Summary ?
GeneID51761
SymbolATP8A2
SynonymsATP|ATPIB|CAMRQ4|IB|ML-1
DescriptionATPase phospholipid transporting 8A2
ReferenceMIM:605870|HGNC:HGNC:13533|Ensembl:ENSG00000132932|HPRD:05795|Vega:OTTHUMG00000016611
Gene typeprotein-coding
Map location13q12
Pascal p-value0.146
Fetal beta-1.274
eGeneCerebellum
Myers' cis & trans
SupportAscano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWAScatGenome-wide Association StudiesThis data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs12997903chr21952083ATP8A2517610.19trans
rs6733654chr21963270ATP8A2517610.04trans
rs934955chr2193537127ATP8A2517610.16trans
rs6772815chr35164768ATP8A2517610.12trans
rs17029291chr332402138ATP8A2517610.17trans
rs17465252chr3118537078ATP8A2517610.18trans
rs17069894chr4181542718ATP8A2517610.05trans
rs7868778chr9133811342ATP8A2517610.09trans
rs4607971chr1019407890ATP8A2517610trans
rs10145685chr1422794892ATP8A2517610.12trans
rs17793827chr1422797560ATP8A2517610.05trans
rs10136383chr1422801078ATP8A2517610.05trans
rs624778chr1548073967ATP8A2517610.06trans
rs532707chr1548074070ATP8A2517610.06trans
rs553338chr1548076921ATP8A2517610.06trans
rs596942chr1548082150ATP8A2517610.05trans
rs1761450chr1954818034ATP8A2517610.14trans
rs9637082chr2121213235ATP8A2517611.26E-4trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0000287magnesium ion bindingIEA-
GO:0004012phospholipid-translocating ATPase activityIEA-
GO:0005524ATP bindingIEA-
GO:0016787hydrolase activityIEA-
GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substancesIEA-
GO:0015662ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanismIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0008285negative regulation of cell proliferationTAS10551800 
GO:0006810transportIEA-
GO:0015914phospholipid transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME ION TRANSPORT BY P TYPE ATPASES 3421All SZGR 2.0 genes in this pathway
REACTOME ION CHANNEL TRANSPORT 5542All SZGR 2.0 genes in this pathway
AKL HTLV1 INFECTION DN 6841All SZGR 2.0 genes in this pathway
WONG ENDMETRIUM CANCER DN 8253All SZGR 2.0 genes in this pathway
GALLUZZI PREVENT MITOCHONDIAL PERMEABILIZATION 2216All SZGR 2.0 genes in this pathway
HATADA METHYLATED IN LUNG CANCER UP 390236All SZGR 2.0 genes in this pathway
MANTOVANI NFKB TARGETS UP 4333All SZGR 2.0 genes in this pathway
MANTOVANI VIRAL GPCR SIGNALING UP 8654All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR UP 487286All SZGR 2.0 genes in this pathway
URS ADIPOCYTE DIFFERENTIATION UP 7451All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
LIU SMARCA4 TARGETS 6439All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491310All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN 220147All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K27ME3 DN 228114All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590403All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1503313371Ahsa-miR-150UCUCCCAACCCUUGUACCAGUG
miR-203.1111117m8hsa-miR-203UGAAAUGUUUAGGACCACUAG
miR-3772742801Ahsa-miR-377AUCACACAAAGGCAACUUUUGU
miR-4954046m8hsa-miR-495brainAAACAAACAUGGUGCACUUCUUU
hsa-miR-495brainAAACAAACAUGGUGCACUUCUUU