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FLASH GENE

Symbol

KCNAB2

contributors: shn - updated : 28-02-2024

HGNC name	potassium voltage-gated channel, shaker-related subfamily, beta member 2
HGNC id	6229

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL1P36 chromosome 1p subtelomeric deletion syndrome
Location	1p36.31      Physical location : 6.086.379 - 6.160.523
Synonym name	K(+) channel subunit beta-2
	kv-beta-2
	neuroimmune protein F5
	potassium voltage gated channel, shaker related subfamily, beta member 2
	voltage-gated potassium channel subunit beta-2
Synonym symbol(s)	KCNA2B, AKR6A5, KCNK2, KVB2, HKvbeta2.1, HKvbeta2.2, RP1-233K16.1, KV-BETA-2, MGC117289
EC.number	1.1.1.-

DNA

TYPE	functioning gene
STRUCTURE	108.90 kb     16 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	pter - D1S2795 - D1S2633 - KCNAB2 - D1S2870 - D1S253 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001199861 (transcript variant 4) 16 splicing 4282 NP_001186790 - 367 - 2016 27287695 NM_172130 (transcript variant 2) 15 splicing 4182 NP_742128 - 353 - 2016 27287695 NM_003636 (transcript variant 1) 16 splicing 4224 NP_003627 - 367 - 2016 27287695 NM_001199860 (transcript variant 3) 16 splicing 4298 NP_001186789 - 367 - 2016 27287695 NM_001199862 (transcript variant 5) 16 splicing 4172 NP_001186791 - 415 - 2016 27287695 NM_001199863 (transcript variant 6) 14 splicing 3690 NP_001186792 - - - 2016 27287695

EXPRESSION

Type

widely

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       highly Homo sapiens Lymphoid/Immune thymus       highly Nervous brain       highly Respiratory lung         Skin/Tegument skin       highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

non integral protein

mono polymer

tetramer , complex

HOMOLOGY

interspecies	ortholog to Kcnab2, Mus musculus
	ortholog to Kcnab2? Rattus norvegicus
	ortholog to KCNAB2, Pan troglodytes
	ortholog to kcnab2? Danio rerio

Homologene

FAMILY

aldo-ketoreductase (AKR) superfamily

CATEGORY

enzyme , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic

basic FUNCTION	modulate voltage-gated potassium currents in heterologous expression systems
	modulating the activity of the pore-forming alpha subunit
	encodes an aldo-keto reductase that, among other things, negatively regulates members of the voltage-gated potassium channel (Kv) family
	RORB1, PPFIA1 and KCNAB2 are differentially spliced in the foveal, parafoveal and macular regions

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	channel constituent (coassembly in the endoplasmic reticulum with the channel forming alpha subunits)
	forming a ternary complex with SQSTM1 and PRKCZ

INTERACTION

DNA

RNA

small molecule

protein	associating by its N terminus with beta subunits
	SLC39A1, SLC39A2 and PRKCZ
	ZIP3 (
	interaction of KCNAB2 and TRPV1 may play a role in TRPV1 channel trafficking to the plasma membrane

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL1P36

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function can contribute to the Brugada electrocardiographic pattern

Susceptibility

to epilepsia

Variant & Polymorphism

Candidate gene	for seizures in del1p36 syndrome, primary gene or modifier
Marker	can be exploited as a predictive biomarker for evaluating prognosis in Lung adenocarcinoma (LUAD)
Therapy target
	System Type Disorder Pubmed tumor     potential new target and pharmacological candidate to be considered in the development of clinical therapeutics for acromegaly cancer lung   possible immunotherapeutic target in Lung adenocarcinoma (LUAD)

ANIMAL & CELL MODELS

	Kvbeta2-null mice have reduced life spans, occasional seizures, and cold swim-induced tremors (
	mice deleted for KCNAB2 leads to deficits in associative learning and memory, a reduction in the slow afterhyperpolarization following a burst of action potentials and a concomitant increase in neuronal excitability in projection neurons in the lateral nucleus of the amygdala (