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] See more...

Aliases for KCNJ18 Gene

Aliases for KCNJ18 Gene

  • Potassium Inwardly Rectifying Channel Subfamily J Member 18 2 3 5
  • Inward Rectifier Potassium Channel 18 3 4
  • Inward Rectifier K(+) Channel Kir2.6 3 4
  • KIR2.6 2 3
  • TTPP2 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 18 2
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 18 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 18 4
  • Thyrotoxic Periodic Paralysis Susceptibility Ion Channel 3
  • Potassium Voltage-Gated Channel Subfamily J Member 18 3
  • Inwardly Rectifying Potassium Channel 18 3
  • KCNJ18 5

External Ids for KCNJ18 Gene

Previous GeneCards Identifiers for KCNJ18 Gene

  • GC00U930362
  • GC17U901422
  • GC00M000095
  • GC17Pr21596
  • GC17P8V0344
  • GC17P022280
  • GC17P022406
  • GC17P025065
  • GC17P025372
  • GC17P025450
  • GC17P026220
  • GC17P022734
  • GC17P023066
  • GC17P023354
  • GC17P023646
  • GC17P023950
  • GC17P024295
  • GC17P024576
  • GC17P024861

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 Inwardly Rectifying Channel Subfamily J Member 18) is a Protein Coding gene. Diseases associated with KCNJ18 include Thyrotoxic Periodic Paralysis 2 and Thyrotoxic Periodic Paralysis 1. Among its related pathways are Oxytocin signaling pathway and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ12.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNJ18 Gene

Genomics for KCNJ18 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNJ18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J021126 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.1 -565.1 -565122 3.6 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 RFX1 IKZF1 ZNF692 POLR2A DHRS7B TMEM11 MAP2K3 KCNJ18 NATD1 FJ601684-172
GH17J021098 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE CraniofacialAtlas 2.2 -593.3 -593280 1.5 SP1 CTCF PRDM10 ZNF629 SIX5 IKZF1 FOS LARP7 PRDM1 ZNF143 LINC01563-001 HSALNG0115244 USP22 KCNJ18 LINC01563 DHRS7B
GH17J021368 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 2.4 -322.1 -322122 3.6 PRDM10 ZNF692 ZIC2 POLR2A ZNF600 ZNF341 ZBTB20 SP2 GATAD2B CEBPB KCNJ12 KCNJ18 HSALNG0115272 MAP2K3
GH17J020911 Enhancer 0.2 FANTOM5 4.5 -781.0 -780973 0.2 lnc-DHRS7B-10 CCDC144NL-AS1 KCNJ18 CCDC144CP RNASEH1P1 USP22 CDRT15L2
GH17J021549 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0.1 -141.8 -141821 3.2 RNF2 GATAD2A ZNF629 ZNF692 PRDM1 ZIC2 RBFOX2 PATZ1 IRF2 ZNF501 LINC02693 ENSG00000266673 lnc-KCNJ12-10 MEIS3P2 ENSG00000235530 piR-41746 KCNJ18 KCNJ12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNJ18 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ18

Genomic Locations for KCNJ18 Gene

Genomic Locations for KCNJ18 Gene
chr17:21,692,523-21,705,700
(GRCh38/hg38)
Size:
13,178 bases
Orientation:
Plus strand

Genomic View for KCNJ18 Gene

Genes around KCNJ18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
    • A0A075B742
    • A0A142CKZ1
    • A0A142CKZ2

    Protein attributes for KCNJ18 Gene

    Size:
    433 amino acids
    Molecular mass:
    48880 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KCNJ18 Gene

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 & Families for KCNJ18 Gene

Gene Families for KCNJ18 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for KCNJ18 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel, inwardly rectifying subfamily J member 18 (IRK18_HUMAN)

Graphical View of Domain Structure for InterPro Entry

B7U540

UniProtKB/Swiss-Prot:

KCJ18_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily.
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.

Phenotypes From GWAS Catalog for KCNJ18 Gene

Gene Ontology (GO) - Molecular Function for KCNJ18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity IBA,IMP 21665951
GO:0005244 voltage-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with KCNJ18: view

Human Phenotype Ontology for KCNJ18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ18

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNJ18 gene
Compartment Confidence
plasma membrane 5
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNJ18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 20074522
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ18: view

Pathways & Interactions for KCNJ18 Gene

PathCards logo

SuperPathways for KCNJ18 Gene

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

Pathways by source for KCNJ18 Gene

2 KEGG pathways for KCNJ18 Gene

Gene Ontology (GO) - Biological Process for KCNJ18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IBA 21873635
GO:1990573 potassium ion import across plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with KCNJ18: view

No data available for SIGNOR curated interactions for KCNJ18 Gene

Drugs & Compounds for KCNJ18 Gene

No Compound Related Data Available

Transcripts for KCNJ18 Gene

mRNA/cDNA for KCNJ18 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ18

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

No ASD Table

Relevant External Links for KCNJ18 Gene

GeneLoc Exon Structure for
KCNJ18

Expression for KCNJ18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNJ18 Gene

mRNA Expression by UniProt/SwissProt for KCNJ18 Gene:

B7U540-KCJ18_HUMAN
Tissue specificity: Specifically expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for KCNJ18 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ18 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with KCNJ18: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNJ18 Gene

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 30
  • 72.2 (n)
Species where no ortholog for KCNJ18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNJ18: view image

Paralogs for KCNJ18 Gene

(16) SIMAP similar genes for KCNJ18 Gene using alignment to 1 proteins:

  • IRK18_HUMAN
genes like me logo Genes that share paralogs with KCNJ18: view

Variants for KCNJ18 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ18 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1469374904 Uncertain Significance: Thyrotoxic periodic paralysis 2 21,703,441(+) C/T MISSENSE_VARIANT
rs527236151 Pathogenic: Thyrotoxic periodic paralysis, susceptibility to, 1. - 21,702,913(+) C/Tp.Arg43Cys MISSENSE_VARIANT
rs527236152 Pathogenic: Thyrotoxic periodic paralysis, susceptibility to, 1. Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] 21,703,205(+) C/Tp.Thr140Met MISSENSE_VARIANT
rs527236153 Pathogenic, Risk Factor: Thyrotoxic periodic paralysis, susceptibility to, 1; Thyrotoxic periodic paralysis 2 21,703,213(+) AC/A FRAMESHIFT_VARIANT
rs527236154 Pathogenic: Thyrotoxic periodic paralysis, susceptibility to, 1. Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] 21,703,288(+) G/Ap.Val168Met MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KCNJ18 Gene

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

Variant ID Type Subtype PubMed ID
dgv3128n100 CNV gain 25217958
dgv539e199 CNV deletion 23128226
esv2660756 CNV deletion 23128226
esv2751621 CNV gain 17911159
esv2758681 CNV gain+loss 17122850
nsv1059146 CNV gain 25217958
nsv470584 CNV gain 18288195
nsv516664 CNV gain+loss 19592680

Additional Variant Information for KCNJ18 Gene

Human Gene Mutation Database (HGMD)
KCNJ18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for KCNJ18 Gene

Disorders for KCNJ18 Gene

MalaCards: The human disease database

(18) MalaCards diseases for KCNJ18 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thyrotoxic periodic paralysis 2
  • thyrotoxic periodic paralysis, susceptibility to, 2
thyrotoxic periodic paralysis 1
  • thyrotoxic periodic paralysis, susceptibility to, 1
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
periodic paralysis
exophthalmic ophthalmoplegia
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:21665951, ECO:0000269 PubMed:25885757, ECO:0000269 PubMed:27178871}. 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

No data available for Genatlas for KCNJ18 Gene

Publications for KCNJ18 Gene

  1. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. (PMID: 20074522) Ryan DP … Ptácek LJ (Cell 2010) 2 3 4
  2. A novel Kir2.6 mutation associated with hypokalemic periodic paralysis. (PMID: 27178871) Zheng J … Yan C (Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2016) 3 4
  3. The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis. (PMID: 25885757) Li X … Hong D (BMC neurology 2015) 3 4
  4. Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis. (PMID: 21665951) Cheng CJ … Huang CL (The Journal of biological chemistry 2011) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for KCNJ18 Gene

Sources for KCNJ18 Gene