KCNJ18 (potassium inwardly rectifying channel subfamily J member 18)

Gene

• Entrez ID: 100134444
• Gene name: Potassium inwardly rectifying channel subfamily J member 18
• Gene symbol: KCNJ18
• Synonyms (NCBI Gene): KIR2.6, TTPP2
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs527236151	C>T	Pathogenic	Coding sequence variant, missense variant
rs527236152	C>T	Pathogenic	Coding sequence variant, missense variant
rs527236153	C>-	Risk-factor, pathogenic	Frameshift variant, coding sequence variant
rs527236154	G>A	Pathogenic	Coding sequence variant, missense variant
rs527236155	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs527236156	C>T	Pathogenic	Stop gained, coding sequence variant
rs527236157	C>T	Pathogenic	Stop gained, coding sequence variant
rs527236158	C>T	Risk-factor, pathogenic	Coding sequence variant, missense variant
rs527236159	A>G	Risk-factor, pathogenic	Coding sequence variant, missense variant
rs672601244	G>A	Risk-factor	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1081481	hsa-miR-1229	CLIP-seq
MIRT1081482	hsa-miR-129-5p	CLIP-seq
MIRT1081483	hsa-miR-132	CLIP-seq
MIRT1081484	hsa-miR-212	CLIP-seq
MIRT1081485	hsa-miR-30a	CLIP-seq
MIRT1081486	hsa-miR-30b	CLIP-seq
MIRT1081487	hsa-miR-30c	CLIP-seq
MIRT1081488	hsa-miR-30d	CLIP-seq
MIRT1081489	hsa-miR-30e	CLIP-seq
MIRT2020184	hsa-miR-1204	CLIP-seq
MIRT2020185	hsa-miR-361-3p	CLIP-seq
MIRT2020186	hsa-miR-4459	CLIP-seq
MIRT2020187	hsa-miR-4655-3p	CLIP-seq
MIRT2020188	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	20074522
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IMP	21665951
GO:0005515	Function	Protein binding	IPI	32296183, 32541000
GO:0005783	Component	Endoplasmic reticulum	IDA	21209095
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20074522, 21665951
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

Other IDs

• MIM: 613236
• HGNC: 39080
• e!Ensembl: ENSG00000260458

Protein

• UniProt ID: B7U540
• Protein name: Inward rectifier potassium channel 18 (Inward rectifier K(+) channel Kir2.6) (Potassium channel, inwardly rectifying subfamily J member 18)
• Protein 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 potass
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08466	IRK_N	2 → 46	Inward rectifier potassium channel N-terminal	Family
  PF01007	IRK	47 → 187	Inward rectifier potassium channel transmembrane domain	Domain
  PF17655	IRK_C	194 → 367	Inward rectifier potassium channel C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in skeletal muscle. {ECO:0000269|PubMed:20074522}.
• Sequence:

  MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANM
  DEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGR
  TPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAI
  MAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEE
  GEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE
  GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAK
  DLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGG
  VLEQRPYRRGSEI

• Sequence length: 433

Pathways

KEGG:

Cholinergic synapse
Oxytocin signaling pathway

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
KCNJ18-related disorder	Benign; Likely benign	rs1267282483, rs1274704146, rs2508024436	RCV003982543 RCV003951869 RCV003931629
Thyrotoxic periodic paralysis, susceptibility to, 2	risk factor; Uncertain significance	rs527236153, rs527236158, rs672601244, rs527236159, rs1369395713, rs1469374904	RCV000000228 RCV000000229 RCV000000230 RCV000000231 RCV002496212 RCV000523433

Associations from Text Mining
Disease Name	Relationship Type	References
Anemia Aplastic	Stimulate	35435273
Carcinoma Non Small Cell Lung	Associate	37694353
Carcinoma Squamous Cell	Associate	37694353
Hypokalemia	Associate	21665951
Hypokalemic Periodic Paralysis	Associate	21665951
Muscle Weakness	Associate	25885757
Myalgia	Associate	25885757
Pancreatic Neoplasms	Associate	33144687
Paralyses Familial Periodic	Associate	21665951, 25882930, 30838349
Paralysis	Associate	20074522