Property Summary

NCBI Gene PubMed Count 19
PubMed Score 11.63
PubTator Score 7.19

Knowledge Summary

Patent (1,502)

TINX Plot

  Disease Sources (4)

Disease Target Count
Ovarian Cysts 34
Disease Target Count P-value
oligodendroglioma 2849 1.90039793515209E-15
ovarian cancer 8492 1.76039651457454E-11
ependymoma 2514 2.09364855953838E-11
pilocytic astrocytoma 3086 1.21975693011207E-7
atypical teratoid / rhabdoid tumor 4369 2.85031017029546E-7
glioblastoma 5572 6.95622421920431E-7
medulloblastoma, large-cell 6234 2.64509535905631E-6
malignant mesothelioma 3163 4.55864867873553E-6
medulloblastoma 1524 2.90024384050505E-5
astrocytoma 1493 4.2416381680621E-4
adult high grade glioma 2148 0.00154356491893466
subependymal giant cell astrocytoma 2287 0.00365675074053891
lung cancer 4473 0.0037568638356278
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00882926631938947
invasive ductal carcinoma 2950 0.0190549350439613
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0207845777110262
primitive neuroectodermal tumor 3031 0.036058114468415
Disease Target Count Z-score Confidence
Bipolar Disorder 266 0.0 1.0
Disease Target Count Z-score Confidence
Canavan disease 11 3.767 1.9

Expression

  Differential Expression (17)

Synonym

Accession P54284 A8K0Z4 B7Z4Q1 B7Z973 B7ZAK8 F5GZW7 F5H2P6 F8VSG3 Q13913 CAB3
Symbols CAB3
CACNLB3

Gene

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

 GWAS Trait (1)

Gene RIF (1)

PMID Text
19917615 in the presence of Pax6(S), beta(3) is translocated from the cytoplasm to the nucleus;full-length Ca(v)beta may act directly as a transcription regulator independent of its role in regulating Ca(2+) channel activity

AA Sequence

MYDDSYVPGFEDSEAGSADSYTSRPSLDSDVSLEEDRESARREVESQAQQQLERAKHKPVAFAVRTNVSY      1 - 70
CGVLDEECPVQGSGVNFEAKDFLHIKEKYSNDWWIGRLVKEGGDIAFIPSPQRLESIRLKQEQKARRSGN     71 - 140
PSSLSDIGNRRSPPPSLAKQKQKQAEHVPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDG    141 - 210
RISITRVTADLSLAKRSVLNNPGKRTIIERSSARSSIAEVQSEIERIFELAKSLQLVVLDADTINHPAQL    211 - 280
AKTSLAPIIVFVKVSSPKVLQRLIRSRGKSQMKHLTVQMMAYDKLVQCPPESFDVILDENQLEDACEHLA    281 - 350
EYLEVYWRATHHPAPGPGLLGPPSAIPGLQNQQLLGERGEEHSPLERDSLMPSDEASESSRQAWTGSSQR    351 - 420
SSRHLEEDYADAYQDLYQPHRQHTSGLPSANGHDPQDRLLAQDSEHNHSDRNWQRNRPWPKDSY          421 - 484
//

Text Mined References (20)

PMID Year Title
25527503 2015 Functional characterization of CaV?2? mutations associated with sudden cardiac death.
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
19917615 2010 The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6.
19807924 2009 Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.
16541075 2006 The finished DNA sequence of human chromosome 12.
16525042 2006 Alternative splicing of the voltage-gated Ca2+ channel beta4 subunit creates a uniquely folded N-terminal protein binding domain with cell-specific expression in the cerebellar cortex.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15170217 2004 Structural basis of the alpha1-beta subunit interaction of voltage-gated Ca2+ channels.
15028279 2004 PCR isolation and cloning of novel splice variant mRNAs from known drug target genes.
More...