AutismKB 2.0

Annotation Detail for SLC6A2


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Basic Information Top
Gene Symbol:SLC6A2 ( NAT1,NET,NET1,SLC6A5 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
Band: 16q12.2
Quick LinksEntrez ID:6530; OMIM: 163970; Uniprot ID:SC6A2_HUMAN; ENSEMBL ID: ENSG00000103546; HGNC ID: 11048
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 
fetus3 / 5640125
neonate0 / 310970 
infant1 / 2362042
juvenile7 / 55556125
adult44 / 193912122
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal57 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS22 / 125680175
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
brain17 / 110098915
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx2 / 2414582
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve5 / 15768317
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta35 / 280825124
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis16 / 33044248
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210353_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.8
Adipocyte3.8
AdrenalCortex4.1
Adrenalgland3.2
Amygdala4
Appendix3.9
AtrioventricularNode3
BDCA4+_DentriticCells4.2
Bonemarrow3.8
BronchialEpithelialCells3.75
CD105+_Endothelial3.9
CD14+_Monocytes4.1
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.9
CD34+4.85
CD4+_Tcells4.15
CD56+_NKCells4.6
CD71+_EarlyErythroid3.6
CD8+_Tcells3.7
CardiacMyocytes5
Caudatenucleus3.45
Cerebellum3.1
CerebellumPeduncles4.55
CiliaryGanglion2.7
CingulateCortex3.9
Colorectaladenocarcinoma3.8
DorsalRootGanglion3
FetalThyroid3.7
Fetalbrain3.8
Fetalliver3.3
Fetallung3.15
GlobusPallidus2.85
Heart5.25
Hypothalamus4.15
Kidney3.15
Leukemia_chronicMyelogenousK-5623.45
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.1
Liver5.1
Lung4.2
Lymphnode3.3
Lymphoma_burkitts(Daudi)4.95
Lymphoma_burkitts(Raji)5.45
MedullaOblongata3.45
OccipitalLobe3.45
OlfactoryBulb3
Ovary2.55
Pancreas3.1
PancreaticIslet4.05
ParietalLobe4.05
Pituitary4.45
Placenta73.05
Pons3.6
PrefrontalCortex4.75
Prostate4.45
Salivarygland3.1
SkeletalMuscle4.8
Skin3
SmoothMuscle4.35
Spinalcord4.1
SubthalamicNucleus3.5
SuperiorCervicalGanglion4.65
TemporalLobe3.65
Testis3.3
TestisGermCell3.2
TestisIntersitial3.25
TestisLeydigCell3.8
TestisSeminiferousTubule3.25
Thalamus3.9
Thymus3
Thyroid4.75
Tongue3.75
Tonsil3.7
Trachea3.2
TrigeminalGanglion4
Uterus3.1
UterusCorpus3.45
WholeBlood4.2
Wholebrain3.25
colon3.85
pineal_day4.78
pineal_night4.7
retina4.625
small_intestine3.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16472_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
Amygdala2.11 ± 1.1
Basal Forebrain1.54 ± 0.22
Basal Part of Pons1.31 ± 0.44
Cerebellar Cortex1.58 ± 0.91
Cerebellar Nuclei2.09 ± 0.86
Claustrum2.59 ± 1.02
Epithalamus1.26 ± 0.76
Frontal Lobe1.53 ± 0.84
Globus Pallidus2.16 ± 0.37
Hypothalamus1.71 ± 0.76
Insula1.32 ± 0.48
Limbic Lobe1.72 ± 0.77
Mesencephalon1.62 ± 0.69
Myelencephalon1.62 ± 0.7
Occipital Lobe1.7 ± 0.72
Parietal Lobe1.65 ± 0.67
Pontine Tegmentum2.02 ± 0.93
Striatum1.82 ± 0.72
Subthalamus1.7 ± 0.71
Temporal Lobe1.55 ± 0.62
Thalamus1.59 ± 0.68
White Matter2.38 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc6a2CBCerebellum2.68
3.27
Slc6a2CTXCerebral cortex0.54
0.86
Slc6a2HIPHippocampal region0.51
0.6
Slc6a2HPFHippocampal formation0.55
0.57
Slc6a2HYHypothalamus0.16
0.31
Slc6a2LSXLateral septal complex0.19
0.36
Slc6a2MBMidbrain0.49
0.88
Slc6a2MYMedulla1.83
2.43
Slc6a2OLFOlfactory bulb0.87
1.58
Slc6a2PPons2.63
7.31
Slc6a2PALPallidum0.11
0.11
Slc6a2RHPRetrohippocampal region0.52
0.45
Slc6a2sAMYStriatum-like amygdalar nuclei0.08
0.13
Slc6a2STRStriatum0.19
0.21
Slc6a2STRdStriatum dorsal region0.18
0.22
Slc6a2STRvStriatum ventral region0.26
0.17
Slc6a2THThalamus0.37
0.5
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00878371 7 82 88 FPYLCYK Peptide Atlas
SC6A2_HUMAN_29 11 29 39 KTAELLVVKER 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