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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNAB2 Gene

protein-coding   GIFtS: 60
GCID: GC01P006020

potassium voltage-gated channel, shaker-related subfamily,...

 Explore 8 diseases affiliated with
KCNAB2 via our new
 Human Malady Compendium 
Biological research products
for KCNAB2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Beta Member 21 2     KV-BETA-22
KCNA2B1 2 3 5     K+ Channel Beta-2 Subunit2
AKR6A51 2     Potassium Channel Shaker Chain Beta 22
HKvbeta2.11 2     Voltage-Gated Potassium Channel Subunit Beta-22
HKvbeta2.21 2     KCNK23
K(+) Channel Subunit Beta-22 3     Kv-Beta-21
HKvbeta22     HKvbeta22

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNAB2:
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)

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:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_021937.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KCNAB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Cytoplasm (Potential)
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

Post-translational modifications:

  • Phosphorylated by PRKCZ; may be regulated by incorporation in a complex composed of PRKCZ and SQSTM1 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13303

  • KCNAB2 Protein expression data from MOPED and PaxDb:    About this image 
    KCNAB2 Protein Expression
    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   ENSP00000389151   ENSP00000164247   ENSP00000464860   ENSP00000465785  
     ENSP00000367327   ENSP00000340824   ENSP00000318772   ENSP00000367323   ENSP00000396167  
    Reactome Protein details: Q13303
    Human Recombinant Protein Products for KCNAB2: 
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    Uscn Proteins for KCNAB2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    KCNAB2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KCNAB2 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005249voltage-gated potassium channel activity IEA--
    GO:0005515protein binding ----
    GO:0015459potassium channel regulator activity TAS7649300
         
    KCNAB2 for ontologies           About GeneDecksing


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

    KCNAB2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Kcnab2tm1Kmc for KCNAB2
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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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNAB2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Potassium Channels
    Potassium Channels1.00
    Voltage gated Potassium channels0.43
    2Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics1.00
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway1.00
    4Transmission across Chemical Synapses
    Neuronal System0.67
    5Biological oxidations
    metapathway biotransformation0.41

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    1 BioSystems Pathway for KCNAB2 
        metapathway biotransformation

    3        Reactome Pathways for KCNAB2
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels

    1 PharmGKB Pathway for KCNAB2
        Antiarrhythmic Pathway, Pharmacodynamics


    KCNAB2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNAB2

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

    5/53 Interacting proteins for KCNAB2 (Q133032, 3 ENSP000001642474) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    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
    SLC39A1Q9NY263, ENSP000003097104I2D: score=1 STRING: ENSP00000309710
    SLC39A2Q9NP943, ENSP000002986814I2D: score=1 STRING: ENSP00000298681
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS--
    GO:0051291protein heterooligomerization IEA--

    KCNAB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNAB2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AM 92016 hydrochlorideKV channel blocker[178894-81-0]
    KN-93CaM kinase II inhibitor. Also K+ channel blocker (KV)[139298-40-1]
    4-AminopyridineNon-selective KV channel blocker[504-24-5]

    1 HMDB Compound for KCNAB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    Search CenterWatch for drugs/clinical trials and news about KCNAB2 / KCAB2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000378111 ENST00000378097(uc009vlv.2 uc001alv.2 uc001alw.2)
    ENST00000493807 ENST00000378092 ENST00000478098 ENST00000445501 ENST00000389632
    ENST00000428161 ENST00000435937 ENST00000164247(uc001alx.2) ENST00000459822
    ENST00000472700 ENST00000462676 ENST00000481789 ENST00000378087 ENST00000341524(uc001alu.3)
    ENST00000352527 ENST00000378083(uc001aly.2 uc009vlw.2)

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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 cDNA 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 

    24/28 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 

    24/238 AceView cDNA sequences (see all 238):

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

    GeneLoc Exon Structure

    5/14 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNAB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAATAATGT
    KCNAB2 Expression
    About this image
    See KCNAB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNAB2

    SOURCE GeneReport for Unigene cluster: Hs.440497
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for KCNAB2 gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KCNAB21 potassium voltage-gated channel, shaker-related subfamily, more 85.38(n)
    93.98(a)
      396068  XM_003642509.1  XP_003642557.1 
    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_002663828.2  XP_002663874.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hk3 potassium ion transport voltage-gated
    potassium more
    49(a)   1 9B5   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons KAB16
    potassium channel beta subunit 1
    49(a)
    1 → many
    1(1313564-1315750)
    rice
    (Oryza sativa)
    Liliopsida AK072707.12   -- 75.33(n)    AK072707.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria gpr6
    ydjG6
    L-glyceraldehyde 3-phosphate reductase
    alpha-Keto reductase, NADH-dependent; can use meth...
    29(a)
    26(a)
    possible ortholog
    possible ortholog
    Chromosome(3145919-3146959)
    Chromosome(1853015-1853995)


    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)
    About This Section
    Paralogs for KCNAB2 gene
    KCNAB12  AKR7A32  KCNAB32  AKR7A22  
    2 SIMAP similar genes for KCNAB2 using alignment to 12 protein entries:     KCAB2_HUMAN (see all proteins):
    KCNAB1    KCNAB3

    KCNAB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2130 NCBI SNPs in KCNAB2 are shown (see all 2130    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs66575001,2
    C,F,A--5199888(+) CCCAAG/AAAAAG 1 -- int1 trp32Minor allele frequency- A:0.06WA NA 238
    rs66750501,2
    C--5199986(+) TCACAT/ATCTAT 1 -- int13Minor allele frequency- A:0.07CSA WA NA 239
    rs1141291011,2
    C--5200551(+) AGGCGC/TTGTCA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs121179081,2
    F--5201120(+) GGGAGG/ATTCCA 1 -- int12Minor allele frequency- A:0.06WA NA 238
    rs115768721,2
    C,H--5201330(+) GCGGGG/CAGCCA 1 -- int12Minor allele frequency- C:0.18NA 122
    rs340316161,2
    C--5201498(+) GACGAG/CGGGGG 1 -- int13Minor allele frequency- C:0.23NA WA 240
    rs617607651,2
    F--5201978(+) CCCAAG/ATCGAG 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs8061101,2
    C,F,A,H--5202958(+) NNNNCA/GCAAAG 1 -- us2k14Minor allele frequency- G:0.11MN NA EA 430
    rs8061111,2
    C,F,A,H--5203037(+) CGGCAT/GTAGCA 1 -- us2k121Minor allele frequency- G:0.41NS EA NA WA CSA 2349
    rs111209901,2
    C,F,A,H--5203062(+) TGCCCA/GCCTTC 1 -- us2k17Minor allele frequency- G:0.23NA WA 252

    HapMap Linkage Disequilibrium report for KCNAB2 (6051526 - 6161253 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KCNAB2
         1 CNV: 4199
    Human Gene Mutation Database (HGMD): KCNAB2

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    (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.)
    About This Section

    KCNAB2 for disorders           About GeneDecksing

    OMIM gene information: 601142    OMIM disorders: --

    8 diseases for KCNAB2:    About MalaCards
    episodic ataxia    neuronitis    huntington's disease    ataxia
    tuberculosis    malaria    alcoholism    mycobacterium tuberculosis

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

    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)
    About This Section

    PubMed articles for KCNAB2 gene, integrated from 9 sources (see all 28):
    (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. (1995)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Localization of two potassium channel beta subunit genes, KCNA1B and KCNA2B. (PubMed id 8838324)1, 3 Schultz D....McCormack K. (1996)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. (PubMed id 19953087)1 Persaud A....Rotin D. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8514 HGNC: 6229 AceView: KCNAB2 Ensembl:ENSG00000069424 euGenes: HUgn8514
    ECgene: KCNAB2 H-InvDB: KCNAB2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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