KCNJ18
entrez
100134444
canonical
uniprot
B7U540
canonical
ensembl
ENSG00000260458
resolver
ensp
ENSP00000457807
resolver
enst
ENST00000567955
resolver
genesymbol
KCNJ18
resolver
hgnc
HGNC:39080
resolver
uniprot
A0A075B742
resolver
uniprot
A0A142CKZ1
resolver
uniprot
A0A142CKZ2
resolver
uniprot_entry
KCJ18_HUMAN
resolver
uniprot_sec
A0A075B742
resolver
uniprot_sec
A0A142CKZ1
resolver
uniprot_sec
A0A142CKZ2
resolver
amino_acid_sequence
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:21665951, ECO:0000269|PubMed:25885757, ECO:0000269|PubMed:27178871}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:20074522, ECO:0000269|PubMed:27008341}.
uniprot
proteins
mass_dalton
48880
uniprot
proteins
mutagenesis
MUTAGEN 156; /note="L->P: Increased expression at the cell membrane."; /evidence="ECO:0000269|PubMed:21209095"; MUTAGEN 354; /note="T->E: Decreases the single-channel open probability (Po) without altering its conductance."; /evidence="ECO:0000269|PubMed:20074522
uniprot
proteins
post_translational_modification
PTM: Probably phosphorylated by PKC; decreases single-channel open probability. {ECO:0000269|PubMed:20074522}.
uniprot
proteins
protein_family
Inward rectifier-type potassium channel (TC 1.A.2.1) family
uniprot
proteins
protein_family
KCNJ12 subfamily
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
20074522
uniprot
proteins
pubmed
21209095
uniprot
proteins
pubmed
21665951
uniprot
proteins
pubmed
25885757
uniprot
proteins
pubmed
27008341
uniprot
proteins
pubmed
27178871
uniprot
proteins
sequence_length
433
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21209095, ECO:0000269|PubMed:21665951}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:21209095}.
uniprot
proteins
transmembrane_region
TRANSMEM 78..104; /note="Helical; Name=M1"; /evidence="ECO:0000250|UniProtKB:F1NHE9"; TRANSMEM 156..183; /note="Helical; Name=M2"; /evidence="ECO:0000250|UniProtKB:F1NHE9
uniprot
proteins