AutismKB 2.0

Annotation Detail for GAD2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GAD2 ( GAD65,MGC161605,MGC161607 )
Gene Full Name: glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
Band: 10p12.1
Quick LinksEntrez ID:2572; OMIM: 138275; Uniprot ID:DCE2_HUMAN; ENSEMBL ID: ENSG00000136750; HGNC ID: 4093
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 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult8 / 19391214
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 tumor9 / 26384534
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal77 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
brain22 / 110098919
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas78 / 214812363
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211264_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.15
Adipocyte11.55
AdrenalCortex19.15
Adrenalgland11.4
Amygdala11.15
Appendix22.8
AtrioventricularNode17.4
BDCA4+_DentriticCells9.45
Bonemarrow14.9
BronchialEpithelialCells10.9
CD105+_Endothelial11.2
CD14+_Monocytes13.55
CD19+_BCells(neg._sel.)11.55
CD33+_Myeloid13.3
CD34+12.5
CD4+_Tcells10.15
CD56+_NKCells12.3
CD71+_EarlyErythroid11.5
CD8+_Tcells8.8
CardiacMyocytes27.95
Caudatenucleus10.6
Cerebellum9.75
CerebellumPeduncles17.75
CiliaryGanglion17.5
CingulateCortex13.8
Colorectaladenocarcinoma11.45
DorsalRootGanglion16.65
FetalThyroid13.1
Fetalbrain11.05
Fetalliver10.5
Fetallung8
GlobusPallidus11.45
Heart27.55
Hypothalamus11.25
Kidney13
Leukemia_chronicMyelogenousK-56210.45
Leukemia_promyelocytic-HL-6010.2
Leukemialymphoblastic(MOLT-4)8.6
Liver24.55
Lung12.5
Lymphnode9.25
Lymphoma_burkitts(Daudi)16.2
Lymphoma_burkitts(Raji)20.95
MedullaOblongata13.35
OccipitalLobe10.25
OlfactoryBulb8.75
Ovary10.75
Pancreas12.15
PancreaticIslet12.95
ParietalLobe15.95
Pituitary13.85
Placenta10.5
Pons13.45
PrefrontalCortex12.75
Prostate12.7
Salivarygland10.4
SkeletalMuscle29.75
Skin17.05
SmoothMuscle13.15
Spinalcord12.15
SubthalamicNucleus12.15
SuperiorCervicalGanglion33.3
TemporalLobe11.7
Testis9.75
TestisGermCell8.75
TestisIntersitial10.5
TestisLeydigCell13.35
TestisSeminiferousTubule10.65
Thalamus12.55
Thymus8.1
Thyroid12.85
Tongue17.7
Tonsil11.95
Trachea9.5
TrigeminalGanglion23.7
Uterus8.5
UterusCorpus16.1
WholeBlood12
Wholebrain8.9
colon11
pineal_day13.26
pineal_night13.06
retina13.875
small_intestine10.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_350_PI417557136
  • 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
Amygdala8.97 ± 0.57
Basal Forebrain9.62 ± 0.81
Basal Part of Pons6.34 ± 0.41
Cerebellar Cortex7.95 ± 0.35
Cerebellar Nuclei9.8 ± 1
Claustrum7.56 ± 1.48
Epithalamus6.99 ± 1.06
Frontal Lobe8.87 ± 0.82
Globus Pallidus9.03 ± 0.98
Hypothalamus9.55 ± 1.11
Insula9.04 ± 0.35
Limbic Lobe8.1 ± 1.07
Mesencephalon9 ± 0.91
Myelencephalon8.56 ± 1.32
Occipital Lobe7.27 ± 1.35
Parietal Lobe8.76 ± 0.6
Pontine Tegmentum9.18 ± 0.79
Striatum10.32 ± 0.87
Subthalamus7.07 ± 0.99
Temporal Lobe8.71 ± 0.49
Thalamus8.98 ± 0.73
White Matter3.33 ± 0.64
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064493 13 474 486 CLELAEYLYNIIK 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