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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3786
Gene name	Potassium voltage-gated channel subfamily Q member 3
Gene symbol	KCNQ3
Synonyms (NCBI Gene)	BFNC2EBN2KV7.3
Chromosome	8
Chromosome location	8q24.22
Summary	This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel cur

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SNP ID	Visualize variation	Clinical significance	Consequence
rs118192247	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192248	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192249	A>G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192250	C>A	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192251	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192252	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs118192254	T>C	Likely-benign, benign, pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143683496	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147173555	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs150821246	C>T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs181746838	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185511111	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs185628977	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201328910	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs750375617	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs754896169	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs762289015	T>-,TT	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs763446963	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs796052675	G>A,T	Likely-benign, pathogenic	Synonymous variant, 5 prime UTR variant, stop gained, coding sequence variant
rs796052676	G>A	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs796052677	T>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs796052678	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs796052680	C>A,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs977989588	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1064794632	C>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1064795142	C>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1085307996	C>A	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1381851622	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1554626549	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1554627025	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1554627439	A>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1586800133	A>G	Pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant

291

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miRTarBase ID	miRNA	Experiments	Reference
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT623498	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625644	hsa-miR-4760-3p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625643	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT625642	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT625636	hsa-miR-192-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT623498	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	27418678
MIRT623496	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT623498	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625644	hsa-miR-4760-3p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625643	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT625642	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT625636	hsa-miR-192-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT623498	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1082225	hsa-miR-1228	CLIP-seq
MIRT1082226	hsa-miR-1262	CLIP-seq
MIRT1082227	hsa-miR-1273g	CLIP-seq
MIRT1082228	hsa-miR-1285	CLIP-seq
MIRT1082229	hsa-miR-129-5p	CLIP-seq
MIRT1082230	hsa-miR-1323	CLIP-seq
MIRT1082231	hsa-miR-135a	CLIP-seq
MIRT1082232	hsa-miR-135b	CLIP-seq
MIRT1082233	hsa-miR-136	CLIP-seq
MIRT1082234	hsa-miR-1827	CLIP-seq
MIRT1082235	hsa-miR-185	CLIP-seq
MIRT1082236	hsa-miR-193a-3p	CLIP-seq
MIRT1082237	hsa-miR-193b	CLIP-seq
MIRT1082238	hsa-miR-199a-3p	CLIP-seq
MIRT1082239	hsa-miR-199b-3p	CLIP-seq
MIRT1082240	hsa-miR-2116	CLIP-seq
MIRT1082241	hsa-miR-218	CLIP-seq
MIRT1082242	hsa-miR-23a	CLIP-seq
MIRT1082243	hsa-miR-23b	CLIP-seq
MIRT1082244	hsa-miR-23c	CLIP-seq
MIRT1082245	hsa-miR-2682	CLIP-seq
MIRT1082246	hsa-miR-3115	CLIP-seq
MIRT1082247	hsa-miR-3119	CLIP-seq
MIRT1082248	hsa-miR-3123	CLIP-seq
MIRT1082249	hsa-miR-3129-5p	CLIP-seq
MIRT1082250	hsa-miR-3140-3p	CLIP-seq
MIRT1082251	hsa-miR-3148	CLIP-seq
MIRT1082252	hsa-miR-3154	CLIP-seq
MIRT1082253	hsa-miR-3160-3p	CLIP-seq
MIRT1082254	hsa-miR-3175	CLIP-seq
MIRT1082255	hsa-miR-3179	CLIP-seq
MIRT1082256	hsa-miR-3184	CLIP-seq
MIRT1082257	hsa-miR-3185	CLIP-seq
MIRT1082258	hsa-miR-3187-3p	CLIP-seq
MIRT1082259	hsa-miR-3187-5p	CLIP-seq
MIRT1082260	hsa-miR-3200-5p	CLIP-seq
MIRT1082261	hsa-miR-323b-5p	CLIP-seq
MIRT1082262	hsa-miR-3646	CLIP-seq
MIRT1082263	hsa-miR-3675-5p	CLIP-seq
MIRT1082264	hsa-miR-3714	CLIP-seq
MIRT1082265	hsa-miR-378g	CLIP-seq
MIRT1082266	hsa-miR-3945	CLIP-seq
MIRT1082267	hsa-miR-3974	CLIP-seq
MIRT1082268	hsa-miR-3978	CLIP-seq
MIRT1082269	hsa-miR-409-3p	CLIP-seq
MIRT1082270	hsa-miR-423-5p	CLIP-seq
MIRT1082271	hsa-miR-4253	CLIP-seq
MIRT1082272	hsa-miR-4257	CLIP-seq
MIRT1082273	hsa-miR-4261	CLIP-seq
MIRT1082274	hsa-miR-4270	CLIP-seq
MIRT1082275	hsa-miR-4273	CLIP-seq
MIRT1082276	hsa-miR-4282	CLIP-seq
MIRT1082277	hsa-miR-4283	CLIP-seq
MIRT1082278	hsa-miR-4289	CLIP-seq
MIRT1082279	hsa-miR-4306	CLIP-seq
MIRT1082280	hsa-miR-4307	CLIP-seq
MIRT1082281	hsa-miR-4314	CLIP-seq
MIRT1082282	hsa-miR-4323	CLIP-seq
MIRT1082283	hsa-miR-433	CLIP-seq
MIRT1082284	hsa-miR-4441	CLIP-seq
MIRT1082285	hsa-miR-4445	CLIP-seq
MIRT1082286	hsa-miR-4487	CLIP-seq
MIRT1082287	hsa-miR-4489	CLIP-seq
MIRT1082288	hsa-miR-4496	CLIP-seq
MIRT1082289	hsa-miR-449c	CLIP-seq
MIRT1082290	hsa-miR-4528	CLIP-seq
MIRT1082291	hsa-miR-4529-5p	CLIP-seq
MIRT1082292	hsa-miR-4644	CLIP-seq
MIRT1082293	hsa-miR-4649-3p	CLIP-seq
MIRT1082294	hsa-miR-4668-3p	CLIP-seq
MIRT1082295	hsa-miR-4677-5p	CLIP-seq
MIRT1082296	hsa-miR-4687-5p	CLIP-seq
MIRT1082297	hsa-miR-4701-3p	CLIP-seq
MIRT1082298	hsa-miR-4708-3p	CLIP-seq
MIRT1082299	hsa-miR-4710	CLIP-seq
MIRT1082300	hsa-miR-4716-3p	CLIP-seq
MIRT1082301	hsa-miR-4720-3p	CLIP-seq
MIRT1082302	hsa-miR-4723-5p	CLIP-seq
MIRT1082303	hsa-miR-4729	CLIP-seq
MIRT1082304	hsa-miR-4738-3p	CLIP-seq
MIRT1082305	hsa-miR-4769-3p	CLIP-seq
MIRT1082306	hsa-miR-4772-5p	CLIP-seq
MIRT1082307	hsa-miR-4797-3p	CLIP-seq
MIRT1082308	hsa-miR-4799-5p	CLIP-seq
MIRT1082309	hsa-miR-4804-3p	CLIP-seq
MIRT1082310	hsa-miR-513a-3p	CLIP-seq
MIRT1082311	hsa-miR-548g	CLIP-seq
MIRT1082312	hsa-miR-548l	CLIP-seq
MIRT1082313	hsa-miR-548n	CLIP-seq
MIRT1082314	hsa-miR-548o	CLIP-seq
MIRT1082315	hsa-miR-552	CLIP-seq
MIRT1082316	hsa-miR-556-5p	CLIP-seq
MIRT1082317	hsa-miR-558	CLIP-seq
MIRT1082318	hsa-miR-612	CLIP-seq
MIRT1082319	hsa-miR-617	CLIP-seq
MIRT1082320	hsa-miR-624	CLIP-seq
MIRT1082321	hsa-miR-636	CLIP-seq
MIRT1082322	hsa-miR-664	CLIP-seq
MIRT1082323	hsa-miR-665	CLIP-seq
MIRT1082324	hsa-miR-876-3p	CLIP-seq
MIRT1082325	hsa-miR-885-5p	CLIP-seq
MIRT1082326	hsa-miR-889	CLIP-seq
MIRT1082327	hsa-miR-892b	CLIP-seq
MIRT1082328	hsa-miR-936	CLIP-seq
MIRT1082329	hsa-miR-940	CLIP-seq
MIRT1550416	hsa-miR-515-3p	CLIP-seq
MIRT1550417	hsa-miR-519e	CLIP-seq
MIRT2020499	hsa-miR-200b	CLIP-seq
MIRT2020500	hsa-miR-200c	CLIP-seq
MIRT2020501	hsa-miR-429	CLIP-seq
MIRT2020502	hsa-miR-4753-3p	CLIP-seq
MIRT1082225	hsa-miR-1228	CLIP-seq
MIRT1082231	hsa-miR-135a	CLIP-seq
MIRT1082232	hsa-miR-135b	CLIP-seq
MIRT1082241	hsa-miR-218	CLIP-seq
MIRT2020503	hsa-miR-3145-3p	CLIP-seq
MIRT1082301	hsa-miR-4720-3p	CLIP-seq
MIRT1082309	hsa-miR-4804-3p	CLIP-seq
MIRT1082321	hsa-miR-636	CLIP-seq
MIRT1082326	hsa-miR-889	CLIP-seq
MIRT2252202	hsa-miR-1184	CLIP-seq
MIRT2252203	hsa-miR-1205	CLIP-seq
MIRT2252204	hsa-miR-1233	CLIP-seq
MIRT1082228	hsa-miR-1285	CLIP-seq
MIRT1082233	hsa-miR-136	CLIP-seq
MIRT2252205	hsa-miR-298	CLIP-seq
MIRT1082246	hsa-miR-3115	CLIP-seq
MIRT1082250	hsa-miR-3140-3p	CLIP-seq
MIRT1082252	hsa-miR-3154	CLIP-seq
MIRT2252206	hsa-miR-3158-5p	CLIP-seq
MIRT2252207	hsa-miR-3180-5p	CLIP-seq
MIRT1082257	hsa-miR-3185	CLIP-seq
MIRT1082259	hsa-miR-3187-5p	CLIP-seq
MIRT1082263	hsa-miR-3675-5p	CLIP-seq
MIRT1082265	hsa-miR-378g	CLIP-seq
MIRT2252208	hsa-miR-3919	CLIP-seq
MIRT2252209	hsa-miR-3921	CLIP-seq
MIRT2252210	hsa-miR-3942-3p	CLIP-seq
MIRT1082267	hsa-miR-3974	CLIP-seq
MIRT1082274	hsa-miR-4270	CLIP-seq
MIRT1082277	hsa-miR-4283	CLIP-seq
MIRT2252211	hsa-miR-4303	CLIP-seq
MIRT1082281	hsa-miR-4314	CLIP-seq
MIRT2252212	hsa-miR-4328	CLIP-seq
MIRT2252213	hsa-miR-4437	CLIP-seq
MIRT1082284	hsa-miR-4441	CLIP-seq
MIRT2252214	hsa-miR-4457	CLIP-seq
MIRT2252215	hsa-miR-4481	CLIP-seq
MIRT2252216	hsa-miR-4486	CLIP-seq
MIRT1082287	hsa-miR-4489	CLIP-seq
MIRT2252217	hsa-miR-4530	CLIP-seq
MIRT2252218	hsa-miR-4653-5p	CLIP-seq
MIRT2252219	hsa-miR-4674	CLIP-seq
MIRT2252220	hsa-miR-4693-3p	CLIP-seq
MIRT1082303	hsa-miR-4729	CLIP-seq
MIRT2252221	hsa-miR-4745-5p	CLIP-seq
MIRT2020502	hsa-miR-4753-3p	CLIP-seq
MIRT2252222	hsa-miR-4768-5p	CLIP-seq
MIRT2252223	hsa-miR-513b	CLIP-seq
MIRT2252224	hsa-miR-520a-5p	CLIP-seq
MIRT2252225	hsa-miR-525-5p	CLIP-seq
MIRT2252226	hsa-miR-526b	CLIP-seq
MIRT2252227	hsa-miR-544	CLIP-seq
MIRT2252228	hsa-miR-587	CLIP-seq
MIRT1082318	hsa-miR-612	CLIP-seq
MIRT1082320	hsa-miR-624	CLIP-seq
MIRT2252207	hsa-miR-3180-5p	CLIP-seq
MIRT2389679	hsa-miR-346	CLIP-seq
MIRT2389680	hsa-miR-4288	CLIP-seq
MIRT2389681	hsa-miR-4318	CLIP-seq
MIRT2389682	hsa-miR-4474-3p	CLIP-seq
MIRT2389683	hsa-miR-4693-5p	CLIP-seq
MIRT2389684	hsa-miR-4727-5p	CLIP-seq
MIRT1082305	hsa-miR-4769-3p	CLIP-seq
MIRT2252226	hsa-miR-526b	CLIP-seq
MIRT2389685	hsa-miR-632	CLIP-seq
MIRT2389686	hsa-miR-654-3p	CLIP-seq
MIRT2389687	hsa-miR-760	CLIP-seq
MIRT2389688	hsa-miR-892a	CLIP-seq
MIRT1082229	hsa-miR-129-5p	CLIP-seq
MIRT2555538	hsa-miR-2110	CLIP-seq
MIRT2555539	hsa-miR-3125	CLIP-seq
MIRT2555540	hsa-miR-3150a-3p	CLIP-seq
MIRT2555541	hsa-miR-3916	CLIP-seq
MIRT2555542	hsa-miR-3928	CLIP-seq
MIRT2555543	hsa-miR-4260	CLIP-seq
MIRT2555544	hsa-miR-4271	CLIP-seq
MIRT2555545	hsa-miR-4428	CLIP-seq
MIRT2555546	hsa-miR-4645-5p	CLIP-seq
MIRT2555547	hsa-miR-4673	CLIP-seq
MIRT2555548	hsa-miR-4725-3p	CLIP-seq
MIRT2555539	hsa-miR-3125	CLIP-seq
MIRT2555541	hsa-miR-3916	CLIP-seq
MIRT2555542	hsa-miR-3928	CLIP-seq
MIRT2555546	hsa-miR-4645-5p	CLIP-seq
MIRT2555547	hsa-miR-4673	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
REST	Repression	20926649
SP1	Activation	20926649

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005244	Function	Voltage-gated monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IBA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	11159685, 27564677, 28793216
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	27564677
GO:0005516	Function	Calmodulin binding	IDA	27564677
GO:0005516	Function	Calmodulin binding	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005886	Component	Plasma membrane	IDA	10788442, 11159685
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	16525039
GO:0005886	Component	Plasma membrane	TAS
GO:0006605	Process	Protein targeting	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9425900
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11159685, 27564677, 28793216
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016322	Process	Neuron remodeling	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0021675	Process	Nerve development	IEA
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IDA	28793216
GO:0030182	Process	Neuron differentiation	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS	16525039
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0036343	Process	Psychomotor behavior	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043194	Component	Axon initial segment	ISS	16525039
GO:0045202	Component	Synapse	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051882	Process	Mitochondrial depolarization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	11159685, 27564677
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0097314	Process	Apoptosome assembly	IEA
GO:0098976	Process	Excitatory chemical synaptic transmission	IEA
GO:0098977	Process	Inhibitory chemical synaptic transmission	IEA
GO:0099610	Process	Action potential initiation	IEA
GO:0099611	Process	Regulation of action potential firing threshold	IEA
GO:1903701	Process	Substantia propria of cornea development	IEA

MIM	HGNC	e!Ensembl
602232	6297	ENSG00000184156

O43525

Protein name

Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)

Protein function

Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability (PubMed:16319223, PubMed:27564677, PubMed:28793216, PubMed:9872318). M-channel is composed of po

PDB

5J03

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	121 → 363	Ion transport protein	Family
PF03520	KCNQ_channel	446 → 650	KCNQ voltage-gated potassium channel	Family
PF11956	KCNQC3-Ank-G_bd	770 → 866	Ankyrin-G binding motif of KCNQ2-3	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in brain.

Sequence

MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAG
ADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRG
WALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGC
CCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRM
DRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEF
ETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQ
EQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAAS
SQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKA
YAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRP
YDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPR
NEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPT
KGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNL
PRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRR
SITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDT
DTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI

Sequence length

872

Interactions

View interactions

	KEGG		Reactome
	Cholinergic synapse		Voltage gated Potassium channels

1540

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Benign neonatal seizures	Likely pathogenic; Pathogenic	rs2130121106, rs118192250, rs1162306056, rs2130128566, rs1282879239, rs2130944386, rs762289015, rs796052678, rs796052676, rs2536943945, rs2536952593, rs2537398144, rs1448580874, rs2536875506, rs2536952207 View all (12 more)	RCV001378943 RCV001378393 RCV001869626 RCV001966051 RCV001867178 RCV002007389 RCV002000206 RCV001852468 RCV001042557 RCV002838210 RCV003044809 RCV003586711 RCV003586869 RCV003587134 RCV003587818 RCV003750126 RCV000462450 RCV001059339 RCV000647885 RCV000685942 RCV000813464 RCV000818357 RCV001043722 RCV001041672 RCV001056634 RCV001044522 RCV001058007 RCV001203500
Intellectual disability	Likely pathogenic; Pathogenic	rs796052676	RCV001257743 RCV001257730
KCNQ3-related Autism and developmental disability	Likely pathogenic; Pathogenic	rs796052676	RCV004799197
KCNQ3-related developmental disability	Likely pathogenic; Pathogenic	rs796052676	RCV002273976
KCNQ3-related disorder	Likely pathogenic; Pathogenic	rs1586800133, rs1162306056	RCV003413649 RCV003413871
Lennox-Gastaut syndrome	Likely pathogenic; Pathogenic	rs796052676	RCV001249311
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs796052676	RCV004786513
See cases	Likely pathogenic; Pathogenic	rs749205120	RCV004584388
Seizure	Pathogenic; Likely pathogenic	rs777833596, rs2536943817, rs749205120	RCV002276343 RCV004579657 RCV005624404
Seizures, benign familial infantile, 5	Likely pathogenic; Pathogenic	rs796052676	RCV000824975
Seizures, benign familial neonatal, 2	Likely pathogenic; Pathogenic	rs2130121430, rs1162306056, rs2130134022, rs796052676, rs118192250, rs1295477856, rs118192249, rs118192251, rs1064794632, rs749205120, rs1554626549, rs1554627439, rs1459374430, rs1586800133, rs1204519015, rs1822523749 View all (1 more)	RCV001771817 RCV001814621 RCV001814623 RCV000210407 RCV000007816 RCV003326111 RCV000020601 RCV000020602 RCV001814160 RCV001004714 RCV001814169 RCV000585872 RCV003389832 RCV000853346 RCV001814261 RCV001291726 RCV001293850
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1554626549	RCV000656019
Severe intellectual disability	Likely pathogenic; Pathogenic	rs796052676	RCV003223394
Severe neurodevelopmental delay	Likely pathogenic; Pathogenic	rs796052676	RCV000824686

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Uncertain significance	rs2536875499	RCV003128070
Benign Neonatal Epilepsy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs114095081, rs554833870, rs145204452, rs886062660, rs2436127, rs2469630, rs763946605, rs746747886, rs886062666, rs112550767, rs16904601, rs886062671, rs61190986, rs886062674, rs763323782 View all (72 more)	RCV000319682 RCV000378150 RCV000402698 RCV000282719 RCV000352720 RCV000354805 RCV000404866 RCV000277922 RCV000322050 RCV000389474 RCV000309221 RCV000311151 RCV000313726 RCV000320529 RCV000365103 RCV000280663 RCV000263407 RCV000268621 RCV000383690 RCV000295405 RCV000301583 RCV000318804 RCV000344181 RCV000315403 RCV000406790 RCV000279416 RCV000298526 RCV000404383 RCV000301653 RCV000291742 RCV000298041 RCV000328695 RCV000309873 RCV000269907 RCV000276608 RCV000282836 RCV000343865 RCV000265508 RCV000405404 RCV000382476 RCV000300904 RCV000377033 RCV000367865 RCV000288756 RCV000301153 RCV000405900 RCV000393226 RCV000323462 RCV000313012 RCV000290604 RCV000264257 RCV000275129 RCV000323026 RCV000406854 RCV000282389 RCV000368277 RCV000403127 RCV000402789 RCV000301736 RCV000275605 RCV000308231 RCV000339629 RCV000340577 RCV000405603 RCV000344098 RCV000282445 RCV000371607 RCV000403800 RCV000351841 RCV000262494 RCV000358650 RCV000293171 RCV000402489 RCV000364033 RCV000269051 RCV000275950 RCV000379809 RCV000349204 RCV000371620 RCV000406886 RCV000407010 RCV000406582 RCV000345838 RCV000345087 RCV000364676 RCV000262888 RCV000371203 RCV000307788 RCV000310875 RCV000377454 RCV000285110 RCV000326256 RCV000384756 RCV000327599
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs10095295, rs377479583	RCV005899308 RCV005898034
Cholangiocarcinoma	Benign	rs28606540	RCV005899315
Developmental disorder	Likely benign	rs2130922540	RCV001843729
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Conflicting classifications of pathogenicity	rs1825159081	RCV002508955
Early Infantile Epileptic Encephalopathy, Autosomal Recessive	Conflicting classifications of pathogenicity	rs1825159081	RCV002508955
KCNQ3-associated disorder	Conflicting classifications of pathogenicity	rs2537398102	RCV005622269
Lymphoma	Benign	rs28606540	RCV005899312
Malignant tumor of esophagus	Benign	rs28606540	RCV005899310
Melanoma	Uncertain significance	rs769248820	RCV005913530
Nonpapillary renal cell carcinoma	Benign	rs28606540	RCV005899311
Ovarian serous cystadenocarcinoma	Benign	rs28606540	RCV005899313
Prostate cancer	Uncertain significance	rs193920887	RCV000149105
Thyroid cancer, nonmedullary, 1	Benign	rs28606540	RCV005899314
Uterine corpus endometrial carcinoma	Benign	rs10095295	RCV005899309

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	37648039
Amyotrophic Lateral Sclerosis	Associate	34107252
Autism Spectrum Disorder	Associate	31177578
Autistic Disorder	Associate	31177578
Bipolar Disorder	Associate	21176025
Brain Diseases	Associate	29852413, 31177578, 33784504
Carpal Tunnel Syndrome	Associate	9579905
Convulsions benign familial neonatal dominant form	Associate	25052858, 25524373, 29852413, 33784504
Developmental Disabilities	Associate	29852413, 31177578, 31238879, 33004838, 33799276
Diabetic Neuropathies	Associate	36430572
Early Onset Glaucoma	Associate	40180227
Ependymoma	Associate	34474328
Epilepsies Myoclonic	Associate	22612257
Epilepsy	Associate	10441581, 10781098, 25524373, 31177578, 33799276, 34153113, 36849527, 37429183, 40180227
Epilepsy Benign Neonatal	Associate	10781098, 20384724, 33784504
Epileptic Encephalopathy Early Infantile 3	Associate	35377796
Epileptic Syndromes	Associate	10781098, 25524373
Fabry Disease	Associate	40233852
Hypokalemic Periodic Paralysis	Associate	21891927
Intellectual Disability	Associate	25524373, 33799276
Learning Disabilities	Associate	31177578
Lymphatic Metastasis	Associate	37648039
Mental Retardation X Linked Syndromic Christianson Type	Associate	34653234
Mood Disorders	Inhibit	32120974
Neoplasm Metastasis	Inhibit	37648039
Neurologic Manifestations	Associate	25524373
Pain	Associate	35806193
Peripheral Nervous System Diseases	Associate	35806193
Pulmonary Arterial Hypertension	Associate	34349187
Seizures	Associate	25524373, 31177578, 37429183
Small Fiber Neuropathy	Associate	36430572
Vision Disorders	Associate	26350515

KCNQ3 (potassium voltage-gated channel subfamily Q member 3)