AutismKB 2.0

Annotation Detail for CACNA2D3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CACNA2D3 ( HSA272268 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 3
Band: 3p21.1-p14.3
Quick LinksEntrez ID:55799; OMIM: 606399; Uniprot ID:CA2D3_HUMAN; ENSEMBL ID: ENSG00000157445; HGNC ID: 15460
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 
blastocyst1 / 6231916
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult45 / 193912123
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 tumor6 / 26384522
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal71 / 336030721
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor2 / 9025722
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 
bone2 / 7165527
bone marrow0 / 488010 
brain45 / 110098940
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis13 / 33044239
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219714_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.85
Adipocyte7.05
AdrenalCortex7.65
Adrenalgland6.05
Amygdala22.4
Appendix7.3
AtrioventricularNode6.7
BDCA4+_DentriticCells86.75
Bonemarrow7.15
BronchialEpithelialCells6.5
CD105+_Endothelial7.4
CD14+_Monocytes244.95
CD19+_BCells(neg._sel.)7.2
CD33+_Myeloid118.75
CD34+9.4
CD4+_Tcells7.6
CD56+_NKCells8.55
CD71+_EarlyErythroid6.65
CD8+_Tcells6.4
CardiacMyocytes10.7
Caudatenucleus60.2
Cerebellum5.8
CerebellumPeduncles8.15
CiliaryGanglion5.5
CingulateCortex10.9
Colorectaladenocarcinoma6.9
DorsalRootGanglion5.55
FetalThyroid7.05
Fetalbrain28.1
Fetalliver6.05
Fetallung5.85
GlobusPallidus7.6
Heart9.5
Hypothalamus10.55
Kidney5.8
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)5.75
Liver9.65
Lung7.65
Lymphnode5.9
Lymphoma_burkitts(Daudi)9.1
Lymphoma_burkitts(Raji)10.1
MedullaOblongata12.1
OccipitalLobe13.4
OlfactoryBulb5.7
Ovary4.95
Pancreas5.8
PancreaticIslet7.65
ParietalLobe8.1
Pituitary8.45
Placenta7.5
Pons7.25
PrefrontalCortex19.8
Prostate8.4
Salivarygland5.75
SkeletalMuscle9.25
Skin6.5
SmoothMuscle7.75
Spinalcord7.7
SubthalamicNucleus6.95
SuperiorCervicalGanglion8.15
TemporalLobe6.8
Testis6.25
TestisGermCell6.1
TestisIntersitial6.1
TestisLeydigCell7.15
TestisSeminiferousTubule6.2
Thalamus7.7
Thymus5.4
Thyroid8.1
Tongue7.5
Tonsil7.05
Trachea5.75
TrigeminalGanglion7.35
Uterus5.6
UterusCorpus6.6
WholeBlood8.35
Wholebrain9.2
colon6.9
pineal_day9.1
pineal_night8.92
retina8.45
small_intestine6.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14055_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
Amygdala4.75 ± 0.58
Basal Forebrain4.57 ± 0.6
Basal Part of Pons4.58 ± 0.55
Cerebellar Cortex3.79 ± 0.47
Cerebellar Nuclei4.19 ± 0.54
Claustrum4.22 ± 0.87
Epithalamus3.64 ± 1.05
Frontal Lobe4.74 ± 0.65
Globus Pallidus3.92 ± 1.17
Hypothalamus4.19 ± 0.66
Insula4.64 ± 0.63
Limbic Lobe4.96 ± 0.68
Mesencephalon4.49 ± 0.75
Myelencephalon4.45 ± 0.66
Occipital Lobe4.98 ± 0.57
Parietal Lobe4.72 ± 0.67
Pontine Tegmentum4.78 ± 0.79
Striatum5.92 ± 0.43
Subthalamus4.5 ± 0.28
Temporal Lobe4.52 ± 0.66
Thalamus4.17 ± 0.92
White Matter2.64 ± 1.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna2d3CBCerebellum93.64
100
Cacna2d3CTXCerebral cortex100
100
Cacna2d3HIPHippocampal region83.26
100
Cacna2d3HPFHippocampal formation92.5
100
Cacna2d3HYHypothalamus79.99
91.1
Cacna2d3LSXLateral septal complex63.15
78.03
Cacna2d3MBMidbrain61.14
75.43
Cacna2d3MYMedulla77.2
100
Cacna2d3OLFOlfactory bulb67.06
74.79
Cacna2d3PPons60.55
97.26
Cacna2d3PALPallidum76.01
95.79
Cacna2d3RHPRetrohippocampal region100
100
Cacna2d3sAMYStriatum-like amygdalar nuclei100
100
Cacna2d3STRStriatum100
100
Cacna2d3STRdStriatum dorsal region100
100
Cacna2d3STRvStriatum ventral region100
100
Cacna2d3THThalamus98.43
100
Peptide Top

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved