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	3777
Gene name	Potassium two pore domain channel subfamily K member 3
Gene symbol	KCNK3
Synonyms (NCBI Gene)	K2p3.1OAT1PPH4TASKTASK-1TASK1TBAK1
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular

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SNP ID	Visualize variation	Clinical significance	Consequence
rs398123039	G>A	Pathogenic	Coding sequence variant, missense variant
rs398123040	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs398123041	G>C	Pathogenic	Coding sequence variant, missense variant
rs398123042	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs398123043	A>G	Pathogenic	Coding sequence variant, missense variant
rs1085307438	C>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1553387422	T>C	Likely-pathogenic	Coding sequence variant, missense variant

248

Show/Hide all (248)

miRTarBase ID	miRNA	Experiments	Reference
MIRT623516	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT623515	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT623514	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT623513	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT623516	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT623515	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT623514	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT623513	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT623512	hsa-miR-3199	HITS-CLIP	23824327
MIRT623511	hsa-miR-8052	HITS-CLIP	23824327
MIRT623510	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT623509	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT493435	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT493434	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT493433	hsa-miR-3621	PAR-CLIP	23592263
MIRT493432	hsa-miR-3656	PAR-CLIP	23592263
MIRT493431	hsa-miR-3180	PAR-CLIP	23592263
MIRT493430	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT493429	hsa-miR-3196	PAR-CLIP	23592263
MIRT493428	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT493427	hsa-miR-4417	PAR-CLIP	23592263
MIRT493426	hsa-miR-4265	PAR-CLIP	23592263
MIRT493424	hsa-miR-4296	PAR-CLIP	23592263
MIRT493425	hsa-miR-4322	PAR-CLIP	23592263
MIRT459615	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT459614	hsa-miR-4707-5p	PAR-CLIP	23592263
MIRT459613	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT459612	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT459611	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT459610	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT459609	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT459608	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT459606	hsa-miR-8085	PAR-CLIP	23592263
MIRT459607	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT459605	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT459603	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT459604	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT459602	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT459601	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT459600	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT459599	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT459598	hsa-miR-4651	PAR-CLIP	23592263
MIRT459597	hsa-miR-608	PAR-CLIP	23592263
MIRT459596	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT459595	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT459594	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT459593	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT459592	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT459591	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT459590	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT493430	hsa-miR-3180-3p	PAR-CLIP	26701625
MIRT493430	hsa-miR-3180-3p	PAR-CLIP	26701625
MIRT493430	hsa-miR-3180-3p	PAR-CLIP	26701625
MIRT493431	hsa-miR-3180	PAR-CLIP	26701625
MIRT493431	hsa-miR-3180	PAR-CLIP	26701625
MIRT493431	hsa-miR-3180	PAR-CLIP	26701625
MIRT493435	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT493435	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT493435	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT493429	hsa-miR-3196	PAR-CLIP	26701625
MIRT493429	hsa-miR-3196	PAR-CLIP	26701625
MIRT493429	hsa-miR-3196	PAR-CLIP	26701625
MIRT493433	hsa-miR-3621	PAR-CLIP	26701625
MIRT493433	hsa-miR-3621	PAR-CLIP	26701625
MIRT493433	hsa-miR-3621	PAR-CLIP	26701625
MIRT493432	hsa-miR-3656	PAR-CLIP	26701625
MIRT493432	hsa-miR-3656	PAR-CLIP	26701625
MIRT493432	hsa-miR-3656	PAR-CLIP	26701625
MIRT493434	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT493434	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT493434	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT493426	hsa-miR-4265	PAR-CLIP	26701625
MIRT493426	hsa-miR-4265	PAR-CLIP	26701625
MIRT493426	hsa-miR-4265	PAR-CLIP	26701625
MIRT493424	hsa-miR-4296	PAR-CLIP	26701625
MIRT493424	hsa-miR-4296	PAR-CLIP	26701625
MIRT493424	hsa-miR-4296	PAR-CLIP	26701625
MIRT493425	hsa-miR-4322	PAR-CLIP	26701625
MIRT493425	hsa-miR-4322	PAR-CLIP	26701625
MIRT493425	hsa-miR-4322	PAR-CLIP	26701625
MIRT493427	hsa-miR-4417	PAR-CLIP	26701625
MIRT493427	hsa-miR-4417	PAR-CLIP	26701625
MIRT493427	hsa-miR-4417	PAR-CLIP	26701625
MIRT493428	hsa-miR-6816-5p	PAR-CLIP	26701625
MIRT493428	hsa-miR-6816-5p	PAR-CLIP	26701625
MIRT493428	hsa-miR-6816-5p	PAR-CLIP	26701625
MIRT623516	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT623515	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT623514	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT623513	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT623516	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT623515	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT623514	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT623513	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT623512	hsa-miR-3199	HITS-CLIP	23824327
MIRT623511	hsa-miR-8052	HITS-CLIP	23824327
MIRT623510	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT623509	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT493435	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT493434	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT493433	hsa-miR-3621	PAR-CLIP	23592263
MIRT493432	hsa-miR-3656	PAR-CLIP	23592263
MIRT493431	hsa-miR-3180	PAR-CLIP	23592263
MIRT493430	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT493429	hsa-miR-3196	PAR-CLIP	23592263
MIRT493428	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT493427	hsa-miR-4417	PAR-CLIP	23592263
MIRT493426	hsa-miR-4265	PAR-CLIP	23592263
MIRT493424	hsa-miR-4296	PAR-CLIP	23592263
MIRT493425	hsa-miR-4322	PAR-CLIP	23592263
MIRT459615	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT459614	hsa-miR-4707-5p	PAR-CLIP	23592263
MIRT459613	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT459612	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT459611	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT459610	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT459609	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT459608	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT459606	hsa-miR-8085	PAR-CLIP	23592263
MIRT459607	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT459605	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT459603	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT459604	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT459602	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT459601	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT459600	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT459599	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT459598	hsa-miR-4651	PAR-CLIP	23592263
MIRT459597	hsa-miR-608	PAR-CLIP	23592263
MIRT459596	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT459595	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT459594	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT459593	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT459592	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT459591	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT459590	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT755484	hsa-miR-34a-3p	Western blottingqRT-PCR	35301863
MIRT1081840	hsa-miR-214	CLIP-seq
MIRT1081841	hsa-miR-3619-5p	CLIP-seq
MIRT1081842	hsa-miR-371b-3p	CLIP-seq
MIRT1081843	hsa-miR-4290	CLIP-seq
MIRT1081844	hsa-miR-4291	CLIP-seq
MIRT1081845	hsa-miR-4454	CLIP-seq
MIRT1081846	hsa-miR-4519	CLIP-seq
MIRT1081847	hsa-miR-4763-5p	CLIP-seq
MIRT1081848	hsa-miR-485-5p	CLIP-seq
MIRT1081849	hsa-miR-488	CLIP-seq
MIRT1081850	hsa-miR-761	CLIP-seq
MIRT1081851	hsa-miR-922	CLIP-seq
MIRT1550412	hsa-miR-1827	CLIP-seq
MIRT1550413	hsa-miR-1913	CLIP-seq
MIRT1550414	hsa-miR-324-3p	CLIP-seq
MIRT1550415	hsa-miR-4313	CLIP-seq
MIRT2020302	hsa-miR-1286	CLIP-seq
MIRT2020303	hsa-miR-1915	CLIP-seq
MIRT2020304	hsa-miR-202	CLIP-seq
MIRT2020305	hsa-miR-2682	CLIP-seq
MIRT2020306	hsa-miR-3127-5p	CLIP-seq
MIRT2020307	hsa-miR-3135b	CLIP-seq
MIRT2020308	hsa-miR-34a	CLIP-seq
MIRT2020309	hsa-miR-34c-5p	CLIP-seq
MIRT2020310	hsa-miR-3652	CLIP-seq
MIRT2020311	hsa-miR-3714	CLIP-seq
MIRT2020312	hsa-miR-3918	CLIP-seq
MIRT2020313	hsa-miR-4257	CLIP-seq
MIRT2020314	hsa-miR-4284	CLIP-seq
MIRT2020315	hsa-miR-4430	CLIP-seq
MIRT2020316	hsa-miR-4436a	CLIP-seq
MIRT2020317	hsa-miR-4437	CLIP-seq
MIRT2020318	hsa-miR-449a	CLIP-seq
MIRT2020319	hsa-miR-449b	CLIP-seq
MIRT2020320	hsa-miR-449c	CLIP-seq
MIRT2020321	hsa-miR-4690-5p	CLIP-seq
MIRT2020322	hsa-miR-4726-3p	CLIP-seq
MIRT2020323	hsa-miR-4747-5p	CLIP-seq
MIRT2020324	hsa-miR-769-5p	CLIP-seq
MIRT2252093	hsa-miR-129-5p	CLIP-seq
MIRT2252094	hsa-miR-1302	CLIP-seq
MIRT2252095	hsa-miR-1321	CLIP-seq
MIRT2252096	hsa-miR-1343	CLIP-seq
MIRT2252097	hsa-miR-146b-3p	CLIP-seq
MIRT1550412	hsa-miR-1827	CLIP-seq
MIRT2020305	hsa-miR-2682	CLIP-seq
MIRT2252098	hsa-miR-3122	CLIP-seq
MIRT2020306	hsa-miR-3127-5p	CLIP-seq
MIRT2020307	hsa-miR-3135b	CLIP-seq
MIRT2252099	hsa-miR-3173-5p	CLIP-seq
MIRT2252100	hsa-miR-339-5p	CLIP-seq
MIRT2020308	hsa-miR-34a	CLIP-seq
MIRT2252101	hsa-miR-34c-3p	CLIP-seq
MIRT2020309	hsa-miR-34c-5p	CLIP-seq
MIRT2020310	hsa-miR-3652	CLIP-seq
MIRT2020311	hsa-miR-3714	CLIP-seq
MIRT2252102	hsa-miR-377	CLIP-seq
MIRT2252103	hsa-miR-378g	CLIP-seq
MIRT2252104	hsa-miR-3913-5p	CLIP-seq
MIRT2020312	hsa-miR-3918	CLIP-seq
MIRT2252105	hsa-miR-4298	CLIP-seq
MIRT2020315	hsa-miR-4430	CLIP-seq
MIRT2020316	hsa-miR-4436a	CLIP-seq
MIRT2020317	hsa-miR-4437	CLIP-seq
MIRT2020318	hsa-miR-449a	CLIP-seq
MIRT2020319	hsa-miR-449b	CLIP-seq
MIRT2020320	hsa-miR-449c	CLIP-seq
MIRT2252106	hsa-miR-4661-5p	CLIP-seq
MIRT2252107	hsa-miR-4674	CLIP-seq
MIRT2252108	hsa-miR-4691-5p	CLIP-seq
MIRT2252109	hsa-miR-4700-3p	CLIP-seq
MIRT2252110	hsa-miR-4739	CLIP-seq
MIRT2020323	hsa-miR-4747-5p	CLIP-seq
MIRT2252111	hsa-miR-4756-5p	CLIP-seq
MIRT2252112	hsa-miR-615-5p	CLIP-seq
MIRT2252113	hsa-miR-874	CLIP-seq
MIRT2252114	hsa-miR-890	CLIP-seq
MIRT2389657	hsa-miR-1227	CLIP-seq
MIRT2389658	hsa-miR-1228	CLIP-seq
MIRT2020303	hsa-miR-1915	CLIP-seq
MIRT2252103	hsa-miR-378g	CLIP-seq
MIRT2020317	hsa-miR-4437	CLIP-seq
MIRT2252107	hsa-miR-4674	CLIP-seq
MIRT2252108	hsa-miR-4691-5p	CLIP-seq
MIRT2389659	hsa-miR-4715-3p	CLIP-seq
MIRT2020322	hsa-miR-4726-3p	CLIP-seq
MIRT2389660	hsa-miR-4755-3p	CLIP-seq
MIRT2389661	hsa-miR-4775	CLIP-seq
MIRT2389662	hsa-miR-590-3p	CLIP-seq
MIRT2452232	hsa-miR-1285	CLIP-seq
MIRT2452233	hsa-miR-1909	CLIP-seq
MIRT1081840	hsa-miR-214	CLIP-seq
MIRT2452234	hsa-miR-298	CLIP-seq
MIRT2452235	hsa-miR-3187-5p	CLIP-seq
MIRT1081841	hsa-miR-3619-5p	CLIP-seq
MIRT2020311	hsa-miR-3714	CLIP-seq
MIRT2452236	hsa-miR-4688	CLIP-seq
MIRT2452237	hsa-miR-486-3p	CLIP-seq
MIRT2452238	hsa-miR-612	CLIP-seq
MIRT1081850	hsa-miR-761	CLIP-seq
MIRT2555481	hsa-miR-1182	CLIP-seq
MIRT2252097	hsa-miR-146b-3p	CLIP-seq
MIRT2555482	hsa-miR-193a-5p	CLIP-seq
MIRT2020307	hsa-miR-3135b	CLIP-seq
MIRT2555483	hsa-miR-3157-3p	CLIP-seq
MIRT2252099	hsa-miR-3173-5p	CLIP-seq
MIRT2252100	hsa-miR-339-5p	CLIP-seq
MIRT2020310	hsa-miR-3652	CLIP-seq
MIRT2555484	hsa-miR-431	CLIP-seq
MIRT2020315	hsa-miR-4430	CLIP-seq
MIRT2252113	hsa-miR-874	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003029	Process	Detection of hypoxic conditions in blood by carotid body chemoreceptor signaling	IEA
GO:0003029	Process	Detection of hypoxic conditions in blood by carotid body chemoreceptor signaling	ISS
GO:0005216	Function	Monoatomic ion channel activity	IMP	12198146
GO:0005252	Function	Open rectifier potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	TAS	9312005
GO:0005272	Function	Sodium channel activity	IDA	22948150
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	23169818
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23169818
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	12198146
GO:0005886	Component	Plasma membrane	TAS	9312005
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	9312005
GO:0006814	Process	Sodium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9312005
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IBA
GO:0015271	Function	Outward rectifier potassium channel activity	IDA	26919430
GO:0015271	Function	Outward rectifier potassium channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0022841	Function	Potassium ion leak channel activity	IBA
GO:0022841	Function	Potassium ion leak channel activity	IDA	9312005
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IMP	12198146
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0044548	Function	S100 protein binding	IPI	12198146
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	23169818
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IEA
GO:0060075	Process	Regulation of resting membrane potential	IEA
GO:0071294	Process	Cellular response to zinc ion	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071468	Process	Cellular response to acidic pH	IDA	22948150
GO:0071468	Process	Cellular response to acidic pH	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0099605	Process	Regulation of action potential firing rate	IEA

MIM	HGNC	e!Ensembl
603220	6278	ENSG00000171303

O14649

Protein name

Potassium channel subfamily K member 3 (Acid-sensitive potassium channel protein TASK-1) (TWIK-related acid-sensitive K(+) channel 1) (Two pore potassium channel KT3.1) (Two pore K(+) channel KT3.1)

Protein function

K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate

PDB

6RV2 , 6RV3 , 6RV4 , 9G9X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07885	Ion_trans_2	59 → 134	Ion channel	Family
PF07885	Ion_trans_2	165 → 248	Ion channel	Family

Tissue specificity

TISSUE SPECIFICITY: Widespread expression in adult. Strongest expression in pancreas and placenta. Lower expression in brain, lung, prostate, heart, kidney, uterus, small intestine and colon.

Sequence

MKRQNVRTLALIVCTFTYLLVGAAVFDALESEPELIERQRLELRQQELRARYNLSQGGYE
ELERVVLRLKPHKAGVQWRFAGSFYFAITVITTIGYGHAAPSTDGGKVFCMFYALLGIPL
TLVMFQSLGERINTLVRYLLHRAKKGLGMRRADVSMANMVLIGFFSCISTLCIGAAAFSH
YEHWTFFQAYYYCFITLTTIGFGDYVALQKDQALQTQPQYVAFSFVYILTGLTVIGAFLN
LVVLRFMTMNAEDEKRDAEHRALLTRNGQAGGGGGGGSAHTTDTASSTAAAGGGGFRNVY
AEVLHFQSMCSCLWYKSREKLQYSIPMIIPRDLSTSDTCVEQSHSSPGGGGRYSDTPSRR
CLCSGAPRSAISSVSTGLHSLSTFRGLMKRRSSV

Sequence length

394

Interactions

View interactions

	KEGG		Reactome
	Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome		TWIK-releated acid-sensitive K+ channel (TASK) Phase 4 - resting membrane potential

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pulmonary arterial hypertension	Likely pathogenic	rs398123042	RCV001004022	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary hypertension, primary, 1	Pathogenic	rs398123039	RCV000248489	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary hypertension, primary, 4	Pathogenic; Likely pathogenic	rs2465324094, rs1085307438, rs1553387422, rs398123039, rs398123041, rs398123042, rs398123043	RCV003159084 RCV000488684 RCV000660625 RCV000054385 RCV000054387 RCV000054388 RCV000054389 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Autism spectrum disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERITABLE PULMONARY ARTERIAL HYPERTENSION	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY HYPERTENSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNK3-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTASSIUM DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	29531354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27294516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	19878209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	22178873, 24374141, 25437921, 25655935, 26729267, 29881975, 29930145, 31001961, 31514528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	39637865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28252570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	35011589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27294516, 29387193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35676660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20665672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	20529081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	29531354		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	30249228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30249228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis Extrahepatic	Cholelithiasis	Pubtator	19034961	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29710508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25171373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	14661677, 16253929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29881975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	26375812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	27653983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36195757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29717269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20529081, 29105075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	ORPHANET_DG	23883380, 24951767		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	23883380, 27453251	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	26912814, 27884767, 28661905, 30365877		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	28388887		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23883380, 28388887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial pulmonary arterial hypertension	Pulmonary arterial hypertension	ORPHANET_DG	23883380, 24951767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29881975		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	32159364	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	25159282, 28967497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heritable pulmonary arterial hypertension	Heritable Pulmonary Arterial Hypertension	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	BEFREE	19878209, 27296998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	22893713, 27296998, 27736895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22893713, 27296998, 39637865	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26820968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21164499, 24742047, 27296998, 27826710, 29109948, 29360952, 30580687, 30661725, 31121162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	28258276, 29379442, 29490297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	22391579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32045592	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	21838752, 23883380, 24267296, 24742047, 25159282, 26699722, 26912814, 27453251, 27649371, 27826710, 28301582, 28524624, 28889099, 28967497, 29122916 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	28388887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	23883380, 29122916		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	28388887		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	29531354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	10483966, 10984545, 11113008, 17470695, 9386136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome 1	Long QT Syndrome	BEFREE	9386136, 9641694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32045592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	28252570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27294516, 29387193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20529081, 23305490, 26202570, 29387193, 30818127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30249228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	31439839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30623969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27294516, 29387193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28988768, 29179200, 31475894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31436597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	11173858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	30661725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	23883380, 25171373, 26699722, 26820968, 27453251, 28388887, 29257242, 30354297, 30365877, 32159364, 35346192	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26912814, 27453251, 27649371, 28301582, 30365877, 31347976		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	28388887		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	33036472	Inhibit	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25171373, 29313708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Hypertension, Primary, 1	Pulmonary Hypertension	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Hypertension, Primary, 1	Pulmonary Hypertension	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia	Pulmonary Hypertension With Hereditary Hemorrhagic Telangiectasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PULMONARY HYPERTENSION, PRIMARY, 4	Pulmonary Hypertension	CLINVAR_DG	23883380		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY HYPERTENSION, PRIMARY, 4	Pulmonary Hypertension	UNIPROT_DG	23883380		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY HYPERTENSION, PRIMARY, 4	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	28388887		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Veno-Occlusive Disease (disorder)	Pulmonary venoocclusive disease	BEFREE	26699722		★★★★★ ★☆☆☆☆ Found in Text Mining only
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT	Pulmonary venoocclusive disease	BEFREE	26699722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	29360952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Romano-Ward Syndrome	Romano-Ward Syndrome	BEFREE	9641694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	35011589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	31436597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	36195757, 39637865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31436597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	BEFREE	16253929, 29456831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	29395134		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNK3 (potassium two pore domain channel subfamily K member 3)