AutismKB 2.0

Annotation Detail for SLC23A2


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Basic Information Top
Gene Symbol:SLC23A2 ( KIAA0238,NBTL1,SLC23A1,SVCT2,YSPL2 )
Gene Full Name: solute carrier family 23 (nucleobase transporters), member 2
Band: 20p13
Quick LinksEntrez ID:9962; OMIM: 603791; Uniprot ID:S23A2_HUMAN; ENSEMBL ID: ENSG00000089057; HGNC ID: 10973
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 body5 / 7076170
blastocyst1 / 6231916
fetus51 / 56401290
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult144 / 193912174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma7 / 10688365
head and neck tumor6 / 13630244
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal244 / 336030772
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor11 / 12494988
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland8 / 33197240
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow1 / 4880120
brain105 / 110098995
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus1 / 2020949
eye38 / 211054180
heart3 / 8962633
intestine6 / 23447225
kidney6 / 21177728
larynx0 / 241450 
liver7 / 20774333
lung15 / 33697444
lymph0 / 442700 
lymph node3 / 9161032
mammary gland7 / 15327145
mouth2 / 6705229
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas12 / 21481255
parathyroid5 / 20539243
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta22 / 28082578
prostate2 / 18934510
salivary gland0 / 201550 
skin16 / 21057475
spleen3 / 5395255
stomach3 / 9661931
testis9 / 33044227
thymus2 / 8113124
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211572_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.6
Adipocyte3.6
AdrenalCortex3.8
Adrenalgland3.2
Amygdala4.1
Appendix3.75
AtrioventricularNode2.8
BDCA4+_DentriticCells4.15
Bonemarrow3.55
BronchialEpithelialCells3.55
CD105+_Endothelial3.7
CD14+_Monocytes3.9
CD19+_BCells(neg._sel.)3.9
CD33+_Myeloid4.75
CD34+4.65
CD4+_Tcells3.95
CD56+_NKCells4.35
CD71+_EarlyErythroid3.45
CD8+_Tcells3.5
CardiacMyocytes4.7
Caudatenucleus3.25
Cerebellum2.9
CerebellumPeduncles4.15
CiliaryGanglion2.55
CingulateCortex3.75
Colorectaladenocarcinoma3.65
DorsalRootGanglion2.9
FetalThyroid3.55
Fetalbrain3.65
Fetalliver3.1
Fetallung3
GlobusPallidus2.8
Heart4.95
Hypothalamus3.95
Kidney2.9
Leukemia_chronicMyelogenousK-5623.3
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)2.9
Liver4.85
Lung4
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.65
Lymphoma_burkitts(Raji)5.1
MedullaOblongata3.35
OccipitalLobe3.25
OlfactoryBulb2.85
Ovary2.55
Pancreas2.9
PancreaticIslet3.9
ParietalLobe3.85
Pituitary4.25
Placenta8.8
Pons3.45
PrefrontalCortex4.5
Prostate4.25
Salivarygland2.9
SkeletalMuscle4.5
Skin2.8
SmoothMuscle4.15
Spinalcord3.9
SubthalamicNucleus3.3
SuperiorCervicalGanglion4.6
TemporalLobe3.35
Testis3.1
TestisGermCell3.05
TestisIntersitial3.1
TestisLeydigCell3.7
TestisSeminiferousTubule3.1
Thalamus3.7
Thymus2.9
Thyroid4.6
Tongue3.6
Tonsil3.55
Trachea3
TrigeminalGanglion4
Uterus2.95
UterusCorpus3.25
WholeBlood4
Wholebrain3.05
colon3.7
pineal_day4.56
pineal_night4.48
retina4.45
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P6085
  • 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
Amygdala6.67 ± 0.35
Basal Forebrain6.84 ± 0.32
Basal Part of Pons7.24 ± 0.24
Cerebellar Cortex6.89 ± 0.35
Cerebellar Nuclei6.71 ± 0.65
Claustrum6.94 ± 0.5
Epithalamus6.69 ± 0.29
Frontal Lobe6.87 ± 0.39
Globus Pallidus6.59 ± 0.3
Hypothalamus6.8 ± 0.28
Insula6.88 ± 0.3
Limbic Lobe6.95 ± 0.47
Mesencephalon6.92 ± 0.45
Myelencephalon6.84 ± 0.44
Occipital Lobe7.26 ± 0.41
Parietal Lobe6.9 ± 0.35
Pontine Tegmentum6.84 ± 0.36
Striatum6.82 ± 0.39
Subthalamus6.52 ± 0.54
Temporal Lobe6.88 ± 0.35
Thalamus7.19 ± 0.33
White Matter6.46 ± 0.65
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc23a2LSXLateral septal complex100
77.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00074049 14 404 417 LSCAPPPPIHAINR 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