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FLASH GENE

Symbol

KCNMB3

contributors: - updated : 31-01-2007

HGNC name	potassium large conductance calcium-activated channel, subfamily M beta member 3
HGNC id	6287

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3q26.3-q27.1      Physical location : 178.957.536 - 178.984.838
Synonym name	maxi K channel beta 3 subunit
Synonym symbol(s)	KCNMB2, KCNMBL

DNA

TYPE	functioning gene
STRUCTURE	24.00 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
motif
text structure	several factor binding motifs in the 5'utr

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

situated in the duplication region dup(Bq)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed KCNMB3b - - 1709 - 257 pancreas Uebele KCNMB3c - - 1835 - 275 pancreas Uebele KCNMB3a - - 1272 - 277 widely, testis Uebcle KCNMB3d - - 1492 - 279 widely, testis Uebele

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 Cardiovascular heart         Endocrine pancreas       predominantly   thyroid         Lymphoid/Immune lymph node         Reproductive female system ovary       Urinary bladder

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two membrane domains with a large extracellular loop
	a potentially coiled coil structure
	a N glycosylation region
	extracellular domain with disulfide bond essential for the gating mechanism

HOMOLOGY

Homologene

FAMILY	subfamily M, modulatory beta member 3
	KCNMB family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	potassium non voltage gated large conductance calcium activated channel
	fundamental in the control of smooth muscle tone and neuronal excitability
	auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

neurotransmission , signal transduction

a component

calcium activated potassium (BK) channel

INTERACTION

DNA

RNA

small molecule

protein

interacts with KCNMA1 tetramer, (its effects on KCNMA1 channel properties were slight, increasing KCNMA1 activation rates)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to idiopathic generalized epilepsy, or typical absence seizures

Variant & Polymorphism insertion/deletion	delA750 mutation was significantly increased in idiopathic generalized epilepsy, or typical absence seizures

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS