Nuclei5.94 ± 0.44
Claustrum4.77 ± 0.65
Epithalamus5.32 ± 1.47
Frontal Lobe4.98 ± 0.49
Globus Pallidus5.76 ± 0.29
Hypothalamus5.12 ± 0.31
Insula4.68 ± 0.47
Limbic Lobe4.83 ± 0.54
Mesencephalon5.01 ± 0.57
Myelencephalon5.07 ± 0.58
Occipital Lobe5.36 ± 0.42
Parietal Lobe5.16 ± 0.5
Pontine Tegmentum4.95 ± 0.57
Striatum4.44 ± 0.69
Subthalamus5.34 ± 0.71
Temporal Lobe4.99 ± 0.6
Thalamus5.17 ± 0.35
White Matter5.97 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smc2CBCerebellum0.93
1.27
Smc2CTXCerebral cortex2.38
2.28
Smc2HIPHippocampal region1.96
1.56
Smc2HPFHippocampal formation1.76
1.3
Smc2HYHypothalamus0.36
0.65
Smc2LSXLateral septal complex0.26
1.11
Smc2MBMidbrain0.68
0.82
Smc2MYMedulla0.96
1.1
Smc2OLFOlfactory bulb1.34
1.18
Smc2PPons0.62
0.77
Smc2PALPallidum0.21
0.2
Smc2RHPRetrohippocampal region1.4
0.91
Smc2sAMYStriatum-like amygdalar nuclei0.25
0.17
Smc2STRStriatum0.76
1.25
Smc2STRdStriatum dorsal region0.96
1.75
Smc2STRvStriatum ventral region0.36
0.26
Smc2THThalamus0.47
0.44
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000714 13 77 89 ASVSITFDNSDKK Peptide Atlas
SMC2_HUMAN_215 11 215 225 SSYLEYQKVMR PRIDE
SMC2_HUMAN_456 10 456 465 LKEKLEAEMK PRIDE
SMC2_HUMAN_816 16 816 831 QQEVEAITLELEELKR PRIDE

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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