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KCNAB2 Gene

protein-coding   GIFtS: 63
GCID: GC01P006020

Potassium Voltage-Gated Channel, Shaker-Related Subfamily,...

  See KCNAB2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Beta Member
21 2
     KV-BETA-22
KCNA2B2 3 5     K+ Channel Beta-2 Subunit2
K(+) Channel Subunit Beta-22 3     Potassium Channel Shaker Chain Beta 22
AKR6A52     Voltage-Gated Potassium Channel Subunit Beta-22
HKvbeta22     KCNK23
HKvbeta2.12     Kv-beta-23
HKvbeta2.22     hKvbeta23

External Ids:    HGNC: 62291   Entrez Gene: 85142   Ensembl: ENSG000000694247   OMIM: 6011425   UniProtKB: Q133033   

Export aliases for KCNAB2 gene to outside databases

Previous GC identifers: GC01P005677 GC01P005909 GC01P005795 GC01P005235


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNAB2 Gene:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both
functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart
rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and
cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified
in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium
channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary
proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4
gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct
isoforms. (provided by RefSeq, Dec 2010)

GeneCards Summary for KCNAB2 Gene:
KCNAB2 (potassium voltage-gated channel, shaker-related subfamily, beta member 2) is a protein-coding gene. Diseases associated with KCNAB2 include 1p36 deletion syndrome. GO annotations related to this gene include potassium channel regulator activity and voltage-gated potassium channel activity. An important paralog of this gene is AKR7A3.

UniProtKB/Swiss-Prot: KCAB2_HUMAN, Q13303
Function: Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit.
Alters functional properties of Kv1.4

summary for KCNAB2 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNAB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNAB2 gene promoter:
         SRF   SRF (504 AA)   NRSF form 1   NRSF form 2   AREB6   PPAR-gamma1   PPAR-gamma2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNAB2 promoter sequence
   Search Chromatin IP Primers for KCNAB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNAB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.3   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36.3

KCNAB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNAB2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P006020:  view genomic region     (about GC identifiers)

Start:
6,051,526 bp from pter      End:
6,161,253 bp from pter
Size:
109,728 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCAB2_HUMAN, Q13303 (See protein sequence)
Recommended Name: Voltage-gated potassium channel subunit beta-2  
Size: 367 amino acids; 41000 Da
Subunit: Forms heteromultimeric complex with alpha subunits. Forms a ternary complex with SQSTM1 and PRKCZ (By
similarity)
1 PDB 3D structure from and Proteopedia for KCNAB2:
1ZSX (3D)    
Secondary accessions: A0AVM9 A8K1A4 B0AZR7 O43659 Q5TG82 Q5TG83 Q6ZNE4 Q99411
Alternative splicing: 4 isoforms:  Q13303-1   Q13303-2   Q13303-3   Q13303-4   

Explore the universe of human proteins at neXtProt for KCNAB2: NX_Q13303

Explore proteomics data for KCNAB2 at MOPED

Post-translational modifications: 

  • Phosphorylated by PRKCZ; may be regulated by incorporation in a complex composed of PRKCZ and SQSTM1 (By
    similarity)1
  • Ubiquitination2 at Lys268, Lys290
  • Modification sites at PhosphoSitePlus

  • See KCNAB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001186789.1  NP_001186790.1  NP_001186791.1  NP_001186792.1  NP_003627.1  NP_742128.1  

    ENSEMBL proteins: 
     ENSP00000367351   ENSP00000367337   ENSP00000367332   ENSP00000398395   ENSP00000374283  
     ENSP00000400285   ENSP00000473602   ENSP00000389151   ENSP00000164247   ENSP00000464860  
     ENSP00000367323   ENSP00000465785   ENSP00000367327   ENSP00000340824   ENSP00000318772  
     ENSP00000396167  
    Reactome Protein details: Q13303

    KCNAB2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for KCNAB2 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KCN: Potassium channels
    AKR: Aldo-keto reductases

    5 InterPro protein domains:
     IPR001395 Aldo/ket_red
     IPR005401 K_chnl_volt-dep_bsu_KCNAB2
     IPR023210 NADP_OxRdtase_dom
     IPR005399 K_chnl_volt-dep_bsu_KCNAB-rel
     IPR005983 K_chnl_volt-dep_bsu_KCNAB

    Graphical View of Domain Structure for InterPro Entry Q13303

    ProtoNet protein and cluster: Q13303

    3 Blocks protein domains:
    IPB001395 Aldo/keto reductase
    IPB005399 KCNAB voltage-gated K+ channel beta subunit family signature
    IPB005401 KCNAB voltage-gated K+ channel beta-2 subunit signature


    UniProtKB/Swiss-Prot: KCAB2_HUMAN, Q13303
    Domain: Alteration of functional properties of alpha subunit is mediated through N-terminal domain of beta subunit
    (Probable)
    Similarity: Belongs to the shaker potassium channel beta subunit family


    Find genes that share domains with KCNAB2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCAB2_HUMAN, Q13303
    Function: Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit.
    Alters functional properties of Kv1.4

         Genatlas biochemistry entry for KCNAB2:
    potassium voltage-gated channel,Drosophila shaker-related subfamily,mainly expressed in the brain,auxiliary beta 2
    cytoplasmic peptide,co assembly in the endoplasmic reticulum with the channel forming alpha subunits,modulating
    the amplitude of K+ currents

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005249voltage-gated potassium channel activity IEA--
    GO:0005515protein binding ----
    GO:0015459potassium channel regulator activity TAS7649300
         
    Find genes that share ontologies with KCNAB2           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnab2):
     behavior/neurological  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging 
     nervous system  normal 

    Find genes that share phenotypes with KCNAB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kcnab2tm1Kmc for KCNAB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNAB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCNAB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNAB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNAB2

    miRNA
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    miRTarBase miRNAs that target KCNAB2:
    hsa-mir-124-3p (MIRT022916)

    Block miRNA regulation of human, mouse, rat KCNAB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNAB2 (see all 20):
    hsa-miR-3194-5p hsa-miR-486-3p hsa-miR-3605-5p hsa-miR-548g hsa-miR-1255a hsa-miR-1293 hsa-miR-497* hsa-miR-616
    SwitchGear 3'UTR luciferase reporter plasmidKCNAB2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KCNAB2

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNAB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCAB2_HUMAN, Q13303: Cytoplasm (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    mitochondrion2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0044224juxtaparanode region of axon ISS--

    Find genes that share ontologies with KCNAB2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNAB2 About    
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Biological oxidations
    metapathway biotransformation0.42
    4Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway
    5Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics


    Find genes that share SuperPaths with KCNAB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNAB2
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 BioSystems Pathway for KCNAB2
        metapathway biotransformation


    1 Reactome Pathway for KCNAB2
        Voltage gated Potassium channels

    1 PharmGKB Pathway for KCNAB2
        Antiarrhythmic Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNAB2: 
              Neuronal Ion Channels in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KCNAB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNAB2 (Q133032, 3 ENSP000001642474) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2865350 I2D: score=3 STRING: ENSP00000244769
    SQSTM1Q135013, ENSP000003744554I2D: score=5 STRING: ENSP00000374455
    KCNA2P163893, ENSP000003145204I2D: score=4 STRING: ENSP00000314520
    PRKCZQ055133, ENSP000003678304I2D: score=2 STRING: ENSP00000367830
    SLC39A1Q9NY263, ENSP000003097104I2D: score=1 STRING: ENSP00000309710
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport ----
    GO:0007268synaptic transmission TAS--
    GO:0051291protein heterooligomerization IEA--

    Find genes that share ontologies with KCNAB2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNAB2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    1 HMDB Compound for KCNAB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNAB2 gene (6 alternative transcripts): 
    NM_001199860.1  NM_001199861.1  NM_001199862.1  NM_001199863.1  NM_003636.3  NM_172130.2  

    Unigene Cluster for KCNAB2:

    Potassium voltage-gated channel, shaker-related subfamily, beta member 2
    Hs.440497  [show with all ESTs]
    Unigene Representative Sequence: NM_001199860
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000378111 ENST00000378097(uc009vlv.2 uc001alv.2 uc001alw.2)
    ENST00000493807 ENST00000378092 ENST00000478098 ENST00000445501 ENST00000389632
    ENST00000428161 ENST00000602612 ENST00000435937 ENST00000164247(uc001alx.2)
    ENST00000459822 ENST00000472700 ENST00000378083(uc001aly.2 uc009vlw.2)
    ENST00000462676 ENST00000481789 ENST00000378087 ENST00000341524(uc001alu.3)

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    hsa-miR-3194-5p hsa-miR-486-3p hsa-miR-3605-5p hsa-miR-548g hsa-miR-1255a hsa-miR-1293 hsa-miR-497* hsa-miR-616
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    Additional mRNA sequence: 

    AF029749.1 AF044253.1 AK124696.1 AK131252.1 AK289819.1 AK290044.1 AK312395.1 AK312871.1 
    AK315811.1 AK315858.1 BC126424.1 BC130413.1 CR542264.1 CR542287.1 U33429.1 

    Selected DOTS entries (see all 28):

    DT.95370268  DT.97802184  DT.95219163  DT.101981038  DT.99957606  DT.100779762  DT.100779755  DT.99975570 
    DT.452418  DT.121349996  DT.99987894  DT.97847082  DT.75103224  DT.121349988  DT.121350005  DT.121350014 
    DT.121349967  DT.121350015  DT.121350082  DT.121350086  DT.40274591  DT.75195081  DT.99949811  DT.102839668 

    Selected AceView cDNA sequences (see all 238):

    CB216399 BF514486 BU183035 BM467561 AW327942 NM_172130 BF724574 BU171590 
    AF044253 BM925038 AL582057 AI261585 AF029749 NM_003636 CR592084 AI056721 
    AU143388 BG060109 BU855894 BX644940 BQ682316 BQ053241 BI752232 BI907219 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KCNAB2 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
    SP1:                                -     -     -           -           -     -     -     -           -                                   -           -         
    SP2:                                                                                -                 -                                   -                     
    SP3:              -     -     -     -     -     -           -           -     -     -     -           -                                   -           -         
    SP4:                                            -           -           -     -     -     -           -                                                         
    SP5:              -     -     -     -     -     -           -     -     -     -     -     -           -                                                         

    ExUns: 20 ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25a · 25b ^ 26
    SP1:              -                                             
    SP2:              -                                             
    SP3:              -                                             
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for KCNAB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    KCNAB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATAATGT
    KCNAB2 Expression
    About this image


    KCNAB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
    KCNAB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNAB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.440497
        Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNAB2: 
              Neuronal Ion Channels in human mouse rat
              Huntington's Disease in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KCNAB2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnab21 , 5 potassium voltage-gated channel, shaker-related subfamily, more1, 5 90.27(n)1
    98.78(a)1
      4 (83.08 cM)5
    164981  NM_010598.31  NP_034728.21 
     1523907425 
    chicken
    (Gallus gallus)
    Aves KCNAB21 potassium voltage-gated channel, shaker-related subfamily, more 85.38(n)
    93.98(a)
      396068  XM_003642509.2  XP_003642557.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNAB26
    potassium voltage-gated channel, shaker-related su...
    98(a)
    1 ↔ 1
    AAWZ02035903(4155-4917)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.14072 Xenopus laevis potassium channel beta 2 subunit mRNA, more 79.13(n)    AF172144.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnab21 potassium voltage-gated channel, shaker-related subfamily, more 76.95(n)
    87.95(a)
      797337  XM_002663828.3  XP_002663874.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hk3 potassium ion transport voltage-gated
    potassium more
    49(a)   1 9B5   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative aryl alcohol dehydrogenase; transcription...
    25(a)
    1 → many
    XVI(381965-382993) YPL088W
    rice
    (Oryza sativa)
    Liliopsida AK072707.12   -- 75.33(n)    AK072707.1 


    ENSEMBL Gene Tree for KCNAB2 (if available)
    TreeFam Gene Tree for KCNAB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNAB2 gene
    AKR7A32  KCNAB12  KCNAB32  AKR7L2  AKR7A22  
    2 SIMAP similar genes for KCNAB2 using alignment to 12 protein entries:     KCAB2_HUMAN (see all proteins):
    KCNAB1    KCNAB3

    Find genes that share paralogs with KCNAB2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNAB2 (see all 2507)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1458868651,2
    --5241285(+) CTGGTC/TAATCA 1 -- us2k10--------
    rs1385276941,2
    C--6054542(+) ACATCC/TCTCGA 1 -- int10--------
    rs1440660621,2
    --6054605(+) CCTGCA/GCCAGT 1 -- int10--------
    rs66706661,2
    H--6054625(+) CTTTGT/GAGGTG 1 -- int14Minor allele frequency- G:0.00NS EA 412
    rs5061171,2
    F,H--6054688(-) TTCACA/GCTTTT 1 -- int16Minor allele frequency- G:0.00EA MN NS 686
    rs1473301581,2
    --6054741(+) GGATTC/TGGAGC 1 -- int10--------
    rs1386125711,2
    --6054887(+) GTCATC/TTTCTA 1 -- int10--------
    rs1492571411,2
    --6054910(+) TTCAGG/TAGGAA 1 -- int10--------
    rs1444906711,2
    --6055008(+) CTGCCA/GTGGTA 1 -- int10--------
    rs1484379091,2
    --6055009(+) TGCCGG/TGGTAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for KCNAB2 (6051526 - 6161253 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNAB2 (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668412CNV Deletion23128226
    esv2738028CNV Deletion23290073
    esv2738250CNV Deletion23290073
    esv2470104CNV Deletion19546169
    esv2739028CNV Deletion23290073
    esv2738806CNV Deletion23290073
    esv2671721CNV Deletion23128226
    esv2738139CNV Deletion23290073
    esv2738362CNV Deletion23290073
    esv2738917CNV Deletion23290073

    Human Gene Mutation Database (HGMD): KCNAB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNAB2
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNAB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601142    OMIM disorders: --

    1 disease for KCNAB2:    
    About MalaCards
    1p36 deletion syndrome

    1 disease from the University of Copenhagen DISEASES database for KCNAB2:
    Episodic ataxia

    Find genes that share disorders with KCNAB2           About GenesLikeMe


    Export disorders for KCNAB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KCNAB2 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with KCNAB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternative splicing of the human Shaker K+ channel beta 1 gene and functional expression of the beta 2 gene product. (PubMed id 7649300)1, 2, 9 Mccormack K.... Stuehmer W. (FEBS Lett. 1995)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Localization of two potassium channel beta subunit genes, KCNA1B and KCNA2B. (PubMed id 8838324)1, 3 Schultz D....McCormack K. (Genomics 1996)
    6. Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation. (PubMed id 23264583)1 Christophersen I.E....Schmitt N. (Eur. Heart J. 2013)
    7. Incretin-stimulated interaction between I^-cell Kv1.5 and KvI^2 channel proteins involves acetylation/deacetylation by CBP/SirT1. (PubMed id 23390957)1 Kim S.J....McIntosh C.H. (Biochem. J. 2013)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8514 HGNC: 6229 AceView: KCNAB2 Ensembl:ENSG00000069424 euGenes: HUgn8514
    ECgene: KCNAB2 H-InvDB: KCNAB2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNAB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNAB2 gene:
    Search GeneIP for patents involving KCNAB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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