Gene Page: CACNB2

Summary ?
GeneID783
SymbolCACNB2
SynonymsCACNLB2|CAVB2|MYSB
Descriptioncalcium voltage-gated channel auxiliary subunit beta 2
ReferenceMIM:600003|HGNC:HGNC:1402|Ensembl:ENSG00000165995|HPRD:02473|Vega:OTTHUMG00000017764
Gene typeprotein-coding
Map location10p12
Pascal p-value1.42E-9
Sherlock p-value0.13
Fetal beta-2.671
eGeneMyers' cis & trans
SupportCompositeSet

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:PGC128Genome-wide Association StudyA multi-stage schizophrenia GWAS of up to 36,989 cases and 113,075 controls. Reported by the Schizophrenia Working Group of PGC. 128 independent associations spanning 108 loci
CV:PGCnpGenome-wide Association StudyGWAS
CV:Ripke_2013Genome-wide Association StudyMulti-stage GWAS, Sweden population and PGC2. 24 leading SNPs
LK:YESGenome-wide Association StudyThis data set included 99 genes mapped to the 22 regions. The 24 leading SNPs were also included in CV:Ripke_2013
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,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@CV:PGC128

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance
rs7893279chr1018745105TG3.562E-11intronicCACNB2

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs6481737chr1019360952CACNB27830.13cis
rs4509661chr1019362931CACNB27830.18cis
rs4465279chr1019363075CACNB27830.16cis

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:0005509calcium ion bindingIEA-
GO:0005244voltage-gated ion channel activityIEA-
GO:0005245voltage-gated calcium channel activityIEA-
GO:0005245voltage-gated calcium channel activityTAS9254841 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007528neuromuscular junction developmentTASSynap (GO term level: 10)8494331 
GO:0006816calcium ion transportIEA-
GO:0006816calcium ion transportNAS-
GO:0006811ion transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005886plasma membraneIEA-
GO:0005887integral to plasma membraneNAS9594024 
GO:0005891voltage-gated calcium channel complexTAS9254841 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG MAPK SIGNALING PATHWAY 267205All SZGR 2.0 genes in this pathway
KEGG CARDIAC MUSCLE CONTRACTION 8051All SZGR 2.0 genes in this pathway
KEGG HYPERTROPHIC CARDIOMYOPATHY HCM 8565All SZGR 2.0 genes in this pathway
KEGG ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ARVC 7659All SZGR 2.0 genes in this pathway
KEGG DILATED CARDIOMYOPATHY 9268All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY 396292All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME INTEGRATION OF ENERGY METABOLISM 12084All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE 251188All SZGR 2.0 genes in this pathway
REACTOME NCAM1 INTERACTIONS 3927All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF INSULIN SECRETION 9365All SZGR 2.0 genes in this pathway
REACTOME NCAM SIGNALING FOR NEURITE OUT GROWTH 6449All SZGR 2.0 genes in this pathway
REACTOME INHIBITION OF INSULIN SECRETION BY ADRENALINE NORADRENALINE 2515All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391222All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE DN 244147All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA DN 284156All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
HADDAD T LYMPHOCYTE AND NK PROGENITOR UP 7856All SZGR 2.0 genes in this pathway
LU AGING BRAIN DN 153120All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
CHEN LVAD SUPPORT OF FAILING HEART DN 4232All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY DN 14588All SZGR 2.0 genes in this pathway
LEE CALORIE RESTRICTION NEOCORTEX DN 8858All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN 434302All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K27ME3 UP 295149All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K9ME3 UP 14175All SZGR 2.0 genes in this pathway
ACEVEDO METHYLATED IN LIVER CANCER DN 940425All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222147All SZGR 2.0 genes in this pathway
ALFANO MYC TARGETS 239156All SZGR 2.0 genes in this pathway
PEDRIOLI MIR31 TARGETS DN 418245All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1 467251All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-101540546m8hsa-miR-101UACAGUACUGUGAUAACUGAAG
hsa-miR-101UACAGUACUGUGAUAACUGAAG
miR-124.1490496m8hsa-miR-124aUUAAGGCACGCGGUGAAUGCCA
miR-124/5064904961Ahsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-128126512711Ahsa-miR-128aUCACAGUGAACCGGUCUCUUUU
hsa-miR-128bUCACAGUGAACCGGUCUCUUUC
miR-145127912851Ahsa-miR-145GUCCAGUUUUCCCAGGAAUCCCUU
miR-1517297351Ahsa-miR-151brainACUAGACUGAAGCUCCUUGAGG
miR-181814820m8hsa-miR-181abrainAACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZAACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrainAACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrainAACAUUCAUUGUUGUCGGUGGGUU
miR-182118711931Ahsa-miR-182UUUGGCAAUGGUAGAACUCACA
miR-1999589641Ahsa-miR-199aCCCAGUGUUCAGACUACCUGUUC
hsa-miR-199bCCCAGUGUUUAGACUAUCUGUUC
hsa-miR-199aCCCAGUGUUCAGACUACCUGUUC
hsa-miR-199bCCCAGUGUUUAGACUAUCUGUUC
miR-2086476531Ahsa-miR-208AUAAGACGAGCAAAAAGCUUGU
miR-26155515611Ahsa-miR-26abrainUUCAAGUAAUCCAGGAUAGGC
hsa-miR-26bSZUUCAAGUAAUUCAGGAUAGGUU
miR-2712651271m8hsa-miR-27abrainUUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrainUUCACAGUGGCUAAGUUCUGC
miR-30-5p132913361A,m8hsa-miR-30a-5pUGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrainUGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZUGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZUGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5pUGUAAACAUCCUUGACUGGA
miR-31487493m8hsa-miR-31AGGCAAGAUGCUGGCAUAGCUG
miR-3396846901Ahsa-miR-339UCCCUGUCCUCCAGGAGCUCA
miR-376c5295361A,m8hsa-miR-376cAACAUAGAGGAAAUUCCACG
miR-3787077131Ahsa-miR-378CUCCUGACUCCAGGUCCUGUGU
miR-4105996051Ahsa-miR-410AAUAUAACACAGAUGGCCUGU
miR-4525795861A,m8hsa-miR-452UGUUUGCAGAGGAAACUGAGAC
miR-4996466531A,m8hsa-miR-499UUAAGACUUGCAGUGAUGUUUAA
miR-5435685741Ahsa-miR-543AAACAUUCGCGGUGCACUUCU
miR-915101516m8hsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA
miR-96118711931Ahsa-miR-96brainUUUGGCACUAGCACAUUUUUGC