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FLASH GENE

Symbol

KCNB2

contributors: mct/npt - updated : 21-01-2020

HGNC name	potassium voltage-gated channel, Shab-related subfamily, member 2
HGNC id	6232

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NDSEA neurodevelopmental syndrome with epilepsy and autism
Location	8q21.11      Physical location : 73.449.625 - 73.850.582
Synonym name	voltage-gated potassium channel subunit Kv2.2
	delayed rectifier potassium channel protein
Synonym symbol(s)	KV2.2

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	408.67 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif

repetitive sequence

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D8S279 - KCNB2 - D8S526 - qter
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004770 3 - 3748 NP_004761 102.5 911 - 2012 22422395

EXPRESSION

Type	restricted

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 Endocrine pancreas         Nervous brain         Homo sapiens   brain forebrain       Homo sapiens   spinal cord         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular exocrine   Nervous central       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Nervous neuron Homo sapiens Nervous pyramidal cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six putative membrane-spanning domains
	an hydrophobic pore including the P domain with the K+ channel signature
	TM domains 5 and 6, sensitive to changes in membrane potential

HOMOLOGY

interspecies

homolog to Drosophila Shab-related subfamily

Homologene

FAMILY	potassium channel, voltage-gated, shab-related subfamily
	KCNB family of voltage-gated potassium channels

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in repolarization of excitable cells (Yan 2004)
	playing a role in regulating the excitability of superior cervical ganglion neurons (Malin 2002)
	kCNB1, KCNB2 are important regulators of neuronal excitability in mammalian brain
	KCNB1 regulates insulin secretion in beta-cells and KCNB2 modulates somatostatin release in delta-cells
	KCNB1, KCNB2 exhibit distinct responses to acute phosphorylation-dependent regulation in brain neurons in situ

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

key function of the pyruvate-isocitrate cycle is to maintain levels of KCNB2 expression sufficient to allow it to serve as a negative regulator of Kv channel activity

cell & other

REGULATION

Other

modulated by KCNS2

ASSOCIATED DISORDERS

corresponding disease(s)

NDSEA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS