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KCNJ13 Gene

protein-coding   GIFtS: 60

GC02M233339
potassium inwardly-rectifying channel, subfamily J, member 13
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
KIR1.4 2
KIR7.1 2
Kir1.4 1
Kir7.1 1
MGC33328 2
SVD 2, 5
Descriptions
Inward rectifier K(+) channel Kir7.1 3
Potassium channel, inwardly rectifying subfamily J member
13 3
inward rectifier potassium channel 13 2
inwardly-rectifying potassium channel Kir7.1 2
potassium inwardly-rectifying channel J13 2
potassium inwardly-rectifying channel, subfamily J, member
13 2
External Ids
HGNC: 62591
Entrez Gene: 37692
UniProtKB: O609283
Ensembl: ENSG000001154747
Search outside databases for aliases for KCNJ13 gene

Previous GC identifers: GC02M231687 GC02M232360 GC02M233595 GC02M233833 GC02M233829 GC02M233458

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928
Function: Inward rectifier potassium channels are characterized by a greater tendency to allow
potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by
the concentration of extracellular potassium; as external potassium is raised, the voltage range
of the channel opening shifts to more positive voltages. The inward rectification is mainly due to
the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel
conductance, low sensitivity to block by external barium and cesium, and no dependence of its
inward rectification properties on the internal blocking particle magnesium

Gene Wiki entry for KCNJ13

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KCNJ13 gene  

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37

KCNJ13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M233339:     (about GC identifiers)

Start:
233,339,104 bp from pter
End:
233,349,519 bp from pter
Size:
10,416 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928 (See protein sequence)
Recommended Name: Inward rectifier potassium channel 13  
Size: 360 amino acids; 40530 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O76023 Q8N3Y4

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_002233.2  

    ENSEMBL proteins: 
    ENSP00000233826 ENSP00000386251 ENSP00000386408 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KCNJ13)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008076 voltage-gated potassium channel complex NAS--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for KCNJ13: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (KCNJ13), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for KCNJ13

    Assays for KCNJ13: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5 InterPro domains/families:
     IPR013521 K_chnl_inward-rec_Kir_Cr2
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR008062 K_chnl_inward-rec_Kir7
     IPR016449 K_chnl_inward-rec_Kir
     IPR001838 K_chnl_inward-rec_Kir-like


       GeneDecks  KCNJ13 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O60928

    ProtoNet protein and cluster: O60928

    2 Blocks protein families:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB008062 Kir7 inward rectifier K+ channel signature


    UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928
    Similarity: Belongs to the inward rectifier-type potassium channel family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNJ13)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNJ13)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002242

                  Applied Biosystems Silencer® siRNAs for KCNJ13

                  Sigma-Aldrich siRNA and siRNA Panels for KCNJ13  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNJ13  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for KCNJ13
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002242
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002242
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_002242 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002242

    UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928
    Function: Inward rectifier potassium channels are characterized by a greater tendency to allow
    potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by
    the concentration of extracellular potassium; as external potassium is raised, the voltage range
    of the channel opening shifts to more positive voltages. The inward rectification is mainly due to
    the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel
    conductance, low sensitivity to block by external barium and cesium, and no dependence of its
    inward rectification properties on the internal blocking particle magnesium

    Genatlas biochemistry entry for KCNJ13:
    potassium non voltage-gated channel,wealkly inwardly rectifying,subfamily J,member 13,novel subunit
    KIR7.1,predominantly expressed in thyroid follicular cells,choroid plexus,small intestine and
    moderately in the kidney,stomach,spinal cord and brain,located in the basolateral membrane of
    follicular cells,in the apical membrane of epithelia,putatively involved in the functional
    coupling between the channel and Na+K+ ATPase

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242 inward rectifier potassium channel activity NAS9738472
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0030955 potassium ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for KCNJ13
      inward current

       GeneDecks  KCNJ13 for the pathways selected above  
    About GeneDecksing


    5/41 Interacting proteins for KCNJ13 (ENSP000002338263) via UniProtKB, MINT, and/or STRING (see all 41 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNS1ENSP000003076943STRING (score=.965)
    KCNA1ENSP000002288583STRING (score=.922)
    KCNE1ENSP000003372553STRING (score=.922)
    KCNQ1ENSP000003701533STRING (score=.921)
    KCNJ8ENSP000002406623STRING (score=.92)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0006813 potassium ion transport NAS9738472
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for KCNJ13
    Browse Small Molecules at Sigma-Aldrich

    Compounds for KCNJ13 available from Tocris Bioscience
    CompoundAction CAS number
    ZM 226600KATP channel opener[147695-92-9]
    MinoxidilK+ channel (KATP) opener[38304-91-5]
    PNU 37883 hydrochlorideVascular KATP channel blocker[57568-80-6]
    DiazoxideBlocks desensitization of AMPA receptors[364-98-7]
    Y-27152Prodrug of KATP channel opener Y-26763; orally active in vivo[127408-30-4]
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNJ13)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNJ13)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002242

                  Sigma-Aldrich siRNA and siRNA Panels for KCNJ13  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNJ13  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_002242  

    REFSEQ mRNAs for KCNJ13 gene: 

    NM_002242.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002242  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002242
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002242
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_002242 

    Additional cDNA sequence: 

    AF061118.1 AJ006128.1 AJ007557.1 AK314019.1 AY758240.1 AY758241.1 BC037290.2 

    7 DOTS entries:

    DT.97817451  DT.441401  DT.95362166  DT.214653  DT.214655  DT.75113695  DT.120968977 

    24/42 AceView cDNA sequences (see all 42 ):

    BX098104 AF061118 CA397390 BX097331 CA394023 AI453039 AJ006128 BM713424 
    BX105910 BC037290 BG702897 AI208720 AU100510 BM678343 BF108771 AW470730 
    CD102781 CD104201 BF725750 BI552483 CD102493 AI192698 NM_002242 AJ007557 

    highest scoring ESTs for KCNJ13:

    AJ007557 AF061118 BC037290 BF725750 BG702897 BI552483 BX105910 CD511919 AA845464 AI077821 

    Unigene Cluster for KCNJ13:

    Potassium inwardly-rectifying channel, subfamily J, member 13
    Hs.467338  [show with all ESTs]
    Unigene Representative Sequence: NM_002242


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ13

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d
    SP1:              -                 -                           
    SP2:              -                                             
    SP3:              -     -                                       
    SP4:                                                            

    About this scheme

    ECgene alternative splicing isoforms for KCNJ13

    3 Ensembl transcripts including schematic representations:
    ENST00000233826  ENST00000410029  ENST00000409779  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KCNJ13 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KCNJ13

    1 / 2 / 3

    5 probe-sets matching KCNJ13 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    41477_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AJ007557 1.00 1.00 1.00 1

    210179_at2, 3 U133-A 1 1.00 1.00 -- -- AJ007557 1.00 1.00 1.00 1

    211427_s_at2, 3 U133-A 1 1.00 1.00 -- -- AB013889 0.40 1.00 0.76 1

    210179_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    211427_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.467338

    Expression variation in blood from EXPOLDB for KCNJ13

    UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928
    Tissue specificity: Predominantly expressed in small intestine. Expression is also detected in
    stomach, kidney, and all central nervous system regions tested with the exception of spinal cord

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for KCNJ13 gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KCNJ131   -- potassium inwardly-rectifying channel, subfamily J, more 94.63(n)
    96.67(a)
    477411  XM_534607.2  XP_534607.1 
    cow
    (Bos taurus)
    KCNJ131   -- potassium inwardly-rectifying channel, subfamily J, more 92.04(n)
    94.44(a)
    512288  XM_881518.2  XP_886611.1 
    rat
    (Rattus norvegicus)
    Kcnj131   -- potassium inwardly-rectifying channel, subfamily J, more 90.56(n)
    93.89(a)
    94341  NM_053608.2  NP_446060.1 
    mouse
    (Mus musculus)
    Kcnj131, 5 15
    potassium inwardly-rectifying channel, subfamily J, more1, 5 90(n)1
    93.06(a)1
    1000405911  XM_001475110.11  XP_001475160.11 
    zebrafish
    (Danio rerio)
    kcnj131   -- potassium inwardly-rectifying channel, subfamily J, more 57.16(n)
    53.15(a)
    555691  NM_001045549.1  NP_001039014.1 
    About this table        Species with no ortholog for KCNJ13

    ENSEMBL Gene Tree for KCNJ13
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KCNJ13 gene
    KCNJ102  KCNJ152  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

      --
    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 603208   disorders: 193230  

    UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928

  • Defects in KCNJ13 are the cause of snowflake vitreoretinal degeneration (SVD)
    [MIM:193230]. SVD is a developmental and progressive hereditary eye disorder that affects multiple
    tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous
    humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal
    detachment
  • Human Gene Mutation Database: KCNJ13
    Human Genome Epidemiology Navigator: KCNJ13 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/16 PubMed articles for KCNJ13 gene (see all 16 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 3769 HGNC: 6259 AceView: KCNJ13 Ensembl:ENSG00000115474 euGenes: HUgn3769
    ECgene: KCNJ13 H-InvDB: KCNJ13
    (According to HUGE)
    About This Section

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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for KCNJ13:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for KCNJ13 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for KCNJ13 Browse small molecules at Sigma-Aldrich
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     Drugs for KCNJ13
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