Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	100134444
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium inwardly rectifying channel subfamily J member 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNJ18
Synonyms (NCBI Gene) Gene synonyms aliases	KIR2.6, TTPP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	TTPP2
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p11.2
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(10)

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

Show/Hide all(14)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(9)

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

MIM	HGNC	e!Ensembl
613236	39080	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

Interactions

View interactions

	KEGG
	Cholinergic synapse Oxytocin signaling pathway

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
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 View all (8 more)	20074522
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis	20074522	ClinVar
Thyrotoxic Periodic Paralysis	thyrotoxic periodic paralysis, susceptibility to, 2		GenCC

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
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

KCNJ18 (potassium inwardly rectifying channel subfamily J member 18)