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FLASH GENE
Symbol KCNAB2 contributors: shn - updated : 04-08-2011
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
    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
    Physical map
    LOC388589 1 LOC388589 LOC126772 1p36.31 similar to erythrocyte membrane-associated giant protein antigen 332 NPHP4 1p36.22 nephronophthisis 4 LOC388590 1 LOC388590 KCNAB2 1p36.3 potassium voltage-gated channel, shaker-related subfamily, beta member 2 CHD5 1p36.23 chromodomain helicase DNA binding protein 5 RPL22 1p36.3-p36.2 ribosomal protein L22 LOC388591 1 hypothetical gene supported by AK128246 FLJ32096 1p36.23 hypothetical protein FLJ32096 ICMT 1p36.21 isoprenylcysteine carboxyl methyltransferase MGC40168 1p36.23 hypothetical protein MGC40168 LOC390992 1 similar to helix-loop-helix transcription factor GPR153  G protein-coupled receptor 153 BACH 1p36.2 G protein-coupled receptor 153 LOC388592 1 similar to Transcription factor HES-2 (Hairy and enhancer of split 2) ESPN 1p36.31-p36.11 espin TNFRSF25 1p36.2 tumor necrosis factor receptor superfamily, member 25 KIAA0720 1p36.23 tumor necrosis factor receptor superfamily, member 25 FLJ23323 1p36.23 hypothetical protein FLJ23323 TAS1R1 1p36.23 taste receptor, type 1, member 1 HKR3 1p36.31 GLI-Kruppel family member HKR3 KIAA0469 1p36.23 KIAA0469 gene product PHF13 1p36.23 PHD finger protein 13 MGC33488 1p36.23 hypothetical protein MGC33488 FLJ10737 1p36.23 hypothetical protein FLJ10737 CAMTA1 1p36.31-p36.23 calmodulin binding transcription activator 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 4282 - 367 - -
    15 splicing 4182 - 353 - -
    16 splicing 4224 - 367 - -
    16 splicing 4298 - 367 - -
    16 splicing 4172 - 415 - -
    14 splicing 3690 - - - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    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     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • modulate voltage-gated potassium currents in heterologous expression systems
  • modulating the activity of the pore-forming alpha subunit
  • 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 (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL1P36
    Susceptibility to epilepsia
    Variant & Polymorphism
    Candidate gene for seizures in del1p36 syndrome, primary gene or modifier
    Marker
    Therapy target
    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 (