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: 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	21873635
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	20074522
GO:0005242	Function	Inward rectifier potassium channel activity	IMP	21665951
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	20074522, 21665951
GO:0016021	Component	Integral component of membrane	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635

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

• Sequence:

  MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANM
  DEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGR
  TPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAI
  MAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEE
  GEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE
  GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAK
  DLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGG
  VLEQRPYRRGSEI

• Sequence length: 433

Pathways

KEGG:

Cholinergic synapse
Oxytocin signaling pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrioventricular block	Second degree atrioventricular block	rs766840243, rs763809932
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167
Hypokalemic periodic paralysis	Hypokalemic periodic paralysis type 1	rs80338957, rs121908544, rs121908548, rs80338784, rs80338788, rs80338785, rs121908555, rs121908557, rs28930068, rs28930069, rs80338777, rs267606698, rs80338778, rs80338789, rs527236148, rs527236150, rs367983954, rs1558056376, rs148317787, rs1287079817, rs1572049461, rs1572023336, rs1287863349	20074522
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis	rs527236153, rs527236158, rs672601244, rs527236159, rs28986463	20074522
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Unknown
Disease name	Disease term	dbSNP ID	References
Graves disease	Graves Disease
Periodic hypokalemic paresis	Periodic hypokalemic paresis
Periodic paralysis	Familial Periodic Paralysis, periodic paralysis (finding)
Quadriplegia	Quadriplegia
Thyrotoxicosis with toxic single thyroid nodule	Thyrotoxicosis with toxic single thyroid nodule
Toxic goiter	Toxic multinodular goiter