Gene Page:ATP7B

Summary?
GeneID 540
Symbol ATP7B
Synonyms PWD|WC1|WD|WND
Description ATPase copper transporting beta
Reference MIM:606882|HGNC:HGNC:870|Ensembl:ENSG00000123191|HPRD:06050|Vega:OTTHUMG00000017406
Gene type protein-coding
Map location 13q14.3
Pascal p-value 0.402
Sherlock p-value 0.686
Fetal beta 0.073
eGene Cerebellar Hemisphere
Cerebellum
Myers' cis & trans
元

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search 与精神分裂症Co-occurance关键词:schizophrenia,schizophrenic,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs461218 chr5 73410191 ATP7B 540 0.19 trans
rs2937774 chr5 73420816 ATP7B 540 0.07 trans

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 function GO term Evidence Neuro keywords PubMed ID
GO:0000166 nucleotide binding IEA -
GO:0000287 magnesium ion binding IEA -
GO:0004008 copper-exporting ATPase activity IEA -
GO:0004008 copper-exporting ATPase activity NAS 12763797
GO:0004008 copper-exporting ATPase activity TAS 16472602
GO:0005375 copper ion transmembrane transporter activity IEA -
GO:0005507 copper ion binding IDA 12029094
GO:0005507 copper ion binding IEA -
GO:0005515 protein binding 新闻学会 16554302|16884690
GO:0005524 ATP binding IDA 16567646
GO:0005524 ATP binding IEA -
GO:0016787 hydrolase activity IEA -
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA -
GO:0015662 ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism IEA -
GO:0046872 metal ion binding IEA -
GO:0046873 metal ion transmembrane transporter activity IEA -
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0030001 metal ion transport IEA -
GO:0008152 metabolic process IEA -
GO:0007595 lactation IEA -
GO:0006825 copper ion transport IEA -
GO:0006811 ion transport IEA -
GO:0006810 transport IEA -
GO:0006878 cellular copper ion homeostasis TAS 16554302
GO:0006882 cellular zinc ion homeostasis IEA -
GO:0015680 intracellular copper ion transport IEA -
GO:0015677 copper ion import IDA 16472602
GO:0051208 sequestering of calcium ion IDA 16472602
GO:0046688 response to copper ion IDA 15269005|16472602|16939419
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005794 Golgi apparatus IEA -
GO:0005802 trans-Golgi network IDA 15269005|16472602
GO:0005624 membrane fraction IEA -
GO:0005737 cytoplasm IEA -
GO:0005739 mitochondrion IEA -
GO:0005770 late endosome IDA 15681833
GO:0016020 membrane IEA -
GO:0016021 integral to membrane IEA -
GO:0016023 cytoplasmic membrane-bounded vesicle IDA 16472602
GO:0005887 integral to plasma membrane TAS 8298641
GO:0048471 perinuclear region of cytoplasm IDA 16939419
GO:0016323 basolateral plasma membrane IDA 15269005

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413 270 All SZGR 2.0 genes in this pathway
REACTOME ION TRANSPORT BY P TYPE ATPASES 34 21 All SZGR 2.0 genes in this pathway
REACTOME ION CHANNEL TRANSPORT 55 42 All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382 904 All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED DN 86 47 All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 8D UP 157 91 All SZGR 2.0 genes in this pathway
LUCAS HNF4A TARGETS UP 58 36 All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL 330 215 All SZGR 2.0 genes in this pathway
GARCIA TARGETS OF FLI1 AND DAX1 UP 57 34 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 16HR UP 225 139 All SZGR 2.0 genes in this pathway
JOSEPH RESPONSE TO SODIUM BUTYRATE DN 64 45 All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN 287 208 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720 440 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701 446 All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429 260 All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305 895 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME3 AND H3K27ME3 142 103 All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069 729 All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL SCP2 QTL TRANS 25 13 All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K4ME3 AND H3K27ME3 210 148 All SZGR 2.0 genes in this pathway
CHYLA CBFA2T3 TARGETS DN 242 146 All SZGR 2.0 genes in this pathway