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KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)

Gene

3759

Potassium inwardly rectifying channel subfamily J member 2

KCNJ2

ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3

17q24.3

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, whi

Show/Hide all(44)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894575	A>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894578	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894579	G>A,C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894580	C>A,T	Pathogenic, not-provided	Synonymous variant, missense variant, coding sequence variant
rs104894581	C>A,T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs104894582	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894583	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894584	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894585	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs141069645	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs147750704	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs199473368	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473369	G>A,C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199473371	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473373	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473377	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473380	G>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199473381	G>A,C,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199473383	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473384	G>A,C,T	Uncertain-significance, likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs199473385	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473387	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs199473389	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199473650	G>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs199473653	G>A	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs367560052	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs370111593	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs786205812	T>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs786205813	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786205817	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205818	A>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs786205820	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs797044841	GCTTTCGTCCTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs797044842	G>C	Pathogenic	Missense variant, coding sequence variant
rs864622292	CCA>TTT	Likely-pathogenic	Missense variant, coding sequence variant
rs876661184	T>G	Pathogenic	Missense variant, coding sequence variant
rs1060500053	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131691475	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555603968	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555603974	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555603994	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1567823248	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598211251	->ATTGGC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1598211614	G>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(334)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	19775284
MIRT001983	hsa-miR-1-3p	qRT-PCR	21169019
MIRT007044	hsa-miR-212-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	22880819
MIRT007044	hsa-miR-212-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	22880819
MIRT001983	hsa-miR-1-3p	Reporter assay;Other	17401374
MIRT260199	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT260200	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT288812	hsa-miR-206	PAR-CLIP	20371350
MIRT288813	hsa-miR-613	PAR-CLIP	20371350
MIRT001983	hsa-miR-1-3p	PAR-CLIP	20371350
MIRT288804	hsa-miR-3646	PAR-CLIP	20371350
MIRT288782	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT288811	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT288807	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT288801	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT288802	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT288803	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT288800	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT288815	hsa-miR-6124	PAR-CLIP	20371350
MIRT260205	hsa-miR-548aw	PAR-CLIP	20371350
MIRT567027	hsa-miR-6505-5p	PAR-CLIP	20371350
MIRT567026	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT251628	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT251626	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT251627	hsa-miR-9-5p	PAR-CLIP	21572407
MIRT251630	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT251634	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT260202	hsa-miR-586	PAR-CLIP	21572407
MIRT251632	hsa-miR-5681b	PAR-CLIP	21572407
MIRT547742	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT251633	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT001983	hsa-miR-1-3p	Western blot	28112313
MIRT260199	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT260200	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT288812	hsa-miR-206	PAR-CLIP	20371350
MIRT288813	hsa-miR-613	PAR-CLIP	20371350
MIRT001983	hsa-miR-1-3p	PAR-CLIP	20371350
MIRT288804	hsa-miR-3646	PAR-CLIP	20371350
MIRT288782	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT288811	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT288807	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT288801	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT288802	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT288803	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT288800	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT288815	hsa-miR-6124	PAR-CLIP	20371350
MIRT260205	hsa-miR-548aw	PAR-CLIP	20371350
MIRT567027	hsa-miR-6505-5p	PAR-CLIP	20371350
MIRT567026	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT251628	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT251626	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT251627	hsa-miR-9-5p	PAR-CLIP	21572407
MIRT251630	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT251634	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT260202	hsa-miR-586	PAR-CLIP	21572407
MIRT251632	hsa-miR-5681b	PAR-CLIP	21572407
MIRT547742	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT251633	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT1081490	hsa-miR-1273e	CLIP-seq
MIRT1081491	hsa-miR-1470	CLIP-seq
MIRT1081492	hsa-miR-193a-3p	CLIP-seq
MIRT1081493	hsa-miR-193b	CLIP-seq
MIRT1081494	hsa-miR-3176	CLIP-seq
MIRT1081495	hsa-miR-3192	CLIP-seq
MIRT1081496	hsa-miR-320a	CLIP-seq
MIRT1081497	hsa-miR-320b	CLIP-seq
MIRT1081498	hsa-miR-320c	CLIP-seq
MIRT1081499	hsa-miR-320d	CLIP-seq
MIRT1081500	hsa-miR-3613-3p	CLIP-seq
MIRT1081501	hsa-miR-371b-5p	CLIP-seq
MIRT1081502	hsa-miR-3922-3p	CLIP-seq
MIRT1081503	hsa-miR-4313	CLIP-seq
MIRT1081504	hsa-miR-4314	CLIP-seq
MIRT1081505	hsa-miR-4328	CLIP-seq
MIRT1081506	hsa-miR-4429	CLIP-seq
MIRT1081507	hsa-miR-4446-5p	CLIP-seq
MIRT1081508	hsa-miR-4461	CLIP-seq
MIRT1081509	hsa-miR-4469	CLIP-seq
MIRT1081510	hsa-miR-4633-5p	CLIP-seq
MIRT1081511	hsa-miR-4646-5p	CLIP-seq
MIRT1081512	hsa-miR-4667-3p	CLIP-seq
MIRT1081513	hsa-miR-4712-5p	CLIP-seq
MIRT1081514	hsa-miR-4755-5p	CLIP-seq
MIRT1081515	hsa-miR-4757-5p	CLIP-seq
MIRT1081516	hsa-miR-4773	CLIP-seq
MIRT1081517	hsa-miR-4777-5p	CLIP-seq
MIRT1081518	hsa-miR-518d-5p	CLIP-seq
MIRT1081519	hsa-miR-519b-5p	CLIP-seq
MIRT1081520	hsa-miR-519c-5p	CLIP-seq
MIRT1081521	hsa-miR-520c-5p	CLIP-seq
MIRT1081522	hsa-miR-526a	CLIP-seq
MIRT1081523	hsa-miR-548ac	CLIP-seq
MIRT1081524	hsa-miR-548ae	CLIP-seq
MIRT1081525	hsa-miR-548aj	CLIP-seq
MIRT1081526	hsa-miR-548am	CLIP-seq
MIRT1081527	hsa-miR-548d-3p	CLIP-seq
MIRT1081528	hsa-miR-548x	CLIP-seq
MIRT1081529	hsa-miR-548z	CLIP-seq
MIRT1081530	hsa-miR-578	CLIP-seq
MIRT1081531	hsa-miR-642a	CLIP-seq
MIRT1081532	hsa-miR-770-5p	CLIP-seq
MIRT1081533	hsa-miR-885-5p	CLIP-seq
MIRT1081534	hsa-miR-892b	CLIP-seq
MIRT2020189	hsa-miR-2276	CLIP-seq
MIRT2020190	hsa-miR-3130-5p	CLIP-seq
MIRT2020191	hsa-miR-3173-3p	CLIP-seq
MIRT2020192	hsa-miR-4291	CLIP-seq
MIRT2020193	hsa-miR-4428	CLIP-seq
MIRT2020194	hsa-miR-4477b	CLIP-seq
MIRT2020195	hsa-miR-4482	CLIP-seq
MIRT2020196	hsa-miR-4727-5p	CLIP-seq
MIRT2020197	hsa-miR-4769-3p	CLIP-seq
MIRT1081516	hsa-miR-4773	CLIP-seq
MIRT1081517	hsa-miR-4777-5p	CLIP-seq
MIRT2020198	hsa-miR-513c	CLIP-seq
MIRT2020199	hsa-miR-514b-5p	CLIP-seq
MIRT1081518	hsa-miR-518d-5p	CLIP-seq
MIRT1081519	hsa-miR-519b-5p	CLIP-seq
MIRT1081520	hsa-miR-519c-5p	CLIP-seq
MIRT1081521	hsa-miR-520c-5p	CLIP-seq
MIRT1081522	hsa-miR-526a	CLIP-seq
MIRT2252020	hsa-miR-1238	CLIP-seq
MIRT2252021	hsa-miR-1912	CLIP-seq
MIRT2252022	hsa-miR-19a	CLIP-seq
MIRT2252023	hsa-miR-19b	CLIP-seq
MIRT2252024	hsa-miR-3183	CLIP-seq
MIRT2252025	hsa-miR-3662	CLIP-seq
MIRT2252026	hsa-miR-3667-3p	CLIP-seq
MIRT2252027	hsa-miR-3975	CLIP-seq
MIRT2252028	hsa-miR-4311	CLIP-seq
MIRT2252029	hsa-miR-4698	CLIP-seq
MIRT2252030	hsa-miR-4723-3p	CLIP-seq
MIRT1081516	hsa-miR-4773	CLIP-seq
MIRT1081517	hsa-miR-4777-5p	CLIP-seq
MIRT2020198	hsa-miR-513c	CLIP-seq
MIRT2020199	hsa-miR-514b-5p	CLIP-seq
MIRT1081518	hsa-miR-518d-5p	CLIP-seq
MIRT1081519	hsa-miR-519b-5p	CLIP-seq
MIRT1081520	hsa-miR-519c-5p	CLIP-seq
MIRT1081521	hsa-miR-520c-5p	CLIP-seq
MIRT1081522	hsa-miR-526a	CLIP-seq
MIRT2252022	hsa-miR-19a	CLIP-seq
MIRT2252023	hsa-miR-19b	CLIP-seq
MIRT2555287	hsa-miR-1183	CLIP-seq
MIRT2555288	hsa-miR-1202	CLIP-seq
MIRT2555289	hsa-miR-122	CLIP-seq
MIRT2555290	hsa-miR-1253	CLIP-seq
MIRT2555291	hsa-miR-1276	CLIP-seq
MIRT2555292	hsa-miR-1324	CLIP-seq
MIRT2555293	hsa-miR-135a	CLIP-seq
MIRT2555294	hsa-miR-135b	CLIP-seq
MIRT2555295	hsa-miR-138	CLIP-seq
MIRT2555296	hsa-miR-1587	CLIP-seq
MIRT2555297	hsa-miR-15a	CLIP-seq
MIRT2555298	hsa-miR-15b	CLIP-seq
MIRT2555299	hsa-miR-16	CLIP-seq
MIRT2555300	hsa-miR-186	CLIP-seq
MIRT2555301	hsa-miR-18a	CLIP-seq
MIRT2555302	hsa-miR-18b	CLIP-seq
MIRT2555303	hsa-miR-195	CLIP-seq
MIRT2555304	hsa-miR-2110	CLIP-seq
MIRT2555305	hsa-miR-214	CLIP-seq
MIRT2555306	hsa-miR-219-1-3p	CLIP-seq
MIRT2555307	hsa-miR-219-5p	CLIP-seq
MIRT2555308	hsa-miR-296-3p	CLIP-seq
MIRT2555309	hsa-miR-3064-3p	CLIP-seq
MIRT2555310	hsa-miR-3117-3p	CLIP-seq
MIRT2555311	hsa-miR-3117-5p	CLIP-seq
MIRT2555312	hsa-miR-3121-3p	CLIP-seq
MIRT2020190	hsa-miR-3130-5p	CLIP-seq
MIRT2555313	hsa-miR-3150a-3p	CLIP-seq
MIRT2555314	hsa-miR-3159	CLIP-seq
MIRT2555315	hsa-miR-3169	CLIP-seq
MIRT2020191	hsa-miR-3173-3p	CLIP-seq
MIRT2555316	hsa-miR-3177-5p	CLIP-seq
MIRT2555317	hsa-miR-323-3p	CLIP-seq
MIRT2555318	hsa-miR-3612	CLIP-seq
MIRT2555319	hsa-miR-3618	CLIP-seq
MIRT2555320	hsa-miR-3619-5p	CLIP-seq
MIRT2555321	hsa-miR-3671	CLIP-seq
MIRT2555322	hsa-miR-3688-5p	CLIP-seq
MIRT2555323	hsa-miR-383	CLIP-seq
MIRT2555324	hsa-miR-3911	CLIP-seq
MIRT2555325	hsa-miR-3934	CLIP-seq
MIRT2555326	hsa-miR-3972	CLIP-seq
MIRT2555327	hsa-miR-3973	CLIP-seq
MIRT2555328	hsa-miR-424	CLIP-seq
MIRT2020192	hsa-miR-4291	CLIP-seq
MIRT2555329	hsa-miR-4299	CLIP-seq
MIRT2252028	hsa-miR-4311	CLIP-seq
MIRT2555330	hsa-miR-4417	CLIP-seq
MIRT2020193	hsa-miR-4428	CLIP-seq
MIRT2555331	hsa-miR-4443	CLIP-seq
MIRT2555332	hsa-miR-4445	CLIP-seq
MIRT2555333	hsa-miR-4450	CLIP-seq
MIRT2555334	hsa-miR-4475	CLIP-seq
MIRT2555335	hsa-miR-4477a	CLIP-seq
MIRT2020194	hsa-miR-4477b	CLIP-seq
MIRT2020195	hsa-miR-4482	CLIP-seq
MIRT2555336	hsa-miR-4490	CLIP-seq
MIRT2555337	hsa-miR-4492	CLIP-seq
MIRT2555338	hsa-miR-4494	CLIP-seq
MIRT2555339	hsa-miR-4498	CLIP-seq
MIRT2555340	hsa-miR-4499	CLIP-seq
MIRT2555341	hsa-miR-4517	CLIP-seq
MIRT2555342	hsa-miR-455-3p	CLIP-seq
MIRT2555343	hsa-miR-4642	CLIP-seq
MIRT2555344	hsa-miR-4645-3p	CLIP-seq
MIRT2555345	hsa-miR-4645-5p	CLIP-seq
MIRT2555346	hsa-miR-4656	CLIP-seq
MIRT2555347	hsa-miR-4663	CLIP-seq
MIRT2555348	hsa-miR-4673	CLIP-seq
MIRT2555349	hsa-miR-4675	CLIP-seq
MIRT2555350	hsa-miR-4681	CLIP-seq
MIRT2252029	hsa-miR-4698	CLIP-seq
MIRT2555351	hsa-miR-4725-5p	CLIP-seq
MIRT2555352	hsa-miR-4729	CLIP-seq
MIRT2555353	hsa-miR-4735-3p	CLIP-seq
MIRT2555354	hsa-miR-4736	CLIP-seq
MIRT2555355	hsa-miR-4741	CLIP-seq
MIRT2555356	hsa-miR-4742-5p	CLIP-seq
MIRT2555357	hsa-miR-4759	CLIP-seq
MIRT2555358	hsa-miR-4772-5p	CLIP-seq
MIRT2555359	hsa-miR-4782-3p	CLIP-seq
MIRT2555360	hsa-miR-4797-5p	CLIP-seq
MIRT2555361	hsa-miR-493	CLIP-seq
MIRT2555362	hsa-miR-495	CLIP-seq
MIRT2555363	hsa-miR-497	CLIP-seq
MIRT2555364	hsa-miR-504	CLIP-seq
MIRT2020198	hsa-miR-513c	CLIP-seq
MIRT2020199	hsa-miR-514b-5p	CLIP-seq
MIRT2555365	hsa-miR-541	CLIP-seq
MIRT2555366	hsa-miR-548a-5p	CLIP-seq
MIRT2555367	hsa-miR-548ab	CLIP-seq
MIRT1081523	hsa-miR-548ac	CLIP-seq
MIRT1081524	hsa-miR-548ae	CLIP-seq
MIRT1081525	hsa-miR-548aj	CLIP-seq
MIRT2555368	hsa-miR-548ak	CLIP-seq
MIRT1081526	hsa-miR-548am	CLIP-seq
MIRT2555369	hsa-miR-548b-5p	CLIP-seq
MIRT2555370	hsa-miR-548c-5p	CLIP-seq
MIRT1081527	hsa-miR-548d-3p	CLIP-seq
MIRT2555371	hsa-miR-548d-5p	CLIP-seq
MIRT2555372	hsa-miR-548h	CLIP-seq
MIRT2555373	hsa-miR-548i	CLIP-seq
MIRT2555374	hsa-miR-548j	CLIP-seq
MIRT2555375	hsa-miR-548w	CLIP-seq
MIRT1081528	hsa-miR-548x	CLIP-seq
MIRT2555376	hsa-miR-548y	CLIP-seq
MIRT1081529	hsa-miR-548z	CLIP-seq
MIRT2555377	hsa-miR-559	CLIP-seq
MIRT2555378	hsa-miR-583	CLIP-seq
MIRT2555379	hsa-miR-595	CLIP-seq
MIRT2555380	hsa-miR-606	CLIP-seq
MIRT2555381	hsa-miR-628-5p	CLIP-seq
MIRT2555382	hsa-miR-629	CLIP-seq
MIRT2555383	hsa-miR-644	CLIP-seq
MIRT2555384	hsa-miR-650	CLIP-seq
MIRT2555385	hsa-miR-654-5p	CLIP-seq
MIRT2555386	hsa-miR-760	CLIP-seq
MIRT2555387	hsa-miR-761	CLIP-seq
MIRT2555388	hsa-miR-762	CLIP-seq
MIRT2555389	hsa-miR-877	CLIP-seq
MIRT2555390	hsa-miR-922	CLIP-seq
MIRT2555391	hsa-miR-934	CLIP-seq
MIRT2555288	hsa-miR-1202	CLIP-seq
MIRT2555289	hsa-miR-122	CLIP-seq
MIRT2252020	hsa-miR-1238	CLIP-seq
MIRT2555290	hsa-miR-1253	CLIP-seq
MIRT2555291	hsa-miR-1276	CLIP-seq
MIRT2555293	hsa-miR-135a	CLIP-seq
MIRT2555294	hsa-miR-135b	CLIP-seq
MIRT2555300	hsa-miR-186	CLIP-seq
MIRT2555304	hsa-miR-2110	CLIP-seq
MIRT2555306	hsa-miR-219-1-3p	CLIP-seq
MIRT2555307	hsa-miR-219-5p	CLIP-seq
MIRT2555308	hsa-miR-296-3p	CLIP-seq
MIRT2555313	hsa-miR-3150a-3p	CLIP-seq
MIRT2683227	hsa-miR-3152-5p	CLIP-seq
MIRT2555314	hsa-miR-3159	CLIP-seq
MIRT2683228	hsa-miR-3182	CLIP-seq
MIRT2252024	hsa-miR-3183	CLIP-seq
MIRT2683229	hsa-miR-3607-3p	CLIP-seq
MIRT2252026	hsa-miR-3667-3p	CLIP-seq
MIRT2555321	hsa-miR-3671	CLIP-seq
MIRT2683230	hsa-miR-3686	CLIP-seq
MIRT2555326	hsa-miR-3972	CLIP-seq
MIRT2555327	hsa-miR-3973	CLIP-seq
MIRT2252028	hsa-miR-4311	CLIP-seq
MIRT2683231	hsa-miR-4423-5p	CLIP-seq
MIRT2555332	hsa-miR-4445	CLIP-seq
MIRT2555333	hsa-miR-4450	CLIP-seq
MIRT2555334	hsa-miR-4475	CLIP-seq
MIRT2555335	hsa-miR-4477a	CLIP-seq
MIRT2555336	hsa-miR-4490	CLIP-seq
MIRT2555341	hsa-miR-4517	CLIP-seq
MIRT2555347	hsa-miR-4663	CLIP-seq
MIRT2555350	hsa-miR-4681	CLIP-seq
MIRT2252030	hsa-miR-4723-3p	CLIP-seq
MIRT2555351	hsa-miR-4725-5p	CLIP-seq
MIRT2555352	hsa-miR-4729	CLIP-seq
MIRT2555354	hsa-miR-4736	CLIP-seq
MIRT2555359	hsa-miR-4782-3p	CLIP-seq
MIRT2555360	hsa-miR-4797-5p	CLIP-seq
MIRT2555362	hsa-miR-495	CLIP-seq
MIRT2555364	hsa-miR-504	CLIP-seq
MIRT2555366	hsa-miR-548a-5p	CLIP-seq
MIRT2555367	hsa-miR-548ab	CLIP-seq
MIRT1081523	hsa-miR-548ac	CLIP-seq
MIRT1081524	hsa-miR-548ae	CLIP-seq
MIRT1081525	hsa-miR-548aj	CLIP-seq
MIRT2555368	hsa-miR-548ak	CLIP-seq
MIRT1081526	hsa-miR-548am	CLIP-seq
MIRT2683232	hsa-miR-548b-3p	CLIP-seq
MIRT2555369	hsa-miR-548b-5p	CLIP-seq
MIRT2555370	hsa-miR-548c-5p	CLIP-seq
MIRT1081527	hsa-miR-548d-3p	CLIP-seq
MIRT2555371	hsa-miR-548d-5p	CLIP-seq
MIRT2555372	hsa-miR-548h	CLIP-seq
MIRT2555373	hsa-miR-548i	CLIP-seq
MIRT2555374	hsa-miR-548j	CLIP-seq
MIRT2555375	hsa-miR-548w	CLIP-seq
MIRT1081528	hsa-miR-548x	CLIP-seq
MIRT2555376	hsa-miR-548y	CLIP-seq
MIRT1081529	hsa-miR-548z	CLIP-seq
MIRT2555377	hsa-miR-559	CLIP-seq
MIRT2555378	hsa-miR-583	CLIP-seq
MIRT2555381	hsa-miR-628-5p	CLIP-seq
MIRT2555386	hsa-miR-760	CLIP-seq

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IBA	21873635
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	11371347, 12086641, 20921230
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	12086641
GO:0005790	Component	Smooth endoplasmic reticulum	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	7696590
GO:0006813	Process	Potassium ion transport	IDA	20921230
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	12086641
GO:0014704	Component	Intercalated disc	IEA
GO:0014861	Process	Regulation of skeletal muscle contraction via regulation of action potential	IMP	11371347
GO:0015693	Process	Magnesium ion transport	IEA
GO:0030007	Process	Cellular potassium ion homeostasis	TAS	20086079
GO:0030315	Component	T-tubule	IEA
GO:0031224	Component	Intrinsic component of membrane	IDA	20921230
GO:0034765	Process	Regulation of ion transmembrane transport	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0051289	Process	Protein homotetramerization	IDA	20921230
GO:0055119	Process	Relaxation of cardiac muscle	IMP	11371347
GO:0060075	Process	Regulation of resting membrane potential	TAS	20086079
GO:0060306	Process	Regulation of membrane repolarization	IDA	11371347
GO:0061337	Process	Cardiac conduction	TAS
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	12086641
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	11371347
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IEA
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP	11371347
GO:0086011	Process	Membrane repolarization during action potential	IMP	11371347
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	TAS	20086079
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IMP	11371347
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	TAS	20086079
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	15761194
GO:0090076	Process	Relaxation of skeletal muscle	IMP	11371347
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	11371347

MIM	HGNC	e!Ensembl
600681	6263	ENSG00000123700

Protein

UniProt ID

P63252

Protein name

Inward rectifier potassium channel 2 (Cardiac inward rectifier potassium channel) (Inward rectifier K(+) channel Kir2.1) (IRK-1) (hIRK1) (Potassium channel, inwardly rectifying subfamily J member 2)

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 (PubMed:36149965, PubMed:7590287, PubMed:9490857). Their voltage dependence is regulated by the concentrat

PDB

6SPZ , 7ZDZ , 8QQL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08466	IRK_N	1 → 47	Inward rectifier potassium channel N-terminal	Family
PF01007	IRK	48 → 186	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	193 → 366	Inward rectifier potassium channel C-terminal domain	Domain

Sequence

MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFIN
VGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGK
ACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFMVVFQSIVGCIIDAFIIGAVM
AKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG
EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEG
MVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARD
LAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTSTDTPPDIDLHNQASVPLEPRP
LRRESEI

Sequence length

427

Interactions

View interactions

	KEGG		Reactome
	Cholinergic synapse Oxytocin signaling pathway Renin secretion Gastric acid secretion		Activation of G protein gated Potassium channels Classical Kir channels Phase 4 - resting membrane potential Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Andersen tawil syndrome	Andersen-Tawil syndrome	rs104894575, rs104894578, rs104894579, rs2144376746, rs104894580, rs104894581, rs104894582, rs104894583, rs104894585, rs199473650, rs199473387, rs387906778, rs199473368, rs199473371, rs199473373, rs199473653, rs199473378, rs199473382, rs199473384, rs199473389, rs786205820, rs864622292, rs1555603968, rs1598211614
Atrial fibrillation	Atrial Fibrillation, ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder), ATRIAL FIBRILLATION, FAMILIAL, 9, Familial atrial fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	25691870, 15922306, 12163457, 15922306, 27761157, 25691870
Atrioventricular block	Atrioventricular Block	rs766840243, rs763809932
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Catecholaminergic polymorphic ventricular tachycardia	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	rs121918597, rs121918598, rs121918599, rs121918600, rs121918601, rs121918602, rs121918603, rs121918604, rs121918605, rs121434549, rs786205106, rs121434550, rs267607276, rs267607277, rs397507555, rs397507556, rs397516508, rs397516539, rs397516643, rs768049331, rs397515458, rs397515459, rs730880187, rs730880201, rs1553191909, rs139228801, rs786205791, rs786205799, rs794728706, rs794728708, rs190140598, rs794728721, rs794728740, rs794728746, rs794728753, rs794728754, rs794728756, rs794728704, rs794728777, rs794728779, rs794728782, rs794728783, rs794728785, rs771994461, rs794728786, rs794728787, rs794728803, rs794728804, rs794728810, rs794728811, rs794728832, rs763955301, rs1085307100, rs876657635, rs886037908, rs886037907, rs1057517699, rs773204795, rs1060502164, rs1060500142, rs1060500156, rs1060500150, rs1060500137, rs1060502114, rs1060502116, rs1064796516, rs1085307997, rs776874142, rs1436844070, rs1553322494, rs1553197939, rs1553343100, rs752256846, rs865784613, rs1553454821, rs1553426678, rs1415931588, rs1553263875, rs794728802, rs1553339086, rs1554258777, rs756636650, rs905985075, rs1401116572, rs1553339084, rs1553531703, rs1554251609, rs1558405887, rs1558698334, rs1558393802, rs1558405816, rs397516510, rs1558481148, rs1558424746, rs1558103974, rs1558381851, rs1558405653, rs1468290898, rs1573911397, rs1471576368, rs375598471, rs1342435908, rs1573300872, rs1209752961, rs1573887621, rs1226397753, rs1573911593, rs1573935244, rs765238394, rs1185619003, rs1573997412, rs775663612, rs958406908, rs754834466, rs749547712, rs1682400034, rs1658967336, rs545032318, rs1695315646, rs1663792524	27761157
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis, Type 2	rs80338957, rs121908544, rs121908548, rs80338784, rs80338788, rs80338785, rs121908555, rs121908557, rs28930068, rs28930069, rs80338777, rs267606698, rs80338778, rs80338789, rs527236148, rs527236150, rs367983954, rs1558056376, rs148317787, rs1287079817, rs1572049461, rs1572023336, rs1287863349	16217063
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Oligodontia	Oligodontia	rs1591901585
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Short qt syndrome	Familial short QT syndrome, Short QT Syndrome 1, Short QT Syndrome 3	rs121912617, rs104894584, rs121912504, rs121912507, rs104894021, rs199472720, rs199472687, rs199472837, rs199473490, rs199473428, rs199473524, rs199472947, rs199472851, rs786205817, rs876661184, rs1057519584, rs1591838266	15761194, 16217063, 23595086, 23644778, 21493816, 17582433, 18452873, 22589293, 15761194, 22002906, 17119796, 14522976, 23867365, 25415519, 12148092, 25691870, 22806368, 16818210, 17341397, 12163457, 17221872, 12086641, 17211524, 20382953, 24861851, 17568571, 15911703, 11371347, 27761157, 28003625, 12909315, 12796536
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598
Ventricular tachycardia	Tachycardia, Ventricular	rs137853228, rs397517025, rs199473373, rs727504432, rs1450434935, rs1592847299	17546530

Show/Hide Unknown Diseases (15)

Unknown
Disease name	Disease term	dbSNP ID	References
Andersen syndrome	Andersen Syndrome		17568571, 17582433, 17341397, 27761157, 12796536, 15911703, 14522976, 16818210, 17211524, 12909315, 17399643, 19931173, 21493816, 17074643, 20382953, 17324964, 12148092, 17119796, 16571646, 22589293, 23867365, 16217063, 28003625, 17221872, 18452873, 17074642, 12086641, 25691870, 11371347, 24861851, 12163457, 22002906, 23644778, 25415519, 24047492, 23595086, 22806368
Arsenic encephalopathy	Arsenic Encephalopathy		16835338
Blepharophimosis	Blepharophimosis
Camptodactyly of fingers	Clinodactyly of the 5th finger
Dental enamel hypoplasia	Dental Enamel Hypoplasia
Dermatologic disorders	Dermatologic disorders		16835338
High palate	Byzanthine arch palate
Hypodontia	Hypodontia
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Mental depression	Depressive disorder	rs587778876, rs587778877
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	rs199865688, rs397515994, rs757096307
Periodic hypokalemic paresis	Periodic hypokalemic paresis
Periodic paralysis	Familial Periodic Paralysis, periodic paralysis (finding)		16217063
Supraventricular tachycardia	Supraventricular tachycardia
Syndactyly of the toes	Syndactyly of the toes

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