| Type | Description |
|---|---|
| Definition | calcium voltage-gated channel auxiliary subunit beta 4 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-20 12:39:00 | The homozygous CACNB4 p.(Leu126Pro) variant underlies the severe neurological phenotype in the two siblings. | 32176688 |
| 2015-06-20 10:32:00 | The nuclear targeting properties of the truncated beta(4b(1-481)) subunit in tsA-201 cells, skeletal myotubes, and in hippocampal neurons, were investigated. | 24875574 |
| 2014-02-01 10:08:00 | Genome-wide association studies identify CACNB4 mutation releated to juvenile myoclonic epilepsy. | 23756480 |
| 2012-12-08 10:02:00 | Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy | 22892567 |
| 2011-05-21 10:10:00 | The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 gama via a PXVXL binding motif. | 21220418 |
| Type | IDs |
|---|---|
| Synonymous | CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6 |
| Gene |
UniProtKB-ID:
CACB4_HUMAN,
A0A1B0GTP5_HUMAN,
A0A1B0GTX8_HUMAN,
H0Y476_HUMAN,
A0A1B0GTK1_HUMAN
UniprotKB:
O00305,
A0A1B0GTP5,
A0A1B0GTX8,
H0Y476,
A0A1B0GTK1
UniParc:
UPI0000EB1604,
UPI0007DC6EF5,
UPI0001593558,
UPI0000451CA2,
UPI00004DED99,
UPI0000451CA1,
UPI0007DC4DDF,
UPI0000208F1E
EMBL:
AK316045,
AB302276,
AF038852,
AC068547,
AY054985,
AK290049,
U95020,
BC075049,
AC097448,
CH471058,
AC079790,
AK294398
Ensembl:
ENSG00000182389
KO:
hsa:785
|
| Nucleutide sequences |
EMBL-CDS:
EAX11494.1,
AAH75049.1,
AAB53333.1,
BAF73808.1,
AAL14351.1,
BAH14416.1,
BAF82738.1,
AAC24206.1,
BAG57651.1
Ensembl_TRS:
ENST00000638005,
ENST00000539935,
ENST00000201943,
ENST00000534999,
ENST00000637514,
ENST00000637284,
ENST00000638040,
ENST00000636598,
ENST00000439467,
ENST00000637217,
ENST00000637779
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000438949,
ENSP00000489677,
ENSP00000443893,
ENSP00000201943,
ENSP00000490304,
ENSP00000489787,
ENSP00000489883,
ENSP00000390161,
ENSP00000490250,
ENSP00000490247,
ENSP00000489732
RefSeq:
NP_001005747.1,
XP_016860377.1,
NP_000717.2,
XP_016860374.1,
NP_001317044.1,
NP_001139270.1,
NP_001317047.1,
NP_001307651.1,
XP_011510099.1,
XP_011510098.1,
NP_001317046.1,
NP_001317042.1,
NP_001005746.1,
NP_001317045.1,
NP_001317043.1,
XP_024308896.1
|
| Others |
UniRef100:
UniRef100_A0A1B0GTX8,
UniRef100_H0Y476,
UniRef100_O00305,
UniRef100_A0A1B0GTK1,
UniRef100_A0A1B0GTP5
UniRef90:
UniRef90_A0A1B0GTK1,
UniRef90_A0A1B0GTP5,
UniRef90_H2P7J8,
UniRef90_Q8R0S4,
UniRef90_A0A452QIC3
UniRef50:
UniRef50_Q8R0S4,
UniRef50_A0A287D970,
UniRef50_A0A670ZUK3,
UniRef50_A0A2I3GDT9
UniGene:
Hs.120725
CCDS:
CCDS54409.1,
CCDS46428.1,
CCDS46426.1,
CCDS46427.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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