Summary ?
GeneID526
SymbolATP6V1B2
SynonymsATP6B1B2|ATP6B2|HO57|VATB|VPP3|Vma2
DescriptionATPase H+ transporting V1 subunit B2
ReferenceMIM:606939|HGNC:HGNC:854|Ensembl:ENSG00000147416|HPRD:06088|Vega:OTTHUMG00000131073
Gene typeprotein-coding
Map location8p21.3
Pascal p-value0.651
Sherlock p-value0.894
Fetal beta-1.611
eGeneAnterior cingulate cortex BA24
Myers' cis & trans
SupportION BALANCE
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell 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
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.031 
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.00057 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.03086 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4921718chr820313633ATP6V1B25260.16cis
rs67854339820520376ATP6V1B2ENSG00000147416.62.45121E-70.01465498gtex_brain_ba24
rs17421112820525787ATP6V1B2ENSG00000147416.65.06624E-80.01470909gtex_brain_ba24

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MDH10.930.94
HPRT10.910.92
CCNDBP10.900.89
GOT10.900.92
GHITM0.890.93
ATG70.890.87
TMEM1110.890.91
CHN10.880.81
ANXA70.880.83
PPP2R40.870.90
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SH3BP2-0.52-0.55
SMTN-0.52-0.54
FADS2-0.51-0.43
GLIS2-0.50-0.46
FAM59B-0.49-0.46
SEMA4B-0.49-0.44
CDC42EP4-0.49-0.47
UPF3A-0.48-0.43
SH2B2-0.47-0.48
PDE9A-0.47-0.43

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0016787hydrolase activityIEA-
GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanismIEA-
GO:0046933hydrogen ion transporting ATP synthase activity, rotational mechanismIEA-
GO:0046872metal ion bindingIEA-
GO:0046961hydrogen ion transporting ATPase activity, rotational mechanismTAS2145275 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006811ion transportIEA-
GO:0006754ATP biosynthetic processIEA-
GO:0015988energy coupled proton transport, against electrochemical gradientIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0012505endomembrane systemIEA-
GO:0005737cytoplasmIEA-
GO:0016020membraneIEA-
GO:0016469proton-transporting two-sector ATPase complexIEA-
GO:0042470melanosomeIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG OXIDATIVE PHOSPHORYLATION 13573All SZGR 2.0 genes in this pathway
KEGG VIBRIO CHOLERAE INFECTION 5632All SZGR 2.0 genes in this pathway
KEGG EPITHELIAL CELL SIGNALING IN HELICOBACTER PYLORI INFECTION 6844All SZGR 2.0 genes in this pathway
REACTOME INSULIN RECEPTOR RECYCLING 239All SZGR 2.0 genes in this pathway
REACTOME LATENT INFECTION OF HOMO SAPIENS WITH MYCOBACTERIUM TUBERCULOSIS 3315All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME IRON UPTAKE AND TRANSPORT 3618All SZGR 2.0 genes in this pathway
REACTOME TRANSFERRIN ENDOCYTOSIS AND RECYCLING 2510All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY INSULIN RECEPTOR 10872All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 UP 201125All SZGR 2.0 genes in this pathway
GAZDA DIAMOND BLACKFAN ANEMIA ERYTHROID UP 2518All SZGR 2.0 genes in this pathway
GAZDA DIAMOND BLACKFAN ANEMIA PROGENITOR UP 3925All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443294All SZGR 2.0 genes in this pathway
MARKEY RB1 ACUTE LOF UP 215137All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP 1142669All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS A UP 191128All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584395All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP 811508All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN 261155All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS DN 6639All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL CIS 12877All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
BROWN MYELOID CELL DEVELOPMENT UP 165100All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION UP 14083All SZGR 2.0 genes in this pathway
MODY HIPPOCAMPUS POSTNATAL 6350All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR UP 180125All SZGR 2.0 genes in this pathway
GENTILE UV RESPONSE CLUSTER D5 3926All SZGR 2.0 genes in this pathway
GENTILE UV HIGH DOSE DN 312203All SZGR 2.0 genes in this pathway
SESTO RESPONSE TO UV C1 7245All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER DN 540340All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE DN 274165All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS DN 210128All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS DN 366257All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER DN 238145All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
ZHAN V1 LATE DIFFERENTIATION GENES UP 3225All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1 237159All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756494All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682440All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP 548370All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 DN 180116All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1/206114911551Ahsa-miR-1UGGAAUGUAAAGAAGUAUGUA
hsa-miR-206SZUGGAAUGUAAGGAAGUGUGUGG
hsa-miR-613AGGAAUGUUCCUUCUUUGCC
miR-130/3016268m8hsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
miR-141/200a145151m8hsa-miR-141UAACACUGUCUGGUAAAGAUGG
hsa-miR-200aUAACACUGUCUGGUAACGAUGU
miR-196167m8hsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
miR-2312411247m8hsa-miR-23abrainAUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrainAUCACAUUGCCAGGGAUUACC
miR-323124112471Ahsa-miR-323brainGCACAUUACACGGUCGACCUCU
miR-543127112771Ahsa-miR-543AAACAUUCGCGGUGCACUUCU