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Aliases for KCNJ18 Gene

Aliases for KCNJ18 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 18 2 3 5
  • Inward Rectifier K(+) Channel Kir2.6 3 4
  • 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
  • Inwardly Rectifying Potassium Channel 18 3
  • Inward Rectifier Potassium Channel 18 3
  • KIR2.6 3
  • TTPP2 3

External Ids for KCNJ18 Gene

Previous GeneCards Identifiers for KCNJ18 Gene

  • GC00U930362
  • GC17U901422
  • GC00M000095
  • GC17Pr21596
  • GC17P8V0344
  • GC17P022280
  • GC17P022406
  • GC17P022734
  • GC17P023066
  • GC17P023354

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 Voltage-Gated Channel 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. An important paralog of this gene is KCNJ12.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ18 Gene

Genomics for KCNJ18 Gene

Regulatory Elements for KCNJ18 Gene

Enhancers for KCNJ18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G021126 1.6 FANTOM5 ENCODE dbSUPER 3.1 -565.4 -565428 2.8 PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS TMEM11 DHRS7B MAP2K3 KCNJ18 NATD1 GC17M021160
GH17G021098 1.6 FANTOM5 Ensembl ENCODE 2.2 -593.2 -593169 1.7 HDGF PKNOX1 ATF1 CREB3L1 ARNT ARID4B E2F7 SIN3A FEZF1 ZNF2 KCNJ18 DHRS7B LINC01563
GH17G021368 0.6 FANTOM5 2.4 -323.4 -323435 0.2 BCOR SMARCA5 ZMYM3 CEBPB GATAD2B EBF1 KDM1A ZIC2 KCNJ18 KCNJ12 GC17P024175
GH17G020911 0.3 FANTOM5 4.5 -781.0 -780973 0.2 CCDC144NL-AS1 KCNJ18 CCDC144CP LOC105369205 RNASEH1P1
GH17G021689 0.2 Ensembl 0.7 -2.6 -2623 0.6 KCNJ18 ENSG00000274748
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNJ18 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNJ18 Gene

Chromosome:
17
Start:
21,692,523 bp from pter
End:
21,705,700 bp from pter
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

    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

Suggested Antigen Peptide Sequences for KCNJ18 Gene

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.

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
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

Flow Cytometry Products

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.

Gene Ontology (GO) - Cellular Components for KCNJ18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 20074522
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNJ18: view

No data available for Subcellular locations from COMPARTMENTS for KCNJ18 Gene

Pathways & Interactions for KCNJ18 Gene

SuperPathways for KCNJ18 Gene

No Data Available

Interacting Proteins for KCNJ18 Gene

Selected Interacting proteins: B7U540-KCJ18_HUMAN for KCNJ18 Gene via IID

Gene Ontology (GO) - Biological Process for KCNJ18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0010107 potassium ion import IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNJ18: view

No data available for Pathways by source and SIGNOR curated interactions 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 :

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ18 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNJ18 Gene:

KCNJ18

mRNA Expression by UniProt/SwissProt for KCNJ18 Gene:

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

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
Organs:
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 , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES 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 34
  • 72.2 (n)
Species where no ortholog for KCNJ18 was found in the sources mined by GeneCards:
  • 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

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

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

Variants for KCNJ18 Gene

Sequence variations from dbSNP and Humsavar for KCNJ18 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs527236152 Pathogenic, Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] 21,703,205(+) CGAGA(C/T)GCAGA reference, missense
rs527236158 Pathogenic, Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] 21,703,847(+) CTCTA(C/T)GCCCC reference, missense
rs527236159 Pathogenic, Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] 21,703,883(+) GAACA(A/G)GTTCC reference, missense
rs672601244 other, Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] 21,703,400(+) CCTGC(A/G)TGACG reference, missense
rs527236151 Pathogenic 21,702,913(+) GGTGC(C/T)GCAAC reference, missense

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

Relevant External Links 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

(3) MalaCards diseases for KCNJ18 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
thyrotoxic periodic paralysis 2
  • ttpp2
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
thyrotoxic periodic paralysis 1
  • thyrotoxic hypokalemic periodic paralysis
- 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}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for KCNJ18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ18
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 D.P. … Ptacek L.J. (Cell 2010) 2 3 4 64
  2. Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients. (PMID: 25882930) Kuhn M. … Lehmann-Horn F. (J. Neurol. Neurosurg. Psychiatr. 2016) 3 64
  3. The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis. (PMID: 25885757) Li X. … Hong D. (BMC Neurol 2015) 3 64
  4. Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis. (PMID: 22910584) Chu P.Y. … Lin S.H. (Clin. Chim. Acta 2012) 3 64
  5. 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 64

Products for KCNJ18 Gene

Sources for KCNJ18 Gene

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