KCNJ5
entrez
3762
canonical
uniprot
P48544
canonical
ensembl
ENSG00000120457
resolver
ensp
ENSP00000339960
resolver
ensp
ENSP00000433295
resolver
ensp
ENSP00000434266
resolver
ensp
ENSP00000574717
resolver
ensp
ENSP00000627795
resolver
ensp
ENSP00000627796
resolver
ensp
ENSP00000627797
resolver
ensp
ENSP00000627798
resolver
ensp
ENSP00000627799
resolver
enst
ENST00000338350
resolver
enst
ENST00000529694
resolver
enst
ENST00000533599
resolver
enst
ENST00000904658
resolver
enst
ENST00000957736
resolver
enst
ENST00000957737
resolver
enst
ENST00000957738
resolver
enst
ENST00000957739
resolver
enst
ENST00000957740
resolver
genesymbol
KCNJ5
resolver
genesymbol_syn
GIRK4
resolver
hgnc
HGNC:6266
resolver
uniprot
A0A5J6E2W8
resolver
uniprot
B2R744
resolver
uniprot
Q6DK13
resolver
uniprot
Q6DK14
resolver
uniprot
Q92807
resolver
uniprot_entry
A0A5J6E2W8_HUMAN
resolver
uniprot_entry
KCNJ5_HUMAN
resolver
uniprot_sec
B2R744
resolver
uniprot_sec
Q6DK13
resolver
uniprot_sec
Q6DK14
resolver
uniprot_sec
Q92807
resolver
activity_regulation
ACTIVITY REGULATION: Heteromultimer composed of KCNJ3/GIRK1 and KCNJ5/GIRK4 is activated by phosphatidylinositol 4,5 biphosphate (PtdIns(4,5)P2). {ECO:0000250|UniProtKB:P48548}.
uniprot
proteins
amino_acid_sequence
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTTLVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIKSRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARSSYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQNEEDEPKGLGGSREARGSV
uniprot
proteins
disease_involvement
DISEASE: Long QT syndrome 13 (LQT13) [MIM:613485]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:20560207}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677]: A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension. {ECO:0000269|PubMed:21311022, ECO:0000269|PubMed:22203740, ECO:0000269|PubMed:22275527, ECO:0000269|PubMed:22308486, ECO:0000269|PubMed:22315453, ECO:0000269|PubMed:22628607, ECO:0000269|PubMed:22848660, ECO:0000269|PubMed:24037882, ECO:0000269|PubMed:27099398}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas and can be responsible for aldosteronism associated with cell autonomous proliferation. APAs are typically solitary, well circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening hypertension, often with hypokalemia. The precise role of KCNJ5 mutations in APA is under debate. They produce increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation. However, they may not be causative of APA development but may be a consequence of tumorigenesis, playing only a contributory role toward aldosterone overproduction and tumor growth (PubMed:22275527). Somatic mutations in KCNJ5 have not been found in non-aldosterone secreting adrenal adenomas suggesting that they are specifically associated with APA (PubMed:22275527, PubMed:22848660). {ECO:0000269|PubMed:21311022, ECO:0000269|PubMed:22203740, ECO:0000269|PubMed:22275527, ECO:0000269|PubMed:22848660}.; DISEASE: Note=Mutations in KCNJ5 are involved in the pathogenesis of hypertension without primary aldosteronism but with increased aldosterone response to ACTH stimulation. {ECO:0000269|PubMed:27293068}.
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. Can be blocked by external barium. This potassium channel is controlled by G proteins. {ECO:0000269|PubMed:22315453, ECO:0000269|PubMed:22628607, ECO:0000269|PubMed:24037882, ECO:0000269|PubMed:27099398, ECO:0000269|PubMed:27293068, ECO:0000269|PubMed:8558261, ECO:0000269|PubMed:8868049}.
uniprot
proteins
mass_dalton
47668
uniprot
proteins
protein_family
Inward rectifier-type potassium channel (TC 1.A.2.1) family
uniprot
proteins
protein_family
KCNJ5 subfamily
uniprot
proteins
pubmed
10659995
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
20560207
uniprot
proteins
pubmed
21311022
uniprot
proteins
pubmed
22203740
uniprot
proteins
pubmed
22275527
uniprot
proteins
pubmed
22308486
uniprot
proteins
pubmed
22315453
uniprot
proteins
pubmed
22628607
uniprot
proteins
pubmed
22848660
uniprot
proteins
pubmed
24037882
uniprot
proteins
pubmed
27099398
uniprot
proteins
pubmed
27293068
uniprot
proteins
pubmed
8047164
uniprot
proteins
pubmed
8524415
uniprot
proteins
pubmed
8558261
uniprot
proteins
pubmed
8834003
uniprot
proteins
pubmed
8868049
uniprot
proteins
sequence_length
419
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:22315453, ECO:0000269|PubMed:24037882}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 87..111; /note="Helical; Name=M1"; /evidence="ECO:0000250"; TRANSMEM 164..185; /note="Helical; Name=M2"; /evidence="ECO:0000250
uniprot
proteins