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.	3762
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium inwardly rectifying channel subfamily J member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNJ5
Synonyms (NCBI Gene) Gene synonyms aliases	CIR, GIRK4, KATP1, KIR3.4, LQT13
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140697732	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199830292	G>C	Pathogenic, likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs200170681	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs386352318	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386352319	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs387906778	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777437	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs587777438	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777439	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(274)

miRTarBase ID	miRNA	Experiments
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081548	hsa-miR-1273f	CLIP-seq
MIRT1081549	hsa-miR-128	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT1081551	hsa-miR-143	CLIP-seq
MIRT1081552	hsa-miR-1909	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT1081560	hsa-miR-3689a-3p	CLIP-seq
MIRT1081561	hsa-miR-3689c	CLIP-seq
MIRT1081562	hsa-miR-3689d	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081564	hsa-miR-4302	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081567	hsa-miR-4534	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081570	hsa-miR-4708-5p	CLIP-seq
MIRT1081571	hsa-miR-4728-5p	CLIP-seq
MIRT1081572	hsa-miR-4770	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081575	hsa-miR-541	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081578	hsa-miR-654-5p	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT2020212	hsa-miR-3182	CLIP-seq
MIRT2020213	hsa-miR-3199	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT2020214	hsa-miR-4269	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2020215	hsa-miR-4438	CLIP-seq
MIRT2020216	hsa-miR-4659a-3p	CLIP-seq
MIRT2020217	hsa-miR-4659b-3p	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT2020218	hsa-miR-4727-5p	CLIP-seq
MIRT2020219	hsa-miR-4740-3p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT2020221	hsa-miR-5095	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT1081548	hsa-miR-1273f	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT1081551	hsa-miR-143	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT2020213	hsa-miR-3199	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT2020214	hsa-miR-4269	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2020215	hsa-miR-4438	CLIP-seq
MIRT1081567	hsa-miR-4534	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081570	hsa-miR-4708-5p	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2020218	hsa-miR-4727-5p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020219	hsa-miR-4740-3p	CLIP-seq
MIRT1081572	hsa-miR-4770	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT2020221	hsa-miR-5095	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT2252039	hsa-miR-760	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT2555392	hsa-miR-4794	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT2555392	hsa-miR-4794	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	12297500, 20560207
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IMP	8558261, 22628607, 24037882, 27099398, 27293068
GO:0005515	Function	Protein binding	IPI	12297500, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	8834003
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	20560207
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	8834003
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	IDA	8558261, 8868049
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	IEA
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	IEA
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	TAS	8834003
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:0071805	Process	Potassium ion transmembrane transport	NAS	19703462
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP	20560207
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	20560207
GO:0098914	Process	Membrane repolarization during atrial cardiac muscle cell action potential	IMP	20560207
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:0099625	Process	Ventricular cardiac muscle cell membrane repolarization	IC	20560207
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IC	20560207
GO:1902937	Component	Inward rectifier potassium channel complex	IEA
GO:1990566	Component	I(KACh) inward rectifier potassium channel complex	ISO
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	12297500, 20560207

MIM	HGNC	e!Ensembl
600734	6266	ENSG00000120457

Protein

UniProt ID

P48544

Protein name

G protein-activated inward rectifier potassium channel 4 (GIRK-4) (Cardiac inward rectifier) (CIR) (Heart KATP channel) (Inward rectifier K(+) channel Kir3.4) (IRK-4) (KATP-1) (Potassium channel, inwardly rectifying subfamily J member 5)

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
PF01007	IRK	54 → 193	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	200 → 372	Inward rectifier potassium channel C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona glomerulosa. {ECO:0000269|PubMed:21311022}.

Sequence

MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKC
NVHHGNVQETYRYLSDLFTTLVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDH
VGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIILLLVQAILGSIVNA
FMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFE
VVVILEGMVEATGMTCQARSSYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTP
SCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQNEEDEPKGLGGSREARGSV

Sequence length

419

Interactions

View interactions

	KEGG		Reactome
	Circadian entrainment Retrograde endocannabinoid signaling Serotonergic synapse Dopaminergic synapse Estrogen signaling pathway Oxytocin signaling pathway Aldosterone synthesis and secretion GnRH secretion Morphine addiction		Activation of G protein gated Potassium channels Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
andersen tawil syndrome	Andersen Tawil syndrome	rs387906778	N/A
Hyperaldosteronism	familial hyperaldosteronism type iii	rs587777438, rs587777439, rs387906778, rs386352319, rs587777437	N/A
Long QT Syndrome	long qt syndrome	rs386352319, rs587777437	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Congenital Long QT Syndrome	congenital long qt syndrome	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
ACTH Secreting Pituitary Adenoma	Associate	25069672, 26743443, 27165862
Adenoma	Associate	26743443, 28102204, 28604387, 30354756, 31446799, 32114847, 32921192, 34630330
Adrenal Cortex Neoplasms	Associate	22848660, 31637427
Adrenal Gland Neoplasms	Associate	22863749, 26351028, 32717082
Adrenal Hyperplasia Congenital	Associate	21311022, 22308486
Adrenal Insufficiency	Associate	22863749
Adrenocortical Adenoma	Associate	22863749, 26765578, 27165862, 35399924, 36960396
Adrenocortical Carcinoma	Associate	22315453, 35185794
Andersen Syndrome	Associate	28336205, 33345742
Aortic Aneurysm Familial Abdominal 1	Associate	35311227
Arrhythmias Cardiac	Associate	27707468
Atrial Fibrillation	Inhibit	11693772
Atrial Fibrillation	Associate	27462069
Attention Deficit Disorder with Hyperactivity	Associate	24840790
Bartter Syndrome	Associate	21311022, 22308486, 22848660, 27681703
Breast Neoplasms	Associate	15603589
Brugada Syndrome	Associate	27707468, 39940965
Calcinosis	Associate	35311227
Cardiomyopathy Dilated	Associate	24339868
Cardiovascular Diseases	Associate	25253161
Cushing Syndrome	Associate	26743443, 27165862, 27403928, 32921192, 36960396
Diabetes Insipidus	Associate	25322277
Diabetes Mellitus	Associate	28804970
Drug Resistant Epilepsy	Associate	25057880, 36051386
Essential Hypertension	Associate	23382865
Familial Hyperaldosteronism	Associate	22315453
Hearing Loss Unilateral	Associate	40302475
Heart Diseases	Associate	24427266
Herpes Zoster	Associate	27777363, 28368480
Hyperaldosteronism	Associate	21311022, 22308486, 22315453, 22323562, 22628607, 22628608, 22798349, 22848660, 22863749, 23382865, 24037882, 24082052, 24403568, 24866132, 25057880 View all (51 more)
Hyperplasia	Associate	22308486, 22848660, 31637427, 33630995, 40302475
Hypertension	Associate	21311022, 22308486, 22628607, 25057880, 25253161, 27293068, 28415786, 33678553
Hypertrophy Left Ventricular	Associate	25253161
Long QT Syndrome	Associate	20560207, 24561134
MASS syndrome	Associate	25906099
Muscular Dystrophy Congenital Producing Arthrogryposis	Associate	26765578
Neoplasms	Associate	22323562, 23913001, 26252618, 27165862, 30354756, 33678553
Neuroendocrine Tumors	Associate	39536727
Osteosarcoma	Associate	37986397
Paralysis Hyperkalemic Periodic	Associate	33345742
Pheochromocytoma	Associate	39536727
Sick Sinus Syndrome	Associate	37894977
Tourette Syndrome	Associate	24840790

KCNJ5 (potassium inwardly rectifying channel subfamily J member 5)