AutismKB 2.0

Annotation Detail for ATP2A2


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Basic Information Top
Gene Symbol:ATP2A2 ( ATP2B,DAR,DD,DKFZp686P0211,FLJ20293,FLJ38063,MGC45367,SERCA2 )
Gene Full Name: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Band: 12q24.11
Quick LinksEntrez ID:488; OMIM: 108740; Uniprot ID:AT2A2_HUMAN; ENSEMBL ID: ENSG00000174437; HGNC ID: 812
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 body16 / 70761226
blastocyst11 / 62319176
fetus84 / 564012148
neonate2 / 3109764
infant6 / 23620254
juvenile3 / 5555653
adult365 / 1939121188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor15 / 94178159
cervical tumor6 / 34366174
chondrosarcoma21 / 82823253
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor22 / 119369184
germ cell tumor34 / 263845128
glioma17 / 106883159
head and neck tumor32 / 136302234
kidney tumor17 / 68959246
leukemia7 / 9584273
liver tumor3 / 9635931
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia13 / 97250133
normal707 / 3360307210
ovarian tumor17 / 76682221
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer9 / 10268087
retinoblastoma8 / 46356172
skin tumor12 / 12494996
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor24 / 90257265
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites6 / 40015149
bladder3 / 29757100
blood4 / 12347832
bone13 / 71655181
bone marrow5 / 48801102
brain196 / 1100989178
cervix6 / 48171124
connective tissue20 / 149255133
ear4 / 16212246
embryonic tissue45 / 215722208
esophagus0 / 202090 
eye52 / 211054246
heart47 / 89626524
intestine25 / 234472106
kidney32 / 211777151
larynx8 / 24145331
liver15 / 20774372
lung60 / 336974178
lymph0 / 442700 
lymph node16 / 91610174
mammary gland23 / 153271150
mouth21 / 67052313
muscle131 / 1077151216
nerve6 / 15768380
ovary18 / 102051176
pancreas24 / 214812111
parathyroid0 / 205390 
pharynx7 / 41328169
pituitary gland1 / 1658560
placenta21 / 28082574
prostate19 / 189345100
salivary gland0 / 201550 
skin72 / 210574341
spleen2 / 5395237
stomach12 / 96619124
testis70 / 330442211
thymus5 / 8113161
thyroid7 / 47473147
tonsil0 / 169990 
trachea13 / 52413248
umbilical cord0 / 136800 
uterus40 / 232878171
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212361_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts36.5
Adipocyte58.7
AdrenalCortex53.9
Adrenalgland38.7
Amygdala1295.15
Appendix23.1
AtrioventricularNode7.15
BDCA4+_DentriticCells30.9
Bonemarrow6.3
BronchialEpithelialCells83
CD105+_Endothelial18.7
CD14+_Monocytes22.35
CD19+_BCells(neg._sel.)14.25
CD33+_Myeloid66.25
CD34+88.75
CD4+_Tcells25.5
CD56+_NKCells20.75
CD71+_EarlyErythroid8.25
CD8+_Tcells22.25
CardiacMyocytes29.5
Caudatenucleus768.4
Cerebellum610.05
CerebellumPeduncles613.25
CiliaryGanglion17.5
CingulateCortex942.6
Colorectaladenocarcinoma33.75
DorsalRootGanglion14.25
FetalThyroid152.15
Fetalbrain773.75
Fetalliver29
Fetallung83.75
GlobusPallidus572.15
Heart1305.85
Hypothalamus927.6
Kidney20.25
Leukemia_chronicMyelogenousK-56236.65
Leukemia_promyelocytic-HL-6022.85
Leukemialymphoblastic(MOLT-4)15.35
Liver95.95
Lung90.3
Lymphnode24.15
Lymphoma_burkitts(Daudi)30.8
Lymphoma_burkitts(Raji)32.4
MedullaOblongata940.6
OccipitalLobe1115.05
OlfactoryBulb68.85
Ovary19.8
Pancreas19.95
PancreaticIslet53.8
ParietalLobe936.9
Pituitary56.4
Placenta111.6
Pons461
PrefrontalCortex1533.95
Prostate115.45
Salivarygland24.15
SkeletalMuscle4648.55
Skin7.15
SmoothMuscle200.35
Spinalcord256.5
SubthalamicNucleus695.45
SuperiorCervicalGanglion10.75
TemporalLobe417.15
Testis108.2
TestisGermCell109.85
TestisIntersitial28.3
TestisLeydigCell18.1
TestisSeminiferousTubule21.1
Thalamus1851.6
Thymus23.45
Thyroid832.35
Tongue1506.5
Tonsil22.15
Trachea111.5
TrigeminalGanglion9.45
Uterus129
UterusCorpus32.65
WholeBlood25.9
Wholebrain1168
colon34.1
pineal_day395.9
pineal_night407.9
retina1925.35
small_intestine69.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P53603
  • 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
Amygdala8.88 ± 0.38
Basal Forebrain8.85 ± 0.23
Basal Part of Pons9.37 ± 0.3
Cerebellar Cortex8.98 ± 0.3
Cerebellar Nuclei9.15 ± 0.28
Claustrum9.37 ± 0.55
Epithalamus8.76 ± 0.53
Frontal Lobe9.18 ± 0.39
Globus Pallidus8.51 ± 0.33
Hypothalamus8.97 ± 0.27
Insula8.98 ± 0.26
Limbic Lobe9.18 ± 0.46
Mesencephalon8.97 ± 0.23
Myelencephalon9.11 ± 0.37
Occipital Lobe9.3 ± 0.33
Parietal Lobe9.33 ± 0.41
Pontine Tegmentum9.18 ± 0.36
Striatum9.18 ± 0.45
Subthalamus9.09 ± 0.3
Temporal Lobe9.15 ± 0.34
Thalamus9.43 ± 0.34
White Matter8.46 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp2a2CBCerebellum78.12
100
Atp2a2CTXCerebral cortex100
100
Atp2a2HIPHippocampal region100
100
Atp2a2HPFHippocampal formation100
100
Atp2a2HYHypothalamus100
100
Atp2a2LSXLateral septal complex100
100
Atp2a2MBMidbrain100
100
Atp2a2MYMedulla100
100
Atp2a2OLFOlfactory bulb100
100
Atp2a2PPons100
100
Atp2a2PALPallidum100
100
Atp2a2RHPRetrohippocampal region100
100
Atp2a2sAMYStriatum-like amygdalar nuclei100
100
Atp2a2STRStriatum100
100
Atp2a2STRdStriatum dorsal region100
100
Atp2a2STRvStriatum ventral region100
100
Atp2a2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AT2A2_HUMAN_1 35 1 35 MENAHTKTVEEVLGHFGVNESTGLSLEQVKKLKER PRIDE
AT2A2_HUMAN_1 7 1 7 MENAHTK PRIDE
AT2A2_HUMAN_142 17 142 158 AKDIVPGDIVEIAVGDK PRIDE
AT2A2_HUMAN_143 21 143 163 DIVPGDIVEIAVGDKVPADIR PRIDE
AT2A2_HUMAN_144 21 144 164 DIVPGDIVEIAVGDKVPADIR PRIDE
AT2A2_HUMAN_174 15 174 188 VDQSILTGESVSVIK PRIDE
AT2A2_HUMAN_175 15 175 189 VDQSILTGESVSVIK PRIDE
AT2A2_HUMAN_235 12 235 246 IRDEMVATEQER PRIDE
AT2A2_HUMAN_335 18 335 352 SLPSVETLGCTSVICSDK PRIDE
AT2A2_HUMAN_353 13 353 365 TGTLTTNQMSVCR PRIDE
AT2A2_HUMAN_436 15 436 450 VGEATETALTCLVEK PRIDE
AT2A2_HUMAN_437 15 437 451 VGEATETALTCLVEK PRIDE
AT2A2_HUMAN_452 9 452 460 MNVFDTELK PRIDE
AT2A2_HUMAN_468 9 468 476 ANACNSVIK PRIDE
AT2A2_HUMAN_482 8 482 489 EFTLEFSR PRIDE
AT2A2_HUMAN_542 8 542 549 QKIMSVIR PRIDE
AT2A2_HUMAN_560 12 560 571 CLALATHDNPLR PRIDE
AT2A2_HUMAN_620 9 620 628 VIMITGDNK PRIDE
AT2A2_HUMAN_637 13 637 649 IGIFGQDEDVTSK PRIDE
AT2A2_HUMAN_686 26 686 711 IVEFLQSFDEITAMTGDGVNDAPALK PRIDE
AT2A2_HUMAN_711 16 711 726 KAEIGIAMGSGTAVAK PRIDE
AT2A2_HUMAN_728 23 728 750 TASEMVLADDNFSTIVAAVEEGR PRIDE
AT2A2_HUMAN_751 7 751 757 AIYNNMK PRIDE
AT2A2_HUMAN_863 13 863 875 VSFYQLSHFLQCK PRIDE
AT2A2_HUMAN_864 13 864 876 VSFYQLSHFLQCK PRIDE
AT2A2_HUMAN_971 13 971 983 ISLPVILMDETLK PRIDE
AT2A2_HUMAN_972 13 972 984 ISLPVILMDETLK PRIDE
AT2A2_HUMAN_988 15 988 1002 NYLEPGKECVQPATK PRIDE
PAp00001123 12 560 571 CLALATHDNPLR 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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