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FLASH GENE

Symbol

CACNB4

contributors: - updated : 24-11-2006

HGNC name	calcium channel, voltage-dependent, beta 4 subunit
HGNC id	1404

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	260.00 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

with a split exon 1 (1A,1B)

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D2S356 - CACNB4 /D2S2275 /D2S2236 ,D2S2241 - qter
Authors	Betz (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 - - 3079 58 520 - Chen an alternate in-frame exon in the 5'UTR and in the coding region, also using an upstream start codon variant 3 - - 3062 - 502 - Chen see variant 2 variant 1 - - 3185 - 486 - Chen the longest transcript

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain cerebellum   predominantly   spinal cord         Respiratory respiratory tract trachea       Urinary kidney       predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage	lymphoblasts
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one SH3 domain

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	homolog to murine epilepsy gene lethargic
	homolog to murine Cacnb4

Homologene

FAMILY

beta subunit family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

basic FUNCTION	calcium voltage-gated channel (VDCC)
	modulator of calcium currents
	participating in the membrane trafficking of the alpha 1 subunits
	contributing 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
	playing a critical role in T lymphocyte function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

text	calcium ion transport

PATHWAY

metabolism

signaling

a component

L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma

INTERACTION

DNA

RNA

small molecule

protein

binding to CNGA2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EA5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in generalized epilepsy and juvenilemyoclonic epilepsy

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS