KCNJ18 Gene
protein-coding GIFtS: 23
GCID: GC17Pr21596
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potassium inwardly-rectifying channel, subfamily J, member...
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Aliases
for KCNJ18 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
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| Potassium Inwardly-Rectifying Channel, Subfamily J, Member 181 2 | | Potassium Channel, Inwardly Rectifying Subfamily J Member 182 3 | | KIR2.61 2 5 | | Inward Rectifier Potassium Channel 182 | | TTPP21 2 5 | | Thyrotoxic Periodic Paralysis Susceptibility Ion Channel2 | | Inward Rectifier K(+) Channel Kir2.62 3 | | |
Export aliases for KCNJ18 gene to outside databasesPrevious GC identifers: GC00U930362 GC17U901422 GC00M000095 |
Summaries
for KCNJ18 gene(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 KCNJ18:
This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus isregulated 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, Jan2013)
UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540Function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow intothe 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 inwardrectification is mainly due to the blockage of outward current by internal magnesium
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Genomic Views
for KCNJ18 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for KCNJ18
Other transcription factors
Search SABiosciences Chromatin IP Primers for KCNJ18
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ18 |
Genomic Location:
Chromosome:17
HGNC chromosome: 17GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17Pr21596: view genomic region
(about GC identifiers)
Start:
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21,596,525 bp from start of contig PATCHES |
End:
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21,608,614 bp from start of contig PATCHES |
Size:
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12,090 bases |
Orientation:
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plus strand |
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Proteins
for KCNJ18 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540 (See
protein sequence)Recommended Name: Inward rectifier potassium channel 18 Size: 433 amino acids; 48738 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (Probable)Explore the universe of human proteins at neXtProt for KCNJ18: NX_B7U540
Post-translational modifications:
Probably phosphorylated by PKC; decreases single-channel open probability1
View neXtProt modification sites for NX_B7U540
KCNJ18 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001181887.2
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0005886 | plasma membrane |
IDA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
KCNJ18 for ontologies About GeneDecksing
KCNJ18 Antibody Products:
Assay Products for KCNJ18: |
Protein
Domains /
Families
for KCNJ18 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KCNJ18 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry B7U540ProtoNet protein and cluster: B7U540 UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily |
Function
for KCNJ18 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540Function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow intothe 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 inwardrectification is mainly due to the blockage of outward current by internal magnesiumInduction: Up-regulated by triiodothyronine
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ18 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005242 | inward rectifier potassium channel activity |
IDA | -- |
KCNJ18 for ontologies About GeneDecksing
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Pathways & Interactions
for KCNJ18 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNJ18
|
Drugs & Compounds
for KCNJ18 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for KCNJ18
Search CenterWatch for drugs/clinical trials and news about KCNJ18 / IRK18 
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Transcripts
for KCNJ18 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
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REFSEQ mRNAs for KCNJ18 gene: NM_001194958.2
GeneLoc Exon Structure
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Expression
for KCNJ18 gene
(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
| See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --
See KCNJ18 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNJ18
UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540Tissue specificity: Specifically expressed in skeletal muscle
SABiosciences Custom PCR Arrays for KCNJ18
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat KCNJ18 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNJ18 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNJ18 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ18 |
Orthologs
for KCNJ18 gene
(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
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--
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Paralogs
for KCNJ18 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for KCNJ18 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
Human Gene Mutation Database (HGMD): KCNJ18
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for KCNJ18 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KCNJ18 for disorders About GeneDecksing
OMIM gene information: 613236
OMIM disorders: 613239
UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540
Defects in KCNJ18 are a cause of susceptibility to thyrotoxic hypokalemic periodic paralysis (TTPP2)[MIM:613239]. A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxicstate. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidismis an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscularweakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered byingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodicparalysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Gravesdisease
4  diseases for KCNJ18: About MalaCardsthyrotoxic periodic paralysis paralysis hypokalemic periodic paralysis thyroiditis
Export disorders for KCNJ18 gene to outside databases
|
Publications
for KCNJ18 gene (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 KCNJ18 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KCNJ18) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in potassium channel Kir2.6 cause susceptib ility to thyrotoxic hypokalemic periodic paralysis. (PubMed id 20074522)1, 2, 3 Ryan D.P....PtA!cek L.J. (2010)
- Identification and functional characterization of Kir 2.6 mutations associated with non-familial hypokalemic periodic paralysis. (PubMed id 21665951)1 Cheng C.J....Huang C.L. (2011)
- Kir2.6 regulates the surface expression of Kir2.x inw ard rectifier potassium channels. (PubMed id 21209095)1 Dassau L....Vandenberg C.A. (2011)
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External Searches for KCNJ18 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing KCNJ18 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KCNJ18 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNJ18 gene(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
|
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About This Section
| Patent Information for KCNJ18 gene:
Search GeneIP for patents involving KCNJ18
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KCNJ18 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KCNJ18 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNJ18 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ18 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNJ18 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNJ18 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNJ18 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ18 |
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