Gene Page: ATP7B

Summary ?
GeneID540
SymbolATP7B
SynonymsPWD|WC1|WD|WND
DescriptionATPase copper transporting beta
ReferenceMIM:606882|HGNC:HGNC:870|Ensembl:ENSG00000123191|HPRD:06050|Vega:OTTHUMG00000017406
Gene typeprotein-coding
Map location13q14.3
Pascal p-value0.402
Sherlock p-value0.686
Fetal beta0.073
eGeneCerebellar Hemisphere
Cerebellum
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs461218chr573410191ATP7B5400.19trans
rs2937774chr573420816ATP7B5400.07trans

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:0004008copper-exporting ATPase activityIEA-
GO:0004008copper-exporting ATPase activityNAS12763797 
GO:0004008copper-exporting ATPase activityTAS16472602 
GO:0005375copper ion transmembrane transporter activityIEA-
GO:0005507copper ion bindingIDA12029094 
GO:0005507copper ion bindingIEA-
GO:0005515protein bindingIPI16554302 |16884690 
GO:0005524ATP bindingIDA16567646 
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-
GO:0046872metal ion bindingIEA-
GO:0046873metal ion transmembrane transporter activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0030001metal ion transportIEA-
GO:0008152metabolic processIEA-
GO:0007595lactationIEA-
GO:0006825copper ion transportIEA-
GO:0006811ion transportIEA-
GO:0006810transportIEA-
GO:0006878cellular copper ion homeostasisTAS16554302 
GO:0006882cellular zinc ion homeostasisIEA-
GO:0015680intracellular copper ion transportIEA-
GO:0015677copper ion importIDA16472602 
GO:0051208sequestering of calcium ionIDA16472602 
GO:0046688response to copper ionIDA15269005 |16472602 |16939419 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005794Golgi apparatusIEA-
GO:0005802trans-Golgi networkIDA15269005 |16472602 
GO:0005624membrane fractionIEA-
GO:0005737cytoplasmIEA-
GO:0005739mitochondrionIEA-
GO:0005770late endosomeIDA15681833 
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-
GO:0016023cytoplasmic membrane-bounded vesicleIDA16472602 
GO:0005887integral to plasma membraneTAS8298641 
GO:0048471perinuclear region of cytoplasmIDA16939419 
GO:0016323basolateral plasma membraneIDA15269005 

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
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED DN 8647All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 8D UP 15791All SZGR 2.0 genes in this pathway
LUCAS HNF4A TARGETS UP 5836All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL 330215All SZGR 2.0 genes in this pathway
GARCIA TARGETS OF FLI1 AND DAX1 UP 5734All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 16HR UP 225139All SZGR 2.0 genes in this pathway
JOSEPH RESPONSE TO SODIUM BUTYRATE DN 6445All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN 287208All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429260All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME3 AND H3K27ME3 142103All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL SCP2 QTL TRANS 2513All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K4ME3 AND H3K27ME3 210148All SZGR 2.0 genes in this pathway
CHYLA CBFA2T3 TARGETS DN 242146All SZGR 2.0 genes in this pathway