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Aliases for KCNJ18 Gene

Aliases for KCNJ18 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 18 2 3
  • Inward Rectifier K(+) Channel Kir2.6 3 4
  • KIR2.6 3 6
  • TTPP2 3 6
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 18 2
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 18 4
  • Thyrotoxic Periodic Paralysis Susceptibility Ion Channel 3
  • Inward Rectifier Potassium Channel 18 3

External Ids for KCNJ18 Gene

Summaries for KCNJ18 Gene

Entrez Gene Summary for KCNJ18 Gene

  • This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013]

GeneCards Summary for KCNJ18 Gene

KCNJ18 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 18) is a Protein Coding gene. Diseases associated with KCNJ18 include thyrotoxic periodic paralysis 2 and thyrotoxic periodic paralysis. GO annotations related to this gene include inward rectifier potassium channel activity.

UniProtKB/Swiss-Prot for KCNJ18 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ18 Gene

Genomics for KCNJ18 Gene

Genomic Location for KCNJ18 Gene

Start:
21,692,523 bp from pter
End:
21,704,612 bp from pter
Size:
12,090 bases
Orientation:
Plus strand

Genomic View for KCNJ18 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ18 Gene

No data available for Regulatory Elements for KCNJ18 Gene

Proteins for KCNJ18 Gene

  • Protein details for KCNJ18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B7U540-KCJ18_HUMAN
    Recommended name:
    Inward rectifier potassium channel 18
    Protein Accession:
    B7U540
    Secondary Accessions:

    Protein attributes for KCNJ18 Gene

    Size:
    433 amino acids
    Molecular mass:
    48738 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KCNJ18 Gene

Proteomics data for KCNJ18 Gene at MOPED

Post-translational modifications for KCNJ18 Gene

  • Probably phosphorylated by PKC; decreases single-channel open probability.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ18 Gene

Domains for KCNJ18 Gene

Gene Families for KCNJ18 Gene

HGNC:
  • KCN :Potassium channels
  • KCNJ :Voltage-gated ion channels / Potassium channels, Inwardly rectifying

UniProtKB/Swiss-Prot:

KCJ18_HUMAN
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily.:
    • B7U540
genes like me logo Genes that share domains with KCNJ18: view

Function for KCNJ18 Gene

Molecular function for KCNJ18 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Up-regulated by triiodothyronine.

Gene Ontology (GO) - Molecular Function for KCNJ18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity IDA 20074522
genes like me logo Genes that share ontologies with KCNJ18: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNJ18 Gene

Localization for KCNJ18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ18 Gene

Cell membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for KCNJ18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 20074522
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ18: view

Pathways for KCNJ18 Gene

SuperPathways for KCNJ18 Gene

No Data Available

Interacting Proteins for KCNJ18 Gene

Gene Ontology (GO) - Biological Process for KCNJ18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ18: view

No data available for Pathways by source for KCNJ18 Gene

Transcripts for KCNJ18 Gene

mRNA/cDNA for KCNJ18 Gene

(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ18 Gene

No ASD Table

Relevant External Links for KCNJ18 Gene

GeneLoc Exon Structure for
KCNJ18
ECgene alternative splicing isoforms for
KCNJ18

Expression for KCNJ18 Gene

mRNA expression in normal human tissues for KCNJ18 Gene

mRNA Expression by UniProt/SwissProt for KCNJ18 Gene

B7U540-KCJ18_HUMAN
Tissue specificity: Specifically expressed in skeletal muscle.
genes like me logo Genes that share expressions with KCNJ18: view

Orthologs for KCNJ18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNJ18 Gene

Organism Taxonomy Gene Similarity Type Details
zebrafish
(Danio rerio)
Actinopterygii si:ch211-23l10.2 36
  • 72.2 (n)
  • 75.48 (a)
Species with no ortholog for KCNJ18:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNJ18 Gene

ENSEMBL:
Gene Tree for KCNJ18 (if available)
TreeFam:
Gene Tree for KCNJ18 (if available)

Paralogs for KCNJ18 Gene

Selected SIMAP similar genes for KCNJ18 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNJ18: view

No data available for Paralogs for KCNJ18 Gene

Variants for KCNJ18 Gene

Sequence variations from dbSNP and Humsavar for KCNJ18 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs527236151 Pathogenic 21,702,913(+) GGTGC(C/T)GCAAC reference, missense
rs527236152 Pathogenic 21,703,205(+) CGAGA(C/T)GCAGA reference, missense
rs527236153 Pathogenic 21,703,215(+) ACCAC(-/C)ATCGG frameshift-variant, reference
rs527236154 Pathogenic 21,703,288(+) CCATC(A/G)TGGGC missense, reference
rs527236155 Pathogenic 21,703,384(+) ACAAC(C/G)CCGTG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for KCNJ18 Gene

Variant ID Type Subtype PubMed ID
nsv907888 CNV Gain 21882294
nsv907889 CNV Gain 21882294
dgv937e1 CNV Complex 17122850
nsv907891 CNV Loss 21882294
esv2660756 CNV Deletion 23128226
dgv363n27 CNV Gain 19166990
esv34477 CNV Gain 17911159
esv33687 CNV Gain 17666407
nsv511597 CNV Loss 21212237

Relevant External Links for KCNJ18 Gene

HapMap Linkage Disequilibrium report
KCNJ18
Human Gene Mutation Database (HGMD)
KCNJ18

Disorders for KCNJ18 Gene

(1) OMIM Diseases for KCNJ18 Gene (613236)

UniProtKB/Swiss-Prot

KCJ18_HUMAN
  • Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]: A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. {ECO:0000269 PubMed:20074522}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KCNJ18: view

Publications for KCNJ18 Gene

  1. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. (PMID: 20074522) Ryan D.P. … Ptacek L.J. (Cell 2010) 2 3 4
  2. Hypokalemic Periodic Paralysis (PMID: 20301512) Pagon R.A. … Stephens K. ( 1993) 3
  3. Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels. (PMID: 21209095) Dassau L. … Vandenberg C.A. (J. Biol. Chem. 2011) 3
  4. Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis. (PMID: 21665951) Cheng C.J. … Huang C.L. (J. Biol. Chem. 2011) 3
  5. Global identification of modular cullin-RING ligase substrates. (PMID: 21963094) Emanuele M.J. … Elledge S.J. (Cell 2011) 3

Products for KCNJ18 Gene

Sources for KCNJ18 Gene

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