Property Summary

NCBI Gene PubMed Count 35
PubMed Score 32.21
PubTator Score 17.93

Knowledge Summary

Patent (5,640)

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytic glioma -1.400 0.018
posterior fossa group A ependymoma -2.200 0.000
oligodendroglioma -1.500 0.024
glioblastoma -2.200 0.000
medulloblastoma -2.700 0.000
atypical teratoid / rhabdoid tumor -2.200 0.000
medulloblastoma, large-cell -2.200 0.000
primitive neuroectodermal tumor -1.800 0.000
lung cancer -1.300 0.003
pediatric high grade glioma -1.900 0.000
pilocytic astrocytoma -1.700 0.000
Pick disease -1.200 0.002
ovarian cancer 1.100 0.000
psoriasis 1.800 0.000

Synonym

Accession O00305 A7BJ74 A8K1Y4 B4DG40 O60515 Q6B000 Q96L40 CAB4
Symbols EA5
EJM
CAB4
EIG9
EJM4
EJM6
CACNLB4

Gene

PDB

1VYV   2D46  

Gene RIF (11)

PMID Text
24875574 The nuclear targeting properties of the truncated beta(4b(1-481)) subunit in tsA-201 cells, skeletal myotubes, and in hippocampal neurons, were investigated.
23756480 Genome-wide association studies identify CACNB4 mutation releated to juvenile myoclonic epilepsy.
22892567 Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy
21297076 CACNB4 is associated with acute lung injury in mice
21220418 The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 gama via a PXVXL binding motif.
20200978 Observational study of gene-disease association. (HuGE Navigator)
18755274 proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca(v)2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons
18755274 Observational study of gene-disease association. (HuGE Navigator)
18712068 plays a role in neurotransmitter release.
18446307 No pathogenic mutation were identified in CACNB4.
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AA Sequence

MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDR      1 - 70
EAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGR     71 - 140
LVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHI    141 - 210
PPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAII    211 - 280
ERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRG    281 - 350
KSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGS    351 - 420
TALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEE    421 - 490
DYPDSYQDTYKPHRNRGSPGGYSHDSRHRL                                            491 - 520
//

Text Mined References (35)

PMID Year Title
24875574 2014 The juvenile myoclonic epilepsy mutant of the calcium channel ?(4) subunit displays normal nuclear targeting in nerve and muscle cells.
24025145 2013 A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
23756480 2013 The quest for juvenile myoclonic epilepsy genes.
22892567 2012 Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.
21297076 2011 Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.
21220418 2011 The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 via a PXVXL binding motif.
20200978 2010 Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
19807924 2009 Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.
18755274 2008 A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.
18712068 2008 [Physiological role of presynaptic Ca2+ channel complexes on neurotransmitter release].
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