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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3762
Gene name	Potassium inwardly rectifying channel subfamily J member 5
Gene symbol	KCNJ5
Synonyms (NCBI Gene)	CIRGIRK4KATP1KIR3.4LQT13
Chromosome	11
Chromosome location	11q24.3
Summary	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

274

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

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

856

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aldosterone-producing adrenal adenoma, somatic	Pathogenic	rs387906778, rs386352319	RCV000122747 RCV000122749
Andersen Tawil syndrome	Pathogenic	rs387906778	RCV000194572
Cardiovascular phenotype	Pathogenic	rs386352319	RCV002326795
Familial hyperaldosteronism type III	Pathogenic	rs587777437, rs587777438, rs587777439, rs387906778, rs386352319	RCV000122751 RCV000122752 RCV000122753 RCV000023035 RCV000122750
Long QT syndrome	Pathogenic; Likely pathogenic	rs587777437, rs145901904, rs386352319	RCV001210015 RCV001966490 RCV003531964

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs45516097	RCV005890890
Clear cell carcinoma of kidney	Uncertain significance	rs777592481	RCV005929883
Congenital long QT syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs6590357, rs7118824, rs7118833, rs7102584, rs45516097, rs4937391, rs115012103, rs192889782, rs886047988, rs886047990, rs886047994, rs886047995, rs376640553, rs886047998, rs886048001 View all (60 more)	RCV000307277 RCV000389577 RCV000345335 RCV000291702 RCV000401026 RCV000341556 RCV000351711 RCV000297407 RCV000378579 RCV000280685 RCV000391238 RCV000363821 RCV000335459 RCV000308828 RCV000347962 RCV000368700 RCV000344874 RCV000388325 RCV000270565 RCV000384638 RCV000328098 RCV000350501 RCV000275360 RCV000381992 RCV000328750 RCV000371173 RCV000273313 RCV000357561 RCV000350245 RCV000267773 RCV000345161 RCV000377179 RCV000336476 RCV000287454 RCV000372452 RCV000295845 RCV000360545 RCV000305161 RCV000267619 RCV000339786 RCV000336068 RCV000301019 RCV000372696 RCV000280228 RCV000392654 RCV000309192 RCV000385811 RCV000293326 RCV000353736 RCV000329420 RCV000379581 RCV000327384 RCV000376406 RCV000284371 RCV000278157 RCV000384025 RCV000341775 RCV000261502 RCV000299994 RCV000392258 RCV000363460 RCV000324582 RCV000398967 RCV000354236 RCV000260142 RCV000262103 RCV000311867 RCV000296511 RCV000388891 RCV000291265 RCV000274122 RCV000398728 RCV000403480 RCV000311493 RCV000272685 RCV000268155 RCV000262249 RCV000293255 RCV000339137 RCV000299424 RCV000376600 RCV000366828 RCV000379022 RCV000392268 RCV000375530 RCV000296557 RCV000392793 RCV000276947 RCV000285934 RCV000293073 RCV000303119 RCV000354566 RCV000305788 RCV000357001 RCV000277891 RCV000325776
Familial hyperaldosteronism	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs886047988, rs886047990, rs886047994, rs886047995, rs886047998, rs886048001, rs886048002, rs886048003, rs886048020, rs6590358, rs886047996, rs36205004, rs144472942, rs886047987, rs886047992 View all (10 more)	RCV000286411 RCV000338099 RCV000298755 RCV000266866 RCV000400789 RCV000391635 RCV000391627 RCV000287529 RCV000333770 RCV000325571 RCV000290272 RCV000285077 RCV000279109 RCV000326094 RCV000348386 RCV000308189 RCV000406968 RCV000366259 RCV000399885 RCV000341267 RCV000384241 RCV000324088 RCV000318376 RCV000374990 RCV000350496 RCV000286831 RCV000333106 RCV000263599 RCV000268963 RCV000264690 RCV000278502 RCV000407864 RCV000339218 RCV000369815 RCV000368545 RCV000325343 RCV000302247 RCV000359244 RCV000389689 RCV000406970 RCV000356627 RCV000340598 RCV000337855 RCV000316316 RCV000302723
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs750424299, rs771919907	RCV000498609 RCV000852661
KCNJ5-related disorder	Likely benign; Benign; Uncertain significance	rs375205252, rs7102584, rs139870749, rs192889782, rs113012271, rs2497722474, rs146853795, rs138295501, rs149861510, rs750424299, rs143219149, rs147245544, rs141325005, rs750600982, rs370546974	RCV003900842 RCV003891662 RCV004757539 RCV004757167 RCV004757169 RCV003894141 RCV003930283 RCV003912795 RCV003970295 RCV004757237 RCV003917956 RCV003935757 RCV003928311 RCV003975381 RCV003955693
Long QT syndrome 13	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs781011854, rs1462481036, rs749202931, rs771161358, rs930047035, rs143790141, rs746985291, rs765873474, rs758377412, rs7118824, rs1475852457, rs778735978, rs892317617, rs748152068, rs7118833 View all (47 more)	RCV002493633 RCV005040174 RCV002486399 RCV002486441 RCV002504580 RCV002499752 RCV002504596 RCV002493976 RCV002495675 RCV002506537 RCV005396992 RCV002482313 RCV002492205 RCV002507769 RCV005050513 RCV002503522 RCV001730569 RCV001730570 RCV001730571 RCV001730572 RCV001730573 RCV002494064 RCV002499938 RCV002487016 RCV005042810 RCV005050569 RCV005050570 RCV005042828 RCV005050725 RCV005050731 RCV005045045 RCV002503801 RCV000009405 RCV002487053 RCV005047771 RCV002502203 RCV002494951 RCV002470842 RCV002480106 RCV002494950 RCV005044562 RCV002504061 RCV002480107 RCV002504062 RCV002502600 RCV002489207 RCV002489216 RCV002476101 RCV002491305 RCV002498968 RCV002491280 RCV002491312 RCV002477360 RCV002499042 RCV000678924 RCV002487729 RCV002495284 RCV002495299 RCV002497361 RCV002481920 RCV001089531 RCV002489752 RCV002484150 RCV002504470 RCV005040151
Malignant tumor of esophagus	Benign	rs45516097	RCV005890889
Ovarian serous cystadenocarcinoma	Benign	rs45516097	RCV005890892
Primary dilated cardiomyopathy	Benign; Likely benign	rs115012103	RCV000852660
Sarcoma	Benign	rs45516097	RCV005890891
See cases	Uncertain significance	rs1944587149	RCV002252472
Thymoma	Benign	rs45516097	RCV005890893
Uterine corpus endometrial carcinoma	Benign	rs45516097	RCV005890894

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)