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

KCNAB1 Gene

protein-coding   GIFtS: 57
GCID: GC03P155755

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

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Beta Member
11 2
     Potassium Channel Beta 3 Chain2
KCNA1B2 3 5     Potassium Channel Beta3 Subunit2
K(+) Channel Subunit Beta-12 3     Potassium Channel Shaker Chain Beta 1a2
AKR6A32     Potassium Voltage-Gated Channel Beta Subunit2
KV-BETA-12     Voltage-Gated Potassium Channel Beta-1 Subunit2
Kvb1.32     Voltage-Gated Potassium Channel Subunit Beta-12
hKvBeta32     Kv-beta-13
hKvb32     

External Ids:    HGNC: 62281   Entrez Gene: 78812   Ensembl: ENSG000001692827   OMIM: 6011415   UniProtKB: Q147223   

Export aliases for KCNAB1 gene to outside databases

Previous GC identifers: GC03P152874 GC03P156956 GC03P157119 GC03P157159 GC03P157321 GC03P153234


(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 KCNAB1 Gene:
Potassium 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 includes three distinct isoforms which are encoded
by three alternatively spliced transcript variants of this gene. These three isoforms are beta subunits, which
form heteromultimeric complex with alpha subunits and modulate the activity of the pore-forming alpha subunits.
(provided by RefSeq, Jul 2008)

GeneCards Summary for KCNAB1 Gene: 
KCNAB1 (potassium voltage-gated channel, shaker-related subfamily, beta member 1) is a protein-coding gene. Diseases associated with KCNAB1 include episodic ataxia, and epilepsy syndrome, and among its related super-pathways are Potassium Channels and Transmission across Chemical Synapses. 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: KCAB1_HUMAN, Q14722
Function: Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. All
three isoforms alter the functional properties of Kv1.4 and Kv1.5. Isoform KvB1.2 has no effect on Kv1.1, Kv1.2
or Kv2.1

summary for KCNAB1 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 KCNAB1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNAB1 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   Tal-1beta   HNF-4alpha1   E2F   E2F-1   TGIF   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCNAB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNAB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNAB1


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

Entrez Gene cytogenetic band: 3q26.1   Ensembl cytogenetic band:  3q25.31   HGNC cytogenetic band: 3q26.1

KCNAB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNAB1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P155755:  view genomic region     (about GC identifiers)

Start:
155,755,490 bp from pter      End:
156,256,927 bp from pter
Size:
501,438 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCAB1_HUMAN, Q14722 (See protein sequence)
Recommended Name: Voltage-gated potassium channel subunit beta-1  
Size: 419 amino acids; 46563 Da
Subunit: Forms heteromultimeric complex with alpha subunits. Interacts with SQSTM1 (By similarity). Part of a
complex containing KCNA1, KCNA4 and LGI1 (By similarity)
Subcellular location: Cytoplasm (Potential)
Secondary accessions: A8K9H8 A8KAD4 B3KPZ4 Q13031 Q13302 Q16547 Q6PI60 Q99869
Alternative splicing: 3 isoforms:  Q14722-1   Q14722-2   Q14722-3   (Ref.9 (AAC50113) sequence is in conflict in position: 16:L->S)

Explore the universe of human proteins at neXtProt for KCNAB1: NX_Q14722

Explore proteomics data for KCNAB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14722

  • KCNAB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNAB1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_003462.2  NP_751891.1  NP_751892.1  

    ENSEMBL proteins: 
     ENSP00000420755   ENSP00000419952   ENSP00000374287   ENSP00000418956   ENSP00000420221  
     ENSP00000305858   ENSP00000374285   ENSP00000418048  
    Reactome Protein details: Q14722
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    Gene Ontology (GO): 3 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--

    KCNAB1 for ontologies           About GeneDecksing



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

    5 InterPro protein domains:
     IPR001395 Aldo/ket_red
     IPR023210 NADP_OxRdtase_dom
     IPR005399 K_chnl_volt-dep_bsu_KCNAB-rel
     IPR005400 K_chnl_volt-dep_bsu_KCNAB1
     IPR005983 K_chnl_volt-dep_bsu_KCNAB

    Graphical View of Domain Structure for InterPro Entry Q14722

    ProtoNet protein and cluster: Q14722

    3 Blocks protein domains:
    IPB001395 Aldo/keto reductase
    IPB005399 KCNAB voltage-gated K+ channel beta subunit family signature
    IPB005400 KCNAB voltage-gated K+ channel beta-1 subunit signature


    UniProtKB/Swiss-Prot: KCAB1_HUMAN, Q14722
    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


    KCNAB1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCAB1_HUMAN, Q14722
    Function: Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. All
    three isoforms alter the functional properties of Kv1.4 and Kv1.5. Isoform KvB1.2 has no effect on Kv1.1, Kv1.2
    or Kv2.1

         Genatlas biochemistry entry for KCNAB1:
    potassium voltage-gated channel,Drosophila shaker-related subfamily,expressed in heart,auxiliary beta 1cytoplasmic
    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 TAS7499366
         
    KCNAB1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcnab1):
     behavior/neurological  cardiovascular system  mortality/aging  nervous system 

    KCNAB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KCNAB1: Kcnab1tm1Sva Kcnab1tm1Mes Kcnab1tm1Kwak

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    SwitchGear 3'UTR luciferase reporter plasmidKCNAB1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNAB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.67
    3Biological oxidations
    metapathway biotransformation0.41
    4Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNAB1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 BioSystems Pathway for KCNAB1
        metapathway biotransformation


    3        Reactome Pathways for KCNAB1
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels



    KCNAB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNAB1

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

    5/27 Interacting proteins for KCNAB1 (Q147223 ENSP000004199524) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNA2P163893, ENSP000003145204I2D: score=4 STRING: ENSP00000314520
    DLG1Q129593, ENSP000003457314I2D: score=1 STRING: ENSP00000345731
    SLC39A2Q9NP943, ENSP000002986814I2D: score=1 STRING: ENSP00000298681
    SLC39A1Q9NY263, ENSP000003097104I2D: score=1 STRING: ENSP00000309710
    ISCUQ9H1K13I2D: score=6 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport TAS7499366
    GO:0007268synaptic transmission TAS--
    GO:0055085transmembrane transport ----

    KCNAB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNAB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for KCNAB1 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 Novoseek inferred chemical compound relationship for KCNAB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 51.1 3 19153714 (1), 8938711 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNAB1 / KCAB1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCNAB1 gene (3 alternative transcripts): 
    NM_003471.3  NM_172159.3  NM_172160.2  

    Unigene Cluster for KCNAB1:

    Potassium voltage-gated channel, shaker-related subfamily, beta member 1
    Hs.654519  [show with all ESTs]
    Unigene Representative Sequence: NM_172159
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478609 ENST00000477912 ENST00000472028 ENST00000490337(uc003far.2 uc011bon.1)
    ENST00000389636 ENST00000471742(uc003fas.2) ENST00000475456 ENST00000302490(uc003fat.2 uc010hvt.1 uc011boo.1)
    ENST00000389634 ENST00000489036 ENST00000476362 ENST00000461717 ENST00000497291
    ENST00000496923
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    Additional mRNA sequence: 

    AK057059.1 AK127240.1 AK292693.1 AK292999.1 AK296728.1 AK303287.1 AY780786.1 BC043166.2 
    L39833.1 L47665.1 U16953.1 U17968.1 U33428.1 

    9 DOTS entries:

    DT.414830  DT.100678459  DT.100743432  DT.95160478  DT.70105431  DT.97819777  DT.120847313  DT.91867056 
    DT.95251606 

    17 AceView cDNA sequences:

    AI344124 AA101811 AI421570 BU071950 CA433063 BG927156 AA307631 AI361306 
    AW026476 AI225105 AV690748 AI991486 CD695905 BX106158 AA101809 BF696512 
    AV700268 

    GeneLoc Exon Structure


    (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

    KCNAB1 expression in normal human tissues (normalized intensities)      KCNAB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNAB1 Expression
    About this image


    KCNAB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             caudate nucleus   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             PureStem endothelial progenitor 30-SM2-1
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod

    See KCNAB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNAB1

    SOURCE GeneReport for Unigene cluster: Hs.654519

    UniProtKB/Swiss-Prot: KCAB1_HUMAN, Q14722
    Tissue specificity: In brain, expression is most prominent in caudate nucleus, hippocampus and thalamus.
    Significant expression also detected in amygdala and subthalamic nucleus. Also expressed in both healthy and
    cardiomyopathic heart. Up to four times more abundant in left ventricle than left atrium

        SABiosciences Expression via Pathway-Focused PCR Arrays including KCNAB1: 
              Neuronal Ion Channels in human mouse rat
              Huntington's Disease in human mouse rat

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    In Situ
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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 common ancestor of eukaryotes.

    Orthologs for KCNAB1 gene from 9/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnab11 , 5 potassium voltage-gated channel, shaker-related subfamily, more1, 5 92.52(n)1
    99.75(a)1
      3 (30.15 cM)5
    164971  NM_010597.31  NP_034727.31 
     651093845 
    chicken
    (Gallus gallus)
    Aves KCNAB11 potassium voltage-gated channel, shaker-related subfamily, more 82.71(n)
    95.26(a)
      395730  NM_204906.1  NP_990237.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNAB16
    Uncharacterized protein
    80(a)
    1 ↔ 1
    3(15508198-15661079)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.45072 Transcribed sequence with strong similarity to protein more 78.83(n)    BX709831.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnab11 potassium voltage-gated channel, shaker-related subfamily, more 78.06(n)
    88.94(a)
      541540  NM_001014354.1  NP_001014376.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hk1 , 3 potassium ion transport voltage-gated
    potassium more3
    Hyperkinetic1
    46(a)3
    53.96(n)1
    50.3(a)1
      1 9B53
    319551  NM_167222.21  NP_727405.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPL088W6
    Putative aryl alcohol dehydrogenase; transcription...
    26(a)
    1 → many
    XVI(381965-382993)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons KAB11 potassium channel beta subunit 1 52.29(n)
    48.62(a)
      839450  NM_100349.3  NP_171963.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g08175001 hypothetical protein 53.52(n)
    50.76(a)
      4331148  NM_001055056.1  NP_001048521.1 


    ENSEMBL Gene Tree for KCNAB1 (if available)
    TreeFam Gene Tree for KCNAB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNAB1 gene
    AKR7A32  KCNAB32  AKR7L2  AKR7A22  KCNAB22  
    2 SIMAP similar genes for KCNAB1 using alignment to 8 protein entries:     KCAB1_HUMAN (see all proteins):
    KCNAB2    KCNAB3

    KCNAB1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KCNAB1
    PGOHUM00000244583


    (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) 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

    10/7610 SNPs in KCNAB1 are shown (see all 7610)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1512897131,2
    Cuntested1156009784(+) CCGCCC/TCCAAT 4 P S int1 mis10--------
    rs667874121,2
    C--153542006(-) ATAGG-/GT/T  
            
    GTGTG
    3 -- int12NA 4
    rs675944261,2
    C--153622859(-) TGGAC-/CAGCAGCA 3 -- int11Minor allele frequency- CAG:0.00NA 2
    rs774219271,2
    C--153651886(+) TGTTT-/GT/TG 
            
    TTTTT
    6 -- ut310--------
    rs67753881,2
    C,F,A,H--155836353(+) ttatcT/Gctatt 1 -- us2k1 tfbs310Minor allele frequency- G:0.12NS EA NA WA 642
    rs1858736321,2
    --155836392(+) GGAGTG/TAAGAA 1 -- us2k10--------
    rs67869041,2
    C,F,A,H--155836414(+) atcacA/Cgcact 1 -- us2k120Minor allele frequency- C:0.13NS EA NA WA 2160
    rs1164241221,2
    F--155836449(+) AACCCA/CAGCAG 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs730266701,2
    C,F--155836483(+) AAACAC/GAACAG 1 -- us2k13Minor allele frequency- G:0.10WA CSA 122
    rs1454701391,2
    --155836521(+) CCTCTC/GTCTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNAB1 (155755490 - 156005490 bp, first 250kb of KCNAB1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for KCNAB1 (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2289616CNV Deletion18987734
    esv2726090CNV Deletion23290073
    esv2662315CNV Deletion23128226
    esv2663886CNV Deletion23128226
    esv2620873CNV Deletion19546169
    esv2667743CNV Deletion23128226
    esv2125528CNV Deletion18987734
    esv1546912CNV Insertion17803354
    nsv4078CNV Insertion18451855
    esv268340CNV Insertion20981092

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601141    OMIM disorders: --

    8 diseases for KCNAB1:    About MalaCards
    episodic ataxia    epilepsy syndrome    ataxia    huntington's disease
    alcoholism    tuberculosis    neuronitis    retinitis

    1 disease from the University of Copenhagen DISEASES database for KCNAB1:
    Episodic ataxia

    KCNAB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNAB1
    Human Genome Epidemiology (HuGE) Navigator: KCNAB1 (4 documents)

    Export disorders for KCNAB1 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 KCNAB1 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with KCNAB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel K+ channel beta-subunit (hKv beta 1.3) is produced via alternative mRNA splicing. (PubMed id 7499366)1, 2, 3 England S.K.... Tamkun M.M. (1995)
    2. Structural and functional characterization of human potassium channel subunit beta 1 (KCNA1B). (PubMed id 8938711)1, 2, 9 Leicher T.... Pongs O. (1996)
    3. 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)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    6. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)1, 4 Lunetta K.L....Murabito J.M. (2007)
    7. Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. (PubMed id 17913586)1, 4 Cavalleri G.L....Goldstein D.B. (2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. Localization of two potassium channel beta subunit genes, KCNA1B and KCNA2B. (PubMed id 8838324)1, 3 Schultz D....McCormack K. (1996)

    (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: 7881 HGNC: 6228 AceView: KCNAB1.1 Ensembl:ENSG00000169282 euGenes: HUgn7881
    ECgene: KCNAB1 H-InvDB: KCNAB1

    (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 KCNAB1 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 KCNAB1 gene:
    Search GeneIP for patents involving KCNAB1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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