CACNB4
entrez
785
canonical
uniprot
O00305
canonical
ensembl
ENSG00000182389
resolver
ensp
ENSP00000201943
resolver
ensp
ENSP00000390161
resolver
ensp
ENSP00000438949
resolver
ensp
ENSP00000443893
resolver
ensp
ENSP00000489677
resolver
ensp
ENSP00000489732
resolver
ensp
ENSP00000489787
resolver
ensp
ENSP00000489788
resolver
ensp
ENSP00000489883
resolver
ensp
ENSP00000490127
resolver
ensp
ENSP00000490247
resolver
ensp
ENSP00000490250
resolver
ensp
ENSP00000490304
resolver
ensp
ENSP00000490430
resolver
ensp
ENSP00000490510
resolver
enst
ENST00000439467
resolver
enst
ENST00000636598
resolver
enst
ENST00000637217
resolver
enst
ENST00000637284
resolver
enst
ENST00000637491
resolver
enst
ENST00000637514
resolver
enst
ENST00000637779
resolver
enst
ENST00000638040
resolver
genesymbol
CACNB4
resolver
genesymbol_syn
CACNLB4
resolver
hgnc
HGNC:1404
resolver
uniprot
A0A1B0GTK1
resolver
uniprot
A0A1B0GTP5
resolver
uniprot
A0A1B0GTX8
resolver
uniprot
A0A1B0GVG9
resolver
uniprot
A7BJ74
resolver
uniprot
A8K1Y4
resolver
uniprot
B4DG40
resolver
uniprot
E7DBM8
resolver
uniprot
F8WA06
resolver
uniprot
H0Y476
resolver
uniprot
O60515
resolver
uniprot
Q6B000
resolver
uniprot
Q96L40
resolver
uniprot_entry
A0A1B0GTK1_HUMAN
resolver
uniprot_entry
A0A1B0GTP5_HUMAN
resolver
uniprot_entry
A0A1B0GTX8_HUMAN
resolver
uniprot_entry
A0A1B0GVG9_HUMAN
resolver
uniprot_entry
CACB4_HUMAN
resolver
uniprot_entry
E7DBM8_HUMAN
resolver
uniprot_entry
H0Y476_HUMAN
resolver
uniprot_sec
A7BJ74
resolver
uniprot_sec
A8K1Y4
resolver
uniprot_sec
B4DG40
resolver
uniprot_sec
F8WA06
resolver
uniprot_sec
O60515
resolver
uniprot_sec
Q6B000
resolver
uniprot_sec
Q96L40
resolver
amino_acid_sequence
MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIFELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269|PubMed:10762541}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269|PubMed:10762541}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. {ECO:0000269|PubMed:10762541}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. {ECO:0000269|PubMed:11880487}.
uniprot
proteins
mass_dalton
58169
uniprot
proteins
protein_family
Calcium channel beta subunit family
uniprot
proteins
pubmed
10762541
uniprot
proteins
pubmed
11880487
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16385006
uniprot
proteins
pubmed
17618603
uniprot
proteins
pubmed
19807924
uniprot
proteins
pubmed
9254841
uniprot
proteins
pubmed
9628818
uniprot
proteins
sequence_length
520
uniprot
proteins