KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)

Gene

• Entrez ID: 3778
• Gene name: Potassium calcium-activated channel subfamily M alpha 1
• Gene symbol: KCNMA1
• Synonyms (NCBI Gene): BKTM, CADEDS, IEG16, KCa1.1, LIWAS, MaxiK, PNKD3, SAKCA, SLO, SLO-ALPHA, SLO1, bA205K10.1, hSlo, mSLO1
• Chromosome: 10
• Chromosome location: 10q22.3
• Summary: MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2229008	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs45617636	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs61736948	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant, 5 prime UTR variant, genic upstream transcript variant
rs77602559	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs137853333	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs139309224	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs147378590	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs149647577	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200474297	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs368568833	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs748427000	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs760628050	CGCCGCCGC>-,CGC,CGCCGC,CGCCGCCGCCGC,CGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant, inframe insertion, genic upstream transcript variant
rs762705295	A>-,AA	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs780558929	->TGC	Conflicting-interpretations-of-pathogenicity	Inframe insertion, coding sequence variant, genic upstream transcript variant
rs863224885	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1328294721	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1407652513	G>A,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs1554829003	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1554841751	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1603639319	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005943	hsa-miR-211-5p	Microarray, LacZ reporter assay	21072171
MIRT005943	hsa-miR-211-5p	Microarray, LacZ reporter assay	21072171
MIRT440404	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440404	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT755615	hsa-miR-9-5p	Immunohistochemistry (IHC)	38502673
MIRT1081995	hsa-miR-1197	CLIP-seq
MIRT1081996	hsa-miR-1224-5p	CLIP-seq
MIRT1081997	hsa-miR-1253	CLIP-seq
MIRT1081998	hsa-miR-1257	CLIP-seq
MIRT1081999	hsa-miR-1343	CLIP-seq
MIRT1082000	hsa-miR-147	CLIP-seq
MIRT1082001	hsa-miR-15a	CLIP-seq
MIRT1082002	hsa-miR-15b	CLIP-seq
MIRT1082003	hsa-miR-16	CLIP-seq
MIRT1082004	hsa-miR-195	CLIP-seq
MIRT1082005	hsa-miR-1976	CLIP-seq
MIRT1082006	hsa-miR-205	CLIP-seq
MIRT1082007	hsa-miR-2682	CLIP-seq
MIRT1082008	hsa-miR-3119	CLIP-seq
MIRT1082009	hsa-miR-3150b-3p	CLIP-seq
MIRT1082010	hsa-miR-3192	CLIP-seq
MIRT1082011	hsa-miR-3611	CLIP-seq
MIRT1082012	hsa-miR-3646	CLIP-seq
MIRT1082013	hsa-miR-3663-5p	CLIP-seq
MIRT1082014	hsa-miR-3667-3p	CLIP-seq
MIRT1082015	hsa-miR-3672	CLIP-seq
MIRT1082016	hsa-miR-3919	CLIP-seq
MIRT1082017	hsa-miR-3921	CLIP-seq
MIRT1082018	hsa-miR-424	CLIP-seq
MIRT1082019	hsa-miR-4251	CLIP-seq
MIRT1082020	hsa-miR-433	CLIP-seq
MIRT1082021	hsa-miR-4421	CLIP-seq
MIRT1082022	hsa-miR-4428	CLIP-seq
MIRT1082023	hsa-miR-4434	CLIP-seq
MIRT1082024	hsa-miR-4481	CLIP-seq
MIRT1082025	hsa-miR-4494	CLIP-seq
MIRT1082026	hsa-miR-449c	CLIP-seq
MIRT1082027	hsa-miR-4516	CLIP-seq
MIRT1082028	hsa-miR-4534	CLIP-seq
MIRT1082029	hsa-miR-4653-5p	CLIP-seq
MIRT1082030	hsa-miR-4662a-5p	CLIP-seq
MIRT1082031	hsa-miR-4682	CLIP-seq
MIRT1082032	hsa-miR-4714-5p	CLIP-seq
MIRT1082033	hsa-miR-4738-3p	CLIP-seq
MIRT1082034	hsa-miR-4745-5p	CLIP-seq
MIRT1082035	hsa-miR-4751	CLIP-seq
MIRT1082036	hsa-miR-4756-3p	CLIP-seq
MIRT1082037	hsa-miR-4758-5p	CLIP-seq
MIRT1082038	hsa-miR-4784	CLIP-seq
MIRT1082039	hsa-miR-4797-3p	CLIP-seq
MIRT1082040	hsa-miR-4802-5p	CLIP-seq
MIRT1082041	hsa-miR-497	CLIP-seq
MIRT1082042	hsa-miR-505	CLIP-seq
MIRT1082043	hsa-miR-543	CLIP-seq
MIRT1082044	hsa-miR-548a-3p	CLIP-seq
MIRT1082045	hsa-miR-548ac	CLIP-seq
MIRT1082046	hsa-miR-548ae	CLIP-seq
MIRT1082047	hsa-miR-548aj	CLIP-seq
MIRT1082048	hsa-miR-548am	CLIP-seq
MIRT1082049	hsa-miR-548d-3p	CLIP-seq
MIRT1082050	hsa-miR-548e	CLIP-seq
MIRT1082051	hsa-miR-548f	CLIP-seq
MIRT1082052	hsa-miR-548x	CLIP-seq
MIRT1082053	hsa-miR-548z	CLIP-seq
MIRT1082054	hsa-miR-562	CLIP-seq
MIRT1082055	hsa-miR-599	CLIP-seq
MIRT1082056	hsa-miR-646	CLIP-seq
MIRT1082057	hsa-miR-758	CLIP-seq
MIRT1082058	hsa-miR-759	CLIP-seq
MIRT1082059	hsa-miR-765	CLIP-seq
MIRT1082060	hsa-miR-767-3p	CLIP-seq
MIRT1082061	hsa-miR-940	CLIP-seq
MIRT1082062	hsa-miR-1267	CLIP-seq
MIRT1082063	hsa-miR-1279	CLIP-seq
MIRT1082064	hsa-miR-3074-5p	CLIP-seq
MIRT1082065	hsa-miR-3663-3p	CLIP-seq
MIRT1082066	hsa-miR-548g	CLIP-seq
MIRT1082067	hsa-miR-582-3p	CLIP-seq
MIRT1082068	hsa-miR-3173-3p	CLIP-seq
MIRT1082022	hsa-miR-4428	CLIP-seq
MIRT1082069	hsa-miR-4803	CLIP-seq
MIRT1082070	hsa-miR-1915	CLIP-seq
MIRT1082007	hsa-miR-2682	CLIP-seq
MIRT1082071	hsa-miR-3714	CLIP-seq
MIRT1082072	hsa-miR-4476	CLIP-seq
MIRT1082073	hsa-miR-4495	CLIP-seq
MIRT1082026	hsa-miR-449c	CLIP-seq
MIRT1082074	hsa-miR-4726-3p	CLIP-seq
MIRT1082075	hsa-miR-548n	CLIP-seq
MIRT1082076	hsa-miR-548t	CLIP-seq
MIRT1556593	hsa-miR-4633-3p	CLIP-seq
MIRT2020385	hsa-miR-1236	CLIP-seq
MIRT1082063	hsa-miR-1279	CLIP-seq
MIRT1082000	hsa-miR-147	CLIP-seq
MIRT1082001	hsa-miR-15a	CLIP-seq
MIRT1082002	hsa-miR-15b	CLIP-seq
MIRT1082003	hsa-miR-16	CLIP-seq
MIRT2020386	hsa-miR-181a	CLIP-seq
MIRT2020387	hsa-miR-181b	CLIP-seq
MIRT2020388	hsa-miR-181c	CLIP-seq
MIRT2020389	hsa-miR-181d	CLIP-seq
MIRT1082004	hsa-miR-195	CLIP-seq
MIRT2020390	hsa-miR-224	CLIP-seq
MIRT2020391	hsa-miR-3140-3p	CLIP-seq
MIRT2020392	hsa-miR-3145-3p	CLIP-seq
MIRT2020393	hsa-miR-3151	CLIP-seq
MIRT2020394	hsa-miR-3165	CLIP-seq
MIRT1082010	hsa-miR-3192	CLIP-seq
MIRT1082012	hsa-miR-3646	CLIP-seq
MIRT2020395	hsa-miR-3691-5p	CLIP-seq
MIRT2020396	hsa-miR-3911	CLIP-seq
MIRT1082017	hsa-miR-3921	CLIP-seq
MIRT1082018	hsa-miR-424	CLIP-seq
MIRT2020397	hsa-miR-4262	CLIP-seq
MIRT2020398	hsa-miR-4283	CLIP-seq
MIRT2020399	hsa-miR-4302	CLIP-seq
MIRT2020400	hsa-miR-4307	CLIP-seq
MIRT2020401	hsa-miR-4324	CLIP-seq
MIRT2020402	hsa-miR-4329	CLIP-seq
MIRT2020403	hsa-miR-4420	CLIP-seq
MIRT1082021	hsa-miR-4421	CLIP-seq
MIRT2020404	hsa-miR-4435	CLIP-seq
MIRT2020405	hsa-miR-4473	CLIP-seq
MIRT2020406	hsa-miR-4477a	CLIP-seq
MIRT2020407	hsa-miR-4489	CLIP-seq
MIRT1556593	hsa-miR-4633-3p	CLIP-seq
MIRT1082029	hsa-miR-4653-5p	CLIP-seq
MIRT2020408	hsa-miR-4729	CLIP-seq
MIRT2020409	hsa-miR-4764-5p	CLIP-seq
MIRT2020410	hsa-miR-4773	CLIP-seq
MIRT2020411	hsa-miR-4778-3p	CLIP-seq
MIRT2020412	hsa-miR-483-3p	CLIP-seq
MIRT1082041	hsa-miR-497	CLIP-seq
MIRT2020413	hsa-miR-5096	CLIP-seq
MIRT2020414	hsa-miR-512-3p	CLIP-seq
MIRT2020415	hsa-miR-513a-3p	CLIP-seq
MIRT2020416	hsa-miR-520f	CLIP-seq
MIRT2020417	hsa-miR-541	CLIP-seq
MIRT2020418	hsa-miR-644	CLIP-seq
MIRT2020419	hsa-miR-654-5p	CLIP-seq
MIRT2020420	hsa-miR-671-5p	CLIP-seq
MIRT2020421	hsa-miR-942	CLIP-seq
MIRT2252156	hsa-miR-1245b-5p	CLIP-seq
MIRT1082062	hsa-miR-1267	CLIP-seq
MIRT2252157	hsa-miR-219-1-3p	CLIP-seq
MIRT2252158	hsa-miR-3142	CLIP-seq
MIRT2252159	hsa-miR-3182	CLIP-seq
MIRT2252160	hsa-miR-3978	CLIP-seq
MIRT2252161	hsa-miR-4261	CLIP-seq
MIRT2252162	hsa-miR-4310	CLIP-seq
MIRT2020405	hsa-miR-4473	CLIP-seq
MIRT2252163	hsa-miR-4652-3p	CLIP-seq
MIRT2020414	hsa-miR-512-3p	CLIP-seq
MIRT2020416	hsa-miR-520f	CLIP-seq
MIRT2252164	hsa-miR-571	CLIP-seq
MIRT2252165	hsa-miR-617	CLIP-seq
MIRT2252166	hsa-miR-645	CLIP-seq
MIRT2252167	hsa-miR-653	CLIP-seq
MIRT2252168	hsa-miR-890	CLIP-seq
MIRT2389667	hsa-miR-4639-3p	CLIP-seq
MIRT2452239	hsa-miR-106a	CLIP-seq
MIRT2452240	hsa-miR-106b	CLIP-seq
MIRT2452241	hsa-miR-1266	CLIP-seq
MIRT2452242	hsa-miR-1276	CLIP-seq
MIRT2452243	hsa-miR-1294	CLIP-seq
MIRT2452244	hsa-miR-17	CLIP-seq
MIRT2452245	hsa-miR-18a	CLIP-seq
MIRT2452246	hsa-miR-18b	CLIP-seq
MIRT2452247	hsa-miR-20a	CLIP-seq
MIRT2452248	hsa-miR-20b	CLIP-seq
MIRT2452249	hsa-miR-3127-5p	CLIP-seq
MIRT2452250	hsa-miR-3199	CLIP-seq
MIRT2452251	hsa-miR-3609	CLIP-seq
MIRT2452252	hsa-miR-3670	CLIP-seq
MIRT2452253	hsa-miR-3692	CLIP-seq
MIRT2452254	hsa-miR-3915	CLIP-seq
MIRT2452255	hsa-miR-3918	CLIP-seq
MIRT2452256	hsa-miR-3926	CLIP-seq
MIRT2452257	hsa-miR-3928	CLIP-seq
MIRT2452258	hsa-miR-4316	CLIP-seq
MIRT1082072	hsa-miR-4476	CLIP-seq
MIRT2452259	hsa-miR-4509	CLIP-seq
MIRT2452260	hsa-miR-4518	CLIP-seq
MIRT2452261	hsa-miR-4698	CLIP-seq
MIRT2452262	hsa-miR-4735-3p	CLIP-seq
MIRT2452263	hsa-miR-4744	CLIP-seq
MIRT2452264	hsa-miR-4796-3p	CLIP-seq
MIRT2452265	hsa-miR-510	CLIP-seq
MIRT2452266	hsa-miR-519d	CLIP-seq
MIRT2452267	hsa-miR-548ah	CLIP-seq
MIRT2452268	hsa-miR-93	CLIP-seq
MIRT2452241	hsa-miR-1266	CLIP-seq
MIRT2452242	hsa-miR-1276	CLIP-seq
MIRT2452249	hsa-miR-3127-5p	CLIP-seq
MIRT2452250	hsa-miR-3199	CLIP-seq
MIRT2452252	hsa-miR-3670	CLIP-seq
MIRT2452255	hsa-miR-3918	CLIP-seq
MIRT2452256	hsa-miR-3926	CLIP-seq
MIRT2452260	hsa-miR-4518	CLIP-seq
MIRT2452265	hsa-miR-510	CLIP-seq
MIRT2555509	hsa-miR-1237	CLIP-seq
MIRT2555510	hsa-miR-1248	CLIP-seq
MIRT2555511	hsa-miR-3140-5p	CLIP-seq
MIRT2555512	hsa-miR-4268	CLIP-seq
MIRT2555513	hsa-miR-4448	CLIP-seq
MIRT2555514	hsa-miR-4540	CLIP-seq
MIRT1082046	hsa-miR-548ae	CLIP-seq
MIRT1082047	hsa-miR-548aj	CLIP-seq
MIRT1082048	hsa-miR-548am	CLIP-seq
MIRT1082052	hsa-miR-548x	CLIP-seq
MIRT2555509	hsa-miR-1237	CLIP-seq
MIRT2555510	hsa-miR-1248	CLIP-seq
MIRT2452241	hsa-miR-1266	CLIP-seq
MIRT2452242	hsa-miR-1276	CLIP-seq
MIRT2020390	hsa-miR-224	CLIP-seq
MIRT2452249	hsa-miR-3127-5p	CLIP-seq
MIRT2555511	hsa-miR-3140-5p	CLIP-seq
MIRT2452250	hsa-miR-3199	CLIP-seq
MIRT2683242	hsa-miR-3653	CLIP-seq
MIRT2452252	hsa-miR-3670	CLIP-seq
MIRT2452255	hsa-miR-3918	CLIP-seq
MIRT2452256	hsa-miR-3926	CLIP-seq
MIRT2555512	hsa-miR-4268	CLIP-seq
MIRT2683243	hsa-miR-4291	CLIP-seq
MIRT2252162	hsa-miR-4310	CLIP-seq
MIRT2555513	hsa-miR-4448	CLIP-seq
MIRT2683244	hsa-miR-4502	CLIP-seq
MIRT2452260	hsa-miR-4518	CLIP-seq
MIRT2555514	hsa-miR-4540	CLIP-seq
MIRT2452265	hsa-miR-510	CLIP-seq
MIRT1082046	hsa-miR-548ae	CLIP-seq
MIRT1082047	hsa-miR-548aj	CLIP-seq
MIRT1082048	hsa-miR-548am	CLIP-seq
MIRT2683245	hsa-miR-548c-3p	CLIP-seq
MIRT1082052	hsa-miR-548x	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Unknown	21072171

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	15528406
GO:0003779	Function	Actin binding	IDA	15703204
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	7877450, 7993625, 11880513, 12388065
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	29330545, 31152168
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	10692449, 15528406, 15703204, 18287010, 20613726, 20959415, 22547800
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IDA	15703204
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	7573516, 7877450, 7993625, 11245614, 12388065, 17706472, 18458941
GO:0006813	Process	Potassium ion transport	IEA
GO:0006970	Process	Response to osmotic stress	IDA	10840032, 12388065
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	7573516, 7877450, 7993625
GO:0015269	Function	Calcium-activated potassium channel activity	IDA	7573516, 7877450, 7993625, 11245614, 11880513, 17706472, 18458941
GO:0015269	Function	Calcium-activated potassium channel activity	IEA
GO:0016020	Component	Membrane	IDA	7573516, 7877450, 11880513
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	10840032
GO:0030007	Process	Intracellular potassium ion homeostasis	IDA	11245614
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034465	Process	Response to carbon monoxide	IDA	15528406
GO:0034465	Process	Response to carbon monoxide	IMP	18180950
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042311	Process	Vasodilation	IBA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042391	Process	Regulation of membrane potential	IDA	7877450, 7993625
GO:0042802	Function	Identical protein binding	IPI	20574420
GO:0043065	Process	Positive regulation of apoptotic process	IMP	11245614
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045794	Process	Negative regulation of cell volume	IDA	12388065
GO:0046872	Function	Metal ion binding	IEA
GO:0051592	Process	Response to calcium ion	IDA	12388065, 18458941
GO:0055085	Process	Transmembrane transport	IEA
GO:0060072	Function	Large conductance calcium-activated potassium channel activity	IBA
GO:0060072	Function	Large conductance calcium-activated potassium channel activity	IDA	7993625
GO:0060072	Function	Large conductance calcium-activated potassium channel activity	IMP	15703204
GO:0060073	Process	Micturition	IDA	11641143
GO:0060083	Process	Smooth muscle contraction involved in micturition	IDA	11641143
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

Other IDs

• MIM: 600150
• HGNC: 6284
• e!Ensembl: ENSG00000156113

Protein

• UniProt ID: Q12791
• Protein name: Calcium-activated potassium channel subunit alpha-1 (BK channel) (BKCA alpha) (Calcium-activated potassium channel, subfamily M subunit alpha-1) (K(VCA)alpha) (KCa1.1) (Maxi K channel) (MaxiK) (Slo-alpha) (Slo1) (Slowpoke homolog) (Slo homolog) (hSlo)
• Protein function: Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+) (PubMed:14523450, PubMed:29330545, PubMed:31152168). It is also activated by the concentration of cytosolic Mg(2+). Its acti
• PDB: 2K44, 3MT5, 3NAF, 6ND0, 6V22, 6V35, 6V38, 6V3G, 6V5A, 7YNZ, 7YO0, 7YO1, 7YO2, 7YO3, 7YO4, 7YO5, 8GH9, 8GHF, 8GHG, 8V60, 8V63, 8V64, 8VAV, 8VAZ, 8Z3S, 9CZH, 9CZJ, 9CZK, 9CZM, 9CZO, 9CZQ, 9D18, 9D19, 9JO3, 9JO4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	178 → 397	Ion transport protein	Family
  PF03493	BK_channel_a	538 → 633	Calcium-activated BK potassium channel alpha subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Except in myocytes, it is almost ubiquitously expressed. {ECO:0000269|PubMed:11880513}.
• Sequence:

  MANGGGGGGGSSGGGGGGGGSSLRMSSNIHANHLSLDASSSSSSSSSSSSSSSSSSSSSS
  VHEPKMDALIIPVTMEVPCDSRGQRMWWAFLASSMVTFFGGLFIILLWRTLKYLWTVCCH
  CGGKTKEAQKINNGSSQADGTLKPVDEKEEAVAAEVGWMTSVKDWAGVMISAQTLTGRVL
  VVLVFALSIGALVIYFIDSSNPIESCQNFYKDFTLQIDMAFNVFFLLYFGLRFIAANDKL
  WFWLEVNSVVDFFTVPPVFVSVYLNRSWLGLRFLRALRLIQFSEILQFLNILKTSNSIKL
  VNLLSIFISTWLTAAGFIHLVENSGDPWENFQNNQALTYWECVYLLMVTMSTVGYGDVYA
  KTTLGRLFMVFFILGGLAMFASYVPEIIELIGNRKKYGGSYSAVSGRKHIVVCGHITLES
  VSNFLKDFLHKDRDDVNVEIVFLHNISPNLELEALFKRHFTQVEFYQGSVLNPHDLARVK
  IESADACLILANKYCADPDAEDASNIMRVISIKNYHPKIRIITQMLQYHNKAHLLNIPSW
  NWKEGDDAICLAELKLGFIAQSCLAQGLSTMLANLFSMRSFIKIEEDTWQKYYLEGVSNE
  MYTEYLSSAFVGLSFPTVCELCFVKLKLLMIAIEYKSANRESRILINPGNHLKIQEGTLG
  FFIASDAKEVKRAFFYCKACHDDITDPKRIKKCGCKRPKMSIYKRMRRACCFDCGRSERD
  CSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAFEDEQPSTLSPKKKQRNGGMRNSPN
  TSPKLMRHDPLLIPGNDQIDNMDSNVKKYDSTGMFHWCAPKEIEKVILTRSEAAMTVLSG
  HVVVCIFGDVSSALIGLRNLVMPLRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVS
  ILPGTPLSRADLRAVNINLCDMCVILSANQNNIDDTSLQDKECILASLNIKSMQFDDSIG
  VLQANSQGFTPPGMDRSSPDNSPVHGMLRQPSITTGVNIPIITELVNDTNVQFLDQDDDD
  DPDTELYLTQPFACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELEALIAEEN
  ALRGGYSTPQTLANRDRCRVAQLALLDGPFADLGDGGCYGDLFCKALKTYNMLCFGIYRL
  RDAHLSTPSQCTKRYVITNPPYEFELVPTDLIFCLMQFDHNAGQSRASLSHSSHSSQSSS
  KKSSSVHSIPSTANRQNRPKSRESRDKQKYVQEERL

• Sequence length: 1236

Pathways

KEGG:

cGMP-PKG signaling pathway
Vascular smooth muscle contraction
Insulin secretion
Renin secretion
Salivary secretion
Pancreatic secretion

Reactome:

Ca2+ activated K+ channels

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autism spectrum disorder	Likely pathogenic	rs2551714172	RCV003127290
Cerebellar atrophy, developmental delay, and seizures	Likely pathogenic; Pathogenic	rs1348741432, rs762705295, rs1328294721, rs2096271045	RCV003994697 RCV000504577 RCV000852286 RCV001260493
Generalized epilepsy-paroxysmal dyskinesia syndrome	Pathogenic; Likely pathogenic	rs753408207, rs2093893902, rs2154251764, rs2090875352, rs2153792334, rs2152944295, rs2153773364, rs863224885, rs137853333, rs886039469, rs2549038309, rs2551593769, rs2550658119, rs1554966197, rs1565091862, rs2063502424, rs2065361594, rs2094531972	RCV001385175 RCV001988029 RCV001976650 RCV002009234 RCV001945420 RCV001923418 RCV002250063 RCV000200082 RCV000010034 RCV000504575 RCV003510556 RCV003510614 RCV003623493 RCV000504574 RCV000710351 RCV001065360 RCV001212768 RCV001300650
Intellectual disability	Likely pathogenic; Pathogenic	rs150678882, rs2049489016	RCV001252026 RCV001257729
KCNMA1-related disorder	Likely pathogenic; Pathogenic	rs2090875352, rs2549937925, rs2551802036, rs150678882	RCV004553629 RCV004548662 RCV004552482 RCV001420997
Liang-Wang syndrome	Likely pathogenic; Pathogenic	rs2153792212, rs1554829003, rs2153875876, rs150678882, rs2049489016	RCV002052154 RCV000991268 RCV000991269 RCV001775159 RCV002269354

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cholangiocarcinoma	Benign	rs2574790	RCV005925080
Epilepsy, idiopathic generalized, susceptibility to, 16	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs79390996, rs188354139, rs2154571203, rs202124080, rs2154549804, rs2154521818, rs1356235297, rs1489738951, rs1328322372, rs116546993, rs200420124, rs1453880868, rs373620901, rs1555528807, rs13377017, rs757636988, rs753684298, rs749265202, rs760628050, rs973739483, rs2097289257, rs202188493	RCV002495934 RCV005396981 RCV001837325 RCV001839216 RCV002227755 RCV002266690 RCV003988089 RCV003224695 RCV003388264 RCV002504060 RCV002494945 RCV005054537 RCV001591163 RCV002483417 RCV003224360 RCV002485759 RCV003224444 RCV005392414 RCV003128412 RCV004799339 RCV001262815 RCV002493605
Gastric cancer	Benign	rs1871066	RCV005919833
Global developmental delay	Uncertain significance	rs1476399505	RCV001787702
Hypotonia	Uncertain significance	rs1476399505	RCV001787702
Infantile epileptic dyskinetic encephalopathy	Conflicting classifications of pathogenicity	rs760628050	RCV001535601
Lung cancer	Benign	rs1871066	RCV005919835
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs201400753	RCV005911416
Sarcoma	Likely benign	rs113649310	RCV005919275
See cases	Uncertain significance	rs1312161191, rs2548188343, rs1370349180, rs768061213	RCV002252952 RCV002287800 RCV002252293 RCV003128560
Seizure	Uncertain significance	rs199681253	RCV002271992
Spastic ataxia	Uncertain significance	rs1057518815	RCV000415432
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs764468883	RCV005902010
Uterine carcinosarcoma	Benign	rs1871066, rs2574790	RCV005919834 RCV005925079
Uterine corpus endometrial carcinoma	Uncertain significance	rs763848235	RCV005927667

Associations from Text Mining
Disease Name	Relationship Type	References
Adenoma Oxyphilic	Associate	25848765, 28975890
Allergic Fungal Sinusitis	Associate	24595210
Angioedema	Associate	32080354
Aortic Root Aneurysm	Associate	34499417
Aphasia	Associate	29545233
Apraxias	Associate	31152168
Arthritis Rheumatoid	Associate	22074915, 27165430, 28428266
Ataxia	Associate	31152168, 35156297
Atrophy	Associate	31152168
Autism Spectrum Disorder	Associate	31674007, 35509069, 40483526
Autistic Disorder	Associate	34368859, 35509069
Blast Crisis	Associate	33178487
Body Dysmorphic Disorders	Associate	31152168
Bone Diseases Developmental	Associate	31152168
Bowen syndrome	Associate	31152168, 35156297
Breast Neoplasms	Associate	19640305, 22899999, 27973439, 29751615, 34181803
Calcinosis Cutis	Associate	28975890
Carcinoma Ovarian Epithelial	Associate	31210304
Carcinoma Renal Cell	Associate	25848765
Cardiomyopathy Dilated	Associate	34499417
Cerebellar Diseases	Associate	29545233, 34499417
Channelopathies	Associate	31851553, 34499417, 36995317
Chondrosarcoma	Associate	34181803
Chorea	Associate	29545233, 31152168, 33178487, 35156297
Cognition Disorders	Associate	35156297
Colonic Neoplasms	Associate	10988242
Congenital Abnormalities	Associate	35156297
Connective Tissue Diseases	Associate	34563042
Conversion Disorder	Associate	35509069
Developmental Disabilities	Associate	29545233, 31152168, 34499417, 34563042, 35156297
Diabetes Mellitus	Associate	34563042
Diabetes Mellitus Transient Neonatal 1	Associate	34563042
Diabetes Mellitus Type 1	Associate	35058920
Drug Related Side Effects and Adverse Reactions	Associate	30927276
Drug Resistant Epilepsy	Associate	28388656
Dysarthria	Associate	31152168
Dyskinesia Drug Induced	Associate	29545233, 31851553
Dystonia	Associate	32633875
Endometrial Neoplasms	Associate	35832124
Epilepsy	Associate	29330545, 29545233, 31152168, 31851553, 35156297
Epilepsy Generalized	Associate	29924869
Epileptic Encephalopathy Early Infantile 3	Associate	37353388
Esophageal Squamous Cell Carcinoma	Associate	33660797
Fabry Disease	Associate	40233852
Facial Dysmorphism with Multiple Malformations	Associate	34499417
Familial duodenal atresia	Associate	34499417
Gingival Hypertrophy	Associate	34499417
Glioblastoma	Associate	36539587
Glioma	Associate	21072171
Growth Disorders	Associate	34499417
Halal Setton Wang syndrome	Associate	34563042, 35156297
Hearing Loss Noise Induced	Associate	30947719
Heart Diseases	Associate	31152168
Heredodegenerative Disorders Nervous System	Associate	39217512
Hyperplasia	Associate	35368875
Hypoxia	Associate	14522958
Infant Newborn Diseases	Associate	34499417
Intellectual Disability	Associate	29545233, 31152168, 35156297, 35509069
Language Development Disorders	Associate	31152168, 34499417
Language Disorders	Associate	40483526
Macular Degeneration	Associate	31415580
Melanoma	Associate	21072171
Meningioma	Associate	21157382, 32596316
Mesothelioma Malignant	Associate	27245839
Movement Disorders	Associate	32633875
Moyamoya Disease	Associate	35368875
Multiple Sclerosis	Associate	32979043
Muscle Hypotonia	Associate	31152168
Myelitis Transverse	Associate	32979043
Myopia	Associate	31415580
Myotonic Dystrophy	Associate	27763639
Neoplasm Metastasis	Associate	37958656
Neoplasms	Associate	22899999, 27973439, 34181803, 37958656
Neoplasms	Stimulate	27245839
Nervous System Diseases	Associate	36995317
Neurologic Manifestations	Associate	31851553, 32633875
Neuromyelitis Optica	Associate	32979043
Neutropenia	Associate	30927276
Obesity	Associate	21708048, 37399741
Opioid Related Disorders	Associate	35301427
Osteoporosis	Associate	36717952
Osteosarcoma	Associate	34181803
Otitis Media	Associate	19728873
Ovarian Neoplasms	Associate	22899999, 26386726
Paroxysmal nonkinesigenic dyskinesia	Associate	29545233
Personality Disorders	Associate	21157382
Photophobia	Associate	35509069
Prostatic Neoplasms	Associate	19229700, 21072171, 22899999, 23840433, 34948357
Pulmonary Arterial Hypertension	Associate	34349187
Seizures	Associate	29545233
Smoke Inhalation Injury	Associate	29631575
Spinal Cord Diseases	Associate	32979043
Status Epilepticus	Associate	33178487
Stomach Neoplasms	Associate	31322220, 31888440
Syndrome	Associate	29924869, 34563042
Vision Disorders	Associate	35509069