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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
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
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 4282 - 367 - 2016 27287695
    15 splicing 4182 - 353 - 2016 27287695
    16 splicing 4224 - 367 - 2016 27287695
    16 splicing 4298 - 367 - 2016 27287695
    16 splicing 4172 - 415 - 2016 27287695
    14 splicing 3690 - - - 2016 27287695
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Respiratorylung    
    Skin/Tegumentskin   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    Lymphoid/Immunelymphocyte
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    tumor  
    potential new target and pharmacological candidate to be considered in the development of clinical therapeutics for acromegaly
    cancerlung 
    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 (