Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CACNB2

contributors: mct - updated : 23-12-2012

HGNC name	calcium channel, voltage-dependent, beta 2 subunit
HGNC id	1402

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	locus Control Region
STRUCTURE	401.08 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_201571 14 - 4301 - 632 - 1999 10441130 NM_201596 14 - 4078 - 660 - 1999 10441130 NM_201590 13 - 4098 - 606 - 1999 10441130 NM_201597 14 - 4006 - 636 - 1999 10441130 NM_201593 14 - 3964 - 622 - 1999 10441130 NM_000724 13 - 4468 - 605 - 1999 10441130 NM_201570 13 - 4322 - 612 - 1999 10441130 NM_201572 14 - 4229 - 608 - 1999 10441130 NM_001167945 14 - 4178 - 594 - 1999 10441130

EXPRESSION

Type

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 Hearing/Equilibrium ear inner       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

SH3, HOOK, and guanylate kinase (GK) domains important for AHNAK interaction while the C- and N-terminal regions were dispensable (pMID: 22497893)

HOMOLOGY

Homologene

FAMILY

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	calcium voltage-gated channel (VDCC), L (long lasting) type
	has an essential role in regulating the abundance and properties of CACNA1D channels in inner hair cell and, thereby, is critical for inner hair cell development and synaptic encoding of sound

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	CAMK2A forms stable complexes with voltage-gated calcium channel CACNB1 or CACNB2

INTERACTION

DNA

RNA

small molecule

protein	interacting with RRAD (dominant negative suppression of RRAD leads to QT prolongation and causes ventricular arrhythmias via modulation of CACNB2 in the heart)
	phosphorylation of Ser-296 CACNB2 affects AHNAK interaction in a complex manner and is a leading candidate for optional PKA-mediated modulation of L-type Ca2+ channel activity in the heart

cell & other

REGULATION

Other

phosphorylated by PRKG2

ASSOCIATED DISORDERS

corresponding disease(s)

BRGS4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Otoacoustic emissions were reduced or absent in Ca(V)beta(2)(-/-) mice, which showed strongly elevated auditory thresholds in single neuron recordings and auditory brainstem response measurements