AutismKB 2.0

Annotation Detail for CACNA2D2


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Basic Information Top
Gene Symbol:CACNA2D2 ( CACNA2D,KIAA0558,LUAC11.1 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2
Band: 3p21.31
Quick LinksEntrez ID:9254; OMIM: 607082; Uniprot ID:CA2D2_HUMAN; ENSEMBL ID: ENSG00000007402; HGNC ID: 1400
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 body1 / 7076114
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia3 / 9725030
normal36 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
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 tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine4 / 23447217
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis9 / 33044227
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: 204811_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts18.4
Adipocyte13
AdrenalCortex28.25
Adrenalgland16.35
Amygdala22.45
Appendix15.8
AtrioventricularNode43.9
BDCA4+_DentriticCells14.6
Bonemarrow19.3
BronchialEpithelialCells11.1
CD105+_Endothelial19.95
CD14+_Monocytes14.3
CD19+_BCells(neg._sel.)9.1
CD33+_Myeloid18.3
CD34+19.2
CD4+_Tcells28.3
CD56+_NKCells396.9
CD71+_EarlyErythroid21.15
CD8+_Tcells47.55
CardiacMyocytes21.35
Caudatenucleus43.85
Cerebellum61.95
CerebellumPeduncles101.65
CiliaryGanglion13.5
CingulateCortex23.5
Colorectaladenocarcinoma32.4
DorsalRootGanglion20.15
FetalThyroid13.05
Fetalbrain21.4
Fetalliver10.85
Fetallung45.35
GlobusPallidus16.95
Heart25
Hypothalamus68.05
Kidney15.7
Leukemia_chronicMyelogenousK-56216.95
Leukemia_promyelocytic-HL-607.2
Leukemialymphoblastic(MOLT-4)10.85
Liver8.8
Lung414.1
Lymphnode15.85
Lymphoma_burkitts(Daudi)16.35
Lymphoma_burkitts(Raji)28.1
MedullaOblongata25.25
OccipitalLobe24.75
OlfactoryBulb13.2
Ovary13.35
Pancreas16.15
PancreaticIslet76.15
ParietalLobe37.55
Pituitary19.35
Placenta14.95
Pons34.85
PrefrontalCortex28.25
Prostate26.5
Salivarygland15.6
SkeletalMuscle25.7
Skin16.4
SmoothMuscle22.2
Spinalcord25.95
SubthalamicNucleus26.05
SuperiorCervicalGanglion23.8
TemporalLobe24.25
Testis24.85
TestisGermCell25.65
TestisIntersitial15.7
TestisLeydigCell20.05
TestisSeminiferousTubule18.05
Thalamus32.15
Thymus11.1
Thyroid25.5
Tongue18.85
Tonsil18.95
Trachea12.45
TrigeminalGanglion19.55
Uterus15.5
UterusCorpus13.25
WholeBlood16.25
Wholebrain16.95
colon20.55
pineal_day177.22
pineal_night190.22
retina61.625
small_intestine18.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11765_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
Amygdala2.2 ± 1.04
Basal Forebrain1.7 ± 0.2
Basal Part of Pons1.45 ± 0.41
Cerebellar Cortex1.91 ± 0.74
Cerebellar Nuclei2.08 ± 0.72
Claustrum2.57 ± 0.82
Epithalamus1.49 ± 0.78
Frontal Lobe1.58 ± 0.57
Globus Pallidus2.35 ± 0.78
Hypothalamus1.95 ± 0.6
Insula1.73 ± 0.44
Limbic Lobe1.75 ± 0.64
Mesencephalon1.93 ± 0.66
Myelencephalon1.78 ± 0.63
Occipital Lobe1.81 ± 0.51
Parietal Lobe1.83 ± 0.8
Pontine Tegmentum1.81 ± 0.68
Striatum1.77 ± 0.49
Subthalamus1.96 ± 0.66
Temporal Lobe1.64 ± 0.64
Thalamus1.72 ± 0.57
White Matter2.13 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna2d2CBCerebellum42.83
100
Cacna2d2CTXCerebral cortex39.9
36.93
Cacna2d2HIPHippocampal region15.43
19.16
Cacna2d2HPFHippocampal formation29.83
31.91
Cacna2d2HYHypothalamus71.47
67.99
Cacna2d2LSXLateral septal complex100
100
Cacna2d2MBMidbrain78.07
82.24
Cacna2d2MYMedulla81.51
91.98
Cacna2d2OLFOlfactory bulb49.12
47.13
Cacna2d2PPons71.95
82.08
Cacna2d2PALPallidum79.1
90.87
Cacna2d2RHPRetrohippocampal region50.8
46.91
Cacna2d2sAMYStriatum-like amygdalar nuclei74.88
69.96
Cacna2d2STRStriatum62.86
57.86
Cacna2d2STRdStriatum dorsal region50.74
43.99
Cacna2d2STRvStriatum ventral region64.36
56.85
Cacna2d2THThalamus45.19
45.98
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00093043 12 460 471 INTQEYLDVLGR 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


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