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FLASH GENE
Symbol KCNJ13 contributors: mct - updated : 06-10-2016
HGNC name potassium inwardly-rectifying channel, subfamily J, member 13
HGNC id 6259
Corresponding disease
LCA16 Leber congenital amaurosis, type 16
SVD snowflake vitreoretinal degeneration
Location 2q37.1      Physical location : 233.630.511 - 233.641.275
Synonym name
  • inwardly-rectifying potassium channel Kir7.1
  • Synonym symbol(s) KIR7.1, KIR1.4, MGC33328
    DNA
    TYPE functioning gene
    STRUCTURE 10.76 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D2S331 - KCNJ13 - D2S345 - qter
    Authors Derst (98)
    Physical map
    MGC43122 2q37.1 hypothetical protein MGC43122 GPR66 2q37.1 G protein-coupled receptor 66 LOC391490 2 similar to 60S ribosomal protein L23a MGC35154 2q37.1 hypothetical protein MGC35154 MGC4771 2q37.1 hypothetical protein MGC4771 PTMA 2q36-q36 prothymosin, alpha (gene sequence 28) PDE6D 2q36 phosphodiesterase 6D, cGMP-specific, rod, delta COPS7B 2q36.2 COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) LOC391491 2 similar to guanidinoacetate methyltransferase; GAMT NPPC 2q24-qter natriuretic peptide precursor C MGC42174 2q37.1 hypothetical protein MGC42174 ALPP 2q37.1 alkaline phosphatase, placental (Regan isozyme) ALPPL2 2q37 alkaline phosphatase, placental-like 2 LOC391492 2 similar to xce ALPI 2q37.1 alkaline phosphatase, intestinal ECEL1 2q36-q37 endothelin converting enzyme-like 1 LOC389083 2 similar to enterokinase CHRND 2q37 cholinergic receptor, nicotinic, delta polypeptide CHRNG 2q37.1-q37.2 cholinergic receptor, nicotinic, gamma polypeptide TIGD1 2q36.1 tigger transposable element derived 1 EIF4EL3 2q37.3 eukaryotic translation initiation factor 4E-like 3 FLJ13612 TNRC15 2q37.1 trinucleotide repeat containing 15 KCNJ13 2q37 potassium inwardly-rectifying channel, subfamily J, member 13 LOC389084 2 similar to ASCL830 NGEF 2q37 neuronal guanine nucleotide exchange factor NEU2 2q37 sialidase 2 (cytosolic sialidase) INPP5D 2q36-q37.1 inositol polyphosphate-5-phosphatase, 145kDa APG16L 2q37.1 APG16 autophagy 16-like (S. cerevisiae) SAG 2q37.1 S-antigen; retina and pineal gland (arrestin) DGKD 2q37.1 diacylglycerol kinase, delta 130kDa USP40 2q37.1 ubiquitin specific protease 40 UGT1A12P 2q37 UDP glycosyltransferase 1 family, polypeptide A12 pseudogene UGT1A11P 2q37 UDP glycosyltransferase 1 family, polypeptide A11 pseudogene UGT1A@ 2q37 UDP glycosyltransferase 1 family, polypeptide A cluster LOC391493 2 similar to UDP-glucuronosyltransferase 1-5 precursor, microsomal (UDP-glucuronosyltransferase 1A5) (UDPGT) (UGT1*5) (UGT1-05) (UGT1.5) (UGT-1E) (UGT1E) UGT1A2P 2q37 UDP glycosyltransferase 1 family, polypeptide A2 pseudogene LOC389085 2 similar to hypothetical protein FLJ40243 LOC339766 2q37.2 hypothetical protein LOC339766 DKFZp762E1312 2q37.2 hypothetical protein DKFZp762E1312
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3609 - 360 - 1998 9878260
    having a novel alternative 5 prime splice site in exon 2
    - - - - - in retinal pigment epithelium 2008 18035352
  • encode a truncated protein
  • no functional interaction between this splice variant and full-length Kir7.1 (variant 1)
  • 3 - 3373 - 94 - 1998 9878260
    3 - 3376 - 280 - 1998 9878260
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  predominantly
    Endocrineadrenal gland   highly
    Nervousplexus choroid    
    Urinarykidneynephron   
     kidneytubule   
    urinarykidneynephrondistal convoluted tubule  
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticfollicular dendritic
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two membrane-spanning domains
  • an amphipatic region pore, including the P domain with the K+ channel signature
  • an ATP-binding regulatory domain
  • C-terminal length plays an important role in the plasma-membrane localization of KCNJ13
  • mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY potassium channel subfamily J
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • putatively involved in the functional coupling between the channel and Na+K+ ATPase
  • regulates the transition from quiescence to contractions in the pregnant uterus and may be a target for therapies to control uterine contractility
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • coupling of MC4R to KCNJ13 may explain unusual aspects of the control of energy homeostasis by melanocortin signalling, including the gene dosage effect of MC4R and the sustained effects of AGRP on food intake
  • cell & other
    REGULATION
    Other dual regulation of KCNJ13 channel function by PRKACA and PRKCA
    ASSOCIATED DISORDERS
    corresponding disease(s) SVD , LCA16
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS