AutismKB 2.0

Annotation Detail for ATP2B4


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Basic Information Top
Gene Symbol:ATP2B4 ( ATP2B2,DKFZp686G08106,DKFZp686M088,MXRA1,PMCA4,PMCA4b,PMCA4x )
Gene Full Name: ATPase, Ca++ transporting, plasma membrane 4
Band: 1q32.1
Quick LinksEntrez ID:493; OMIM: 108732; Uniprot ID:AT2B4_HUMAN; ENSEMBL ID: ENSG00000058668; HGNC ID: 817
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 body8 / 70761113
blastocyst1 / 6231916
fetus40 / 56401270
neonate2 / 3109764
infant2 / 2362084
juvenile5 / 5555689
adult263 / 1939121135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor11 / 94178116
cervical tumor1 / 3436629
chondrosarcoma12 / 82823144
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor17 / 26384564
glioma12 / 106883112
head and neck tumor37 / 136302271
kidney tumor6 / 6895987
leukemia12 / 95842125
liver tumor4 / 9635941
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia12 / 97250123
normal383 / 3360307113
ovarian tumor17 / 76682221
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor17 / 90257188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites2 / 4001549
bladder0 / 297570 
blood8 / 12347864
bone5 / 7165569
bone marrow6 / 48801122
brain144 / 1100989130
cervix2 / 4817141
connective tissue20 / 149255133
ear3 / 16212185
embryonic tissue14 / 21572264
esophagus2 / 2020998
eye33 / 211054156
heart9 / 89626100
intestine21 / 23447289
kidney14 / 21177766
larynx17 / 24145704
liver12 / 20774357
lung25 / 33697474
lymph0 / 442700 
lymph node2 / 9161021
mammary gland23 / 153271150
mouth12 / 67052178
muscle23 / 107715213
nerve2 / 15768126
ovary18 / 102051176
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta22 / 28082578
prostate10 / 18934552
salivary gland1 / 2015549
skin27 / 210574128
spleen4 / 5395274
stomach9 / 9661993
testis44 / 330442133
thymus7 / 8113186
thyroid8 / 47473168
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord0 / 136800 
uterus73 / 232878313
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205410_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.2
Adipocyte5
AdrenalCortex4.15
Adrenalgland3.3
Amygdala4.5
Appendix4.2
AtrioventricularNode2.95
BDCA4+_DentriticCells4.45
Bonemarrow3.9
BronchialEpithelialCells3.75
CD105+_Endothelial4.05
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)4.25
CD33+_Myeloid5.1
CD34+4.75
CD4+_Tcells4.35
CD56+_NKCells4.85
CD71+_EarlyErythroid3.65
CD8+_Tcells3.9
CardiacMyocytes4.9
Caudatenucleus3.5
Cerebellum3.2
CerebellumPeduncles4.45
CiliaryGanglion2.75
CingulateCortex4.05
Colorectaladenocarcinoma3.9
DorsalRootGanglion3
FetalThyroid3.8
Fetalbrain3.95
Fetalliver3.4
Fetallung3.3
GlobusPallidus2.9
Heart5.2
Hypothalamus4.35
Kidney3.15
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.5
Leukemialymphoblastic(MOLT-4)3.2
Liver5.2
Lung4.35
Lymphnode3.4
Lymphoma_burkitts(Daudi)5
Lymphoma_burkitts(Raji)5.45
MedullaOblongata3.7
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary2.7
Pancreas3.2
PancreaticIslet4.25
ParietalLobe4.15
Pituitary4.6
Placenta4.6
Pons3.75
PrefrontalCortex5
Prostate4.7
Salivarygland3.15
SkeletalMuscle4.6
Skin3.1
SmoothMuscle4.5
Spinalcord4.2
SubthalamicNucleus3.7
SuperiorCervicalGanglion4.5
TemporalLobe3.65
Testis3.5
TestisGermCell3.4
TestisIntersitial3.3
TestisLeydigCell3.9
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.15
Thyroid5
Tongue4.25
Tonsil3.85
Trachea3.3
TrigeminalGanglion4.6
Uterus3.3
UterusCorpus4.1
WholeBlood4.2
Wholebrain3.4
colon4.8
pineal_day4.92
pineal_night4.52
retina4.8
small_intestine3.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_97_PI416408490
  • 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
Amygdala7.68 ± 0.65
Basal Forebrain7.59 ± 0.52
Basal Part of Pons6.26 ± 0.3
Cerebellar Cortex7.3 ± 0.46
Cerebellar Nuclei6.82 ± 0.24
Claustrum7.27 ± 0.68
Epithalamus7.98 ± 0.62
Frontal Lobe7.53 ± 0.48
Globus Pallidus7.07 ± 0.33
Hypothalamus7.83 ± 0.49
Insula7.92 ± 0.39
Limbic Lobe7.41 ± 0.79
Mesencephalon7.43 ± 0.48
Myelencephalon7.32 ± 0.75
Occipital Lobe6.8 ± 0.76
Parietal Lobe7.17 ± 0.63
Pontine Tegmentum7.7 ± 0.45
Striatum6.29 ± 0.84
Subthalamus6.3 ± 1.15
Temporal Lobe7.72 ± 0.57
Thalamus7.36 ± 0.54
White Matter5.89 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp2b4CBCerebellum1.76
2.04
Atp2b4CTXCerebral cortex71.2
80.27
Atp2b4HIPHippocampal region10.89
16.46
Atp2b4HPFHippocampal formation34.98
48.5
Atp2b4HYHypothalamus15.18
13.59
Atp2b4LSXLateral septal complex100
100
Atp2b4MBMidbrain10.76
10.83
Atp2b4MYMedulla14.98
15.75
Atp2b4OLFOlfactory bulb85.38
100
Atp2b4PPons10.22
11.76
Atp2b4PALPallidum24.64
24.79
Atp2b4RHPRetrohippocampal region71.39
87.92
Atp2b4sAMYStriatum-like amygdalar nuclei98.24
100
Atp2b4STRStriatum39.07
44.54
Atp2b4STRdStriatum dorsal region26.08
31.38
Atp2b4STRvStriatum ventral region24.76
21.32
Atp2b4THThalamus1.53
1.56
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AT2B4_HUMAN_194 21 194 214 NGQLIQLPVAEIVVGDIAQVK PRIDE
AT2B4_HUMAN_215 18 215 232 YGDLLPADGILIQGNDLK PRIDE
AT2B4_HUMAN_249 20 249 268 SLDKDPMLLSGTHVMEGSGR PRIDE
AT2B4_HUMAN_530 25 530 554 QVGNKTECALLGFVTDLKQDYQAVR PRIDE
AT2B4_HUMAN_618 7 618 624 DRDDMVR PRIDE
AT2B4_HUMAN_624 12 624 635 TVIEPMACDGLR PRIDE
AT2B4_HUMAN_693 11 693 703 MVTGDNINTAR PRIDE
AT2B4_HUMAN_777 17 777 793 QVVAVTGDGTNDGPALK PRIDE
AT2B4_HUMAN_8 11 8 18 VLPANSMAESR PRIDE
PAp00011535 21 37 57 SRDALTQINVHYGGVQNLCSR 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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