Property Summary

NCBI Gene PubMed Count 64
PubMed Score 24.98
PubTator Score 26.16

Knowledge Summary

Patent (1,925)

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
ovarian cancer 8492 1.16903990725112E-29
lung carcinoma 2844 1.46518516918936E-13
posterior fossa group A ependymoma 1511 1.02827745406957E-12
osteosarcoma 7933 7.64371754633357E-11
atypical teratoid / rhabdoid tumor 4369 1.99278934815649E-6
sonic hedgehog group medulloblastoma 1482 3.6785766843982E-6
intraductal papillary-mucinous adenoma (IPMA) 2956 9.23917121856119E-6
glioblastoma 5572 9.2595056766929E-5
psoriasis 6685 9.6983416861149E-5
adult high grade glioma 2148 1.87493393578152E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 6.19476515327413E-4
medulloblastoma, large-cell 6234 0.00133354291216233
pilocytic astrocytoma 3086 0.0016498746759772
cutaneous lupus erythematosus 1056 0.00284773072913066
primitive neuroectodermal tumor 3031 0.00439967150744241
chronic lymphosyte leukemia 232 0.0106422609201499
Pick disease 1893 0.0111091551254701
astrocytic glioma 2241 0.0153110695541713
oligodendroglioma 2849 0.0154581044419022
subependymal giant cell astrocytoma 2287 0.0172741396681642
colon cancer 1475 0.0355123125674741
Disease Target Count Z-score Confidence
Essential Hypertension 82 0.0 2.0
Disease Target Count
Brugada syndrome 26
Brugada syndrome 4 2

Expression

Gene

  Ortholog (12)

  TechDev Info (1)

Jing-Ruey Yeh gRNA validated for zebrafish model

Gene RIF (29)

PMID Text
25966706 Five serious mental disorders and three major cardiovascular diseases have recently been linked to the CACNB2 gene coding for the Cavbeta2 subunits
25313554 ADM genotype AA was associated with the highest values of systolic and diastolic blood pressure (BP), while CACNB2 genotype CC carriers had the highest values of diastolic BP in childhood.
25107449 Chronic atrial fibrillation increases miR-21 expression in human atrial myocytes and decreases I(Ca,L) density by downregulating CACNA1C/CACNB2 expression.
24901509 In the gene-based analysis, CACNB2 and CTCF showed the strongest evidence for association with schizophrenia in both the present samples and in those of the Psychiatric Genetics Consortium datasets.
24752249 Three rare missense mutations of CACNB2 (G167S, S197F, and F240L) found in Autism Spectrum Disorders (ASD)-affected families, are reported.
24338417 Association of the SNP rs2932538 in MOV10 and SNP rs4373814 in CACNB2 with an increased risk of hypertension in a Chinese Han population.
23414114 High prevalence of CACNA2D1, SCN5A, and CACNB2 genetic variants in the Danish population previously associated with Brugada syndrome has been found in new exome data.
22090166 Genetic testing reveals disease-causing mutations in depolarizing sodium (SCN5A) or calcium (CaCNB2b) channels in 5 infants with rapid ventricular tachycardia, conduction abnormalities, and Brugada-like syndrome.
21963141 Genetic variations in CYP17A1, CACNB2 and PLEKHA7 were related to blood pressure traits and/or hypertension in Chinese She population.
21156931 that genetic variation within CACNB2 may influence treatment-related outcomes in high-risk patients with hypertension.
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AA Sequence

MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQSYGKGARRKNRFKGSDGSTSSDTTSNSFVR      1 - 70
QGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVRTNVSYSAAHEDDVPVPGMAI     71 - 140
SFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLENMRLQHEQRAKQGKFYSSKSGGNSSSSLGD    141 - 210
IVPSSRKSTPPSSAIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPS    211 - 280
MRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSS    281 - 350
LAEVQSEIERIFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLN    351 - 420
VQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPT    421 - 490
LASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETFDSETQ    491 - 560
ESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDHRHRESRHRSRDVDREQDHNECNKQRSRHKS    561 - 630
KDRYCEKDGEVISKKRNEAGEWNRDVYIRQ                                            631 - 660
//

Text Mined References (67)

PMID Year Title
25966706 2015 CACNB2: An Emerging Pharmacological Target for Hypertension, Heart Failure, Arrhythmia and Mental Disorders.
25533460 2015 Direct interaction of CaV? with actin up-regulates L-type calcium currents in HL-1 cardiomyocytes.
25313554 2014 Physical, behavioural and genetic predictors of adult hypertension: the findings of the Kaunas Cardiovascular Risk Cohort study.
25107449 2014 Chronic atrial fibrillation increases microRNA-21 in human atrial myocytes decreasing L-type calcium current.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24901509 2014 Integrated pathway-based approach identifies association between genomic regions at CTCF and CACNB2 and schizophrenia.
24752249 2014 Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.
24338417 2013 Genetic variations in MOV10 and CACNB2 are associated with hypertension in a Chinese Han population.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23704328 2013 Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
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