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

KCNJ13 Gene

protein-coding   GIFtS: 59
GCID: GC02M233630

Potassium Inwardly-Rectifying Channel, Subfamily J, Member...

  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 Inwardly-Rectifying Channel, Subfamily J, Member 131 2     KIR7.12
Inward Rectifier K(+) Channel Kir7.12 3     LCA162
SVD2 5     Inward Rectifier Potassium Channel 132
KIR1.42     Potassium Channel, Inwardly Rectifying Subfamily J Member 133

External Ids:    HGNC: 62591   Entrez Gene: 37692   Ensembl: ENSG000001154747   OMIM: 6032085   UniProtKB: O609283   

Export aliases for KCNJ13 gene to outside databases

Previous GC identifers: GC02M231687 GC02M232360 GC02M233595 GC02M233833 GC02M233829 GC02M233458 GC02M233339 GC02M225479


(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 KCNJ13 Gene:
This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family
form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily
of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in
this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple
transcript variants.(provided by RefSeq, Feb 2010)

GeneCards Summary for KCNJ13 Gene: 
KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13) is a protein-coding gene. Diseases associated with KCNJ13 include vitreoretinal degeneration, and snowflake vitreoretinal degeneration. GO annotations related to this gene include inward rectifier potassium channel activity.

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

summary for KCNJ13 Gene:
The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong
inward-rectifier channels (KIR2.x), the G-protein-activated inward-rectifier channels (KIR3.x) and the
ATP-sensitive channels (KIR6.x, which combine with sulphonylurea receptors (SUR)). Structurally, the
pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two
membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each
subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within
subfamilies, e.g. KIR3.2 with KIR3.3.

Gene Wiki entry for KCNJ13 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_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNJ13 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   CUTL1   POU2F2   POU2F1   POU2F1a   PPAR-gamma2   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ13 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNJ13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ13


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

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)
KCNJ13 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M233630:  view genomic region     (about GC identifiers)

Start:
233,630,512 bp from pter      End:
233,641,278 bp from pter
Size:
10,767 bases      Orientation:
minus 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: 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: A0PGH1 O76023 Q53SA1 Q8N3Y4
Alternative splicing: 2 isoforms:  O60928-1   O60928-2   

Explore the universe of human proteins at neXtProt for KCNJ13: NX_O60928

Explore proteomics data for KCNJ13 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA
    increases them
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60928

  • KCNJ13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNJ13 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001165887.1  NP_001165888.1  NP_002233.2  

    ENSEMBL proteins: 
     ENSP00000233826   ENSP00000386408   ENSP00000386251   ENSP00000416896   ENSP00000407284  

    Human Recombinant Protein Products for KCNJ13: 
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    Cloud-Clone Corp. Proteins for KCNJ13 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008076voltage-gated potassium channel complex NAS--
    GO:0016021integral to membrane ----

    KCNJ13 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
    KCNJ: Voltage-gated ion channels / Potassium channels, Inwardly rectifying

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kir7.1 
    Inwardly rectifying potassium channels

    4 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR008062 K_chnl_inward-rec_Kir7
     IPR016449 K_chnl_inward-rec_Kir

    Graphical View of Domain Structure for InterPro Entry O60928

    ProtoNet protein and cluster: O60928

    2 Blocks protein domains:
    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 (TC 1.A.2.1) family. KCNJ13 subfamily


    KCNJ13 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: 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity NAS9738472
         
    KCNJ13 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNJ13:
     Increased G1 DNA content  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNJ13 
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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 KCNJ13 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein digestion and absorption
    Protein digestion and absorption
    2Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway
    3Potassium transporters: inward current
    Potassium transporters: inward current

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNJ13
        Potassium transporters- inward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ13
        Dopamine-DARPP32 Feedback onto cAMP Pathway


    1         Kegg Pathway  (Kegg details for KCNJ13):
        Protein digestion and absorption


    KCNJ13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNJ13

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport NAS9738472

    KCNJ13 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNJ13 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LevcromakalimKir6 (KATP) channel opener. Active enantiomer of cromakalim (Cat. No. 1377)[94535-50-9]
    DiazoxideBlocks desensitization of AMPA receptors[364-98-7]
    GlibenclamideKir6 (KATP) channel blocker[10238-21-8]
    P1075Potent Kir6 (KATP) channel opener[60559-98-0]
    Tertiapin-QSelective blocker of inward-rectifier K+ channels[252198-49-5]

    1 HMDB Compound for KCNJ13    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    3 IUPHAR Ligands for KCNJ13 (Kir7.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    Ba2+
    Pore BlockerAntagonist3.179738472 9786970 11179389 9620703
    Cs+
    Pore BlockerAntagonist1.579738472 9786970 9620703
    4-aminopyridine
    Pore BlockerAntagonist1.579620703

    Search CenterWatch for drugs/clinical trials and news about KCNJ13 / IRK13

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 KCNJ13 gene (3 alternative transcripts): 
    NM_001172416.1  NM_001172417.1  NM_002242.4  

    Unigene Cluster for KCNJ13:

    Potassium inwardly-rectifying channel, subfamily J, member 13
    Hs.467338  [show with all ESTs]
    Unigene Representative Sequence: NM_002242
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000233826(uc002vto.3 uc002vtn.3 uc002vtp.3 uc021vyk.1)
    ENST00000409779 ENST00000410029 ENST00000444142 ENST00000438786
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    SwitchGear 3'UTR luciferase reporter plasmidKCNJ13 3' UTR sequence
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    Additional mRNA 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):

    AF061118 BX105910 BX098104 CA394023 BX097331 AJ006128 BM713424 CA397390 
    AI453039 BM678343 BF108771 BG700671 AI809917 AJ007557 NM_002242 AW470730 
    AI192698 BG702897 AU100510 CD102493 BI552483 AI208720 AI026793 CD104201 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for KCNJ13

    (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

    KCNJ13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNJ13 Expression
    About this image


    See KCNJ13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNJ13

    SOURCE GeneReport for Unigene cluster: Hs.467338

    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

        SABiosciences Expression via Pathway-Focused PCR Array including KCNJ13: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ13

    (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 animals.

    Orthologs for KCNJ13 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnj131 , 5 potassium inwardly-rectifying channel, subfamily J, more1, 5 90(n)1
    93.06(a)1
      1 (44.30 cM)5
    1000405911  NM_001110227.11  NP_001103697.11 
     873863635 
    chicken
    (Gallus gallus)
    Aves KCNJ136
    potassium inwardly-rectifying channel, subfamily J...
    79(a)
    1 ↔ 1
    9(524847-526671)
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ136
    Uncharacterized protein
    82(a)
    1 ↔ 1
    3(35627826-35629569)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnj131 potassium inwardly-rectifying channel, subfamily J, more 57.16(n)
    53.15(a)
      555691  NM_001045549.1  NP_001039014.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Irk36
    Inwardly rectifying potassium channel 3
    16(a)
    1 ↔ 1
    2L(18711071-18713763)
    worm
    (Caenorhabditis elegans)
    Secernentea irk-36
    Protein IRK-3
    24(a)
    1 ↔ 1
    X(14353309-14359065)


    ENSEMBL Gene Tree for KCNJ13 (if available)
    TreeFam Gene Tree for KCNJ13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNJ13 gene
    16 SIMAP similar genes for KCNJ13 using alignment to 3 protein entries:     IRK13_HUMAN (see all proteins):
    KCNJ15    KCNJ10    KCNJ1    KCNJ12    KCNJ18    KCNJ6
    kcnj12x    KCNJ11    KCNJ5    KCNJ3    KCNJ14    KCNJ2
    KCNJ8    KCNJ16    KCNJ9    KCNJ4

    KCNJ13 for paralogs           About GeneDecksing



    (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

    9 SNPs in KCNJ13 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0435094
    Snowflake vitreoretinal degeneration (SVD)4--see VAR_0435092 R W mis40--------
    VAR_0664904
    Leber congenital amaurosis 16 (LCA16)4--see VAR_0664902 L P mis40--------
    VAR_0664884
    Leber congenital amaurosis 16 (LCA16)4--see VAR_0664882 Q R mis40--------
    VAR_0664914
    ----see VAR_0664912 E A mis40--------
    VAR_0435114
    ----see VAR_0435112 G C mis40--------
    VAR_0161934
    ----see VAR_0161932 T I mis40--------
    VAR_0664894
    ----see VAR_0664892 R Q mis40--------
    VAR_0435104
    ----see VAR_0435102 P Q mis40--------
    rs1219185421,2
    --pathogenic1233006109(-) TTGCCC/TGGCCA 6 R W P L mis10--------

    HapMap Linkage Disequilibrium report for KCNJ13 (233630512 - 233641278 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KCNJ13:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv460134CNV Loss19166990
    nsv834570CNV Gain17160897


    Human Gene Mutation Database (HGMD): KCNJ13
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNJ13
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNJ13

    (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: 603208   
    OMIM disorders: 193230  
    UniProtKB/Swiss-Prot: IRK13_HUMAN, O60928
  • Snowflake vitreoretinal degeneration (SVD) [MIM:193230]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Leber congenital amaurosis 16 (LCA16) [MIM:614186]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 19 diseases for KCNJ13:    About MalaCards
    vitreoretinal degeneration    snowflake vitreoretinal degeneration    kcnj13-related leber congenital amaurosis    benign paroxysmal positional nystagmus
    cerebrovascular accident    vestibular neuronitis    endolymphatic sac tumor    hyperopia
    vascular dementia    leber congenital amaurosis    retinal detachment    mouth disease
    keratoconus    choroiditis    dementia    cataract
    retinitis    thyroiditis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for KCNJ13:
    Atrial heart septal defect     Vitreous syneresis

    KCNJ13 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNJ13
    Human Genome Epidemiology (HuGE) Navigator: KCNJ13 (1 document)

    Export disorders for KCNJ13 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 KCNJ13 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with KCNJ13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13). (PubMed id 9878260)1, 2, 3, 9 Derst C.... Grzeschik K.-H. (1998)
    2. A novel inward rectifier K+ channel with unique pore properties. (PubMed id 9620703)1, 2, 3 Krapivinsky G....Clapham D.E. (1998)
    3. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. (PubMed id 18179896)1, 2, 9 Hejtmancik J.F....Edwards A.O. (2008)
    4. Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium. (PubMed id 18035352)1, 2, 9 Yang D.... Hughes B.A. (2008)
    5. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. (PubMed id 21763485)1, 2 Sergouniotis P.I.... Webster A.R. (2011)
    6. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    7. Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C. (PubMed id 18976636)1, 2 Zhang W....Schwenger V. (2008)
    8. International Union of Pharmacology. LIV. Nomenclatur e and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)1, 3 Kubo Y....Vandenberg C.A. (2005)
    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. Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine. (PubMed id 9738472)1, 2 Partiseti M.... Graham D. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3769 HGNC: 6259 AceView: KCNJ13 Ensembl:ENSG00000115474 euGenes: HUgn3769
    ECgene: KCNJ13 Kegg: 3769 H-InvDB: KCNJ13

    (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 KCNJ13 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 KCNJ13 gene:
    Search GeneIP for patents involving KCNJ13

    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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