CACNA1E (calcium voltage-gated channel subunit alpha1 E)

Gene

• Entrez ID: 777
• Gene name: Calcium voltage-gated channel subunit alpha1 E
• Gene symbol: CACNA1E
• Synonyms (NCBI Gene): BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139
• Chromosome: 1
• Chromosome location: 1q25.3
• Summary: Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12131800	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs778291283	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869312920	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886039323	G>A	Pathogenic	Coding sequence variant, missense variant
rs1064795779	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1159957403	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1382064469	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553286278	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553286282	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558308998	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT708588	hsa-miR-892b	HITS-CLIP	19536157
MIRT708587	hsa-miR-6840-5p	HITS-CLIP	19536157
MIRT708586	hsa-miR-5587-3p	HITS-CLIP	19536157
MIRT708585	hsa-miR-106b-3p	HITS-CLIP	19536157
MIRT708584	hsa-miR-6815-3p	HITS-CLIP	19536157
MIRT659922	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT659921	hsa-miR-4286	HITS-CLIP	23824327
MIRT659920	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT659919	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT659918	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT659917	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT659916	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT708588	hsa-miR-892b	HITS-CLIP	19536157
MIRT708587	hsa-miR-6840-5p	HITS-CLIP	19536157
MIRT708586	hsa-miR-5587-3p	HITS-CLIP	19536157
MIRT708585	hsa-miR-106b-3p	HITS-CLIP	19536157
MIRT708584	hsa-miR-6815-3p	HITS-CLIP	19536157
MIRT659922	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT659921	hsa-miR-4286	HITS-CLIP	23824327
MIRT659920	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT659919	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT659918	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT659917	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT659916	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT857566	hsa-miR-1245b-5p	CLIP-seq
MIRT857567	hsa-miR-1321	CLIP-seq
MIRT857568	hsa-miR-138	CLIP-seq
MIRT857569	hsa-miR-3065-5p	CLIP-seq
MIRT857570	hsa-miR-3126-5p	CLIP-seq
MIRT857571	hsa-miR-3129-3p	CLIP-seq
MIRT857572	hsa-miR-3142	CLIP-seq
MIRT857573	hsa-miR-3150b-3p	CLIP-seq
MIRT857574	hsa-miR-3153	CLIP-seq
MIRT857575	hsa-miR-320a	CLIP-seq
MIRT857576	hsa-miR-320b	CLIP-seq
MIRT857577	hsa-miR-320c	CLIP-seq
MIRT857578	hsa-miR-320d	CLIP-seq
MIRT857579	hsa-miR-3667-5p	CLIP-seq
MIRT857580	hsa-miR-4299	CLIP-seq
MIRT857581	hsa-miR-4419a	CLIP-seq
MIRT857582	hsa-miR-4420	CLIP-seq
MIRT857583	hsa-miR-4429	CLIP-seq
MIRT857584	hsa-miR-4487	CLIP-seq
MIRT857585	hsa-miR-4490	CLIP-seq
MIRT857586	hsa-miR-4510	CLIP-seq
MIRT857587	hsa-miR-4710	CLIP-seq
MIRT857588	hsa-miR-4739	CLIP-seq
MIRT857589	hsa-miR-4756-5p	CLIP-seq
MIRT857590	hsa-miR-4784	CLIP-seq
MIRT857591	hsa-miR-4792	CLIP-seq
MIRT857592	hsa-miR-583	CLIP-seq
MIRT857593	hsa-miR-591	CLIP-seq
MIRT857594	hsa-miR-606	CLIP-seq
MIRT857595	hsa-miR-765	CLIP-seq
MIRT857596	hsa-miR-873	CLIP-seq
MIRT857597	hsa-let-7a	CLIP-seq
MIRT857598	hsa-let-7b	CLIP-seq
MIRT857599	hsa-let-7c	CLIP-seq
MIRT857600	hsa-let-7d	CLIP-seq
MIRT857601	hsa-let-7e	CLIP-seq
MIRT857602	hsa-let-7f	CLIP-seq
MIRT857603	hsa-let-7g	CLIP-seq
MIRT857604	hsa-let-7i	CLIP-seq
MIRT857605	hsa-miR-122	CLIP-seq
MIRT857606	hsa-miR-1224-5p	CLIP-seq
MIRT857607	hsa-miR-1231	CLIP-seq
MIRT857608	hsa-miR-1233	CLIP-seq
MIRT857609	hsa-miR-1245b-3p	CLIP-seq
MIRT857610	hsa-miR-1248	CLIP-seq
MIRT857611	hsa-miR-1271	CLIP-seq
MIRT857612	hsa-miR-1285	CLIP-seq
MIRT857613	hsa-miR-1304	CLIP-seq
MIRT857614	hsa-miR-1322	CLIP-seq
MIRT857615	hsa-miR-139-5p	CLIP-seq
MIRT857616	hsa-miR-1587	CLIP-seq
MIRT857617	hsa-miR-15a	CLIP-seq
MIRT857618	hsa-miR-15b	CLIP-seq
MIRT857619	hsa-miR-16	CLIP-seq
MIRT857620	hsa-miR-182	CLIP-seq
MIRT857621	hsa-miR-1913	CLIP-seq
MIRT857622	hsa-miR-195	CLIP-seq
MIRT857623	hsa-miR-202	CLIP-seq
MIRT857624	hsa-miR-203	CLIP-seq
MIRT857625	hsa-miR-2052	CLIP-seq
MIRT857626	hsa-miR-3074-5p	CLIP-seq
MIRT857627	hsa-miR-3119	CLIP-seq
MIRT857628	hsa-miR-3120-5p	CLIP-seq
MIRT857629	hsa-miR-3135b	CLIP-seq
MIRT857630	hsa-miR-3138	CLIP-seq
MIRT857631	hsa-miR-3140-3p	CLIP-seq
MIRT857632	hsa-miR-3150a-3p	CLIP-seq
MIRT857573	hsa-miR-3150b-3p	CLIP-seq
MIRT857633	hsa-miR-3151	CLIP-seq
MIRT857634	hsa-miR-3157-3p	CLIP-seq
MIRT857635	hsa-miR-3173-3p	CLIP-seq
MIRT857636	hsa-miR-3173-5p	CLIP-seq
MIRT857637	hsa-miR-3175	CLIP-seq
MIRT857638	hsa-miR-3180-5p	CLIP-seq
MIRT857639	hsa-miR-3187-5p	CLIP-seq
MIRT857640	hsa-miR-320e	CLIP-seq
MIRT857641	hsa-miR-324-3p	CLIP-seq
MIRT857642	hsa-miR-339-5p	CLIP-seq
MIRT857643	hsa-miR-33a	CLIP-seq
MIRT857644	hsa-miR-33b	CLIP-seq
MIRT857645	hsa-miR-34a	CLIP-seq
MIRT857646	hsa-miR-34c-5p	CLIP-seq
MIRT857647	hsa-miR-3618	CLIP-seq
MIRT857648	hsa-miR-3622b-5p	CLIP-seq
MIRT857649	hsa-miR-3652	CLIP-seq
MIRT857650	hsa-miR-3689d	CLIP-seq
MIRT857651	hsa-miR-375	CLIP-seq
MIRT857652	hsa-miR-378g	CLIP-seq
MIRT857653	hsa-miR-3915	CLIP-seq
MIRT857654	hsa-miR-3919	CLIP-seq
MIRT857655	hsa-miR-424	CLIP-seq
MIRT857656	hsa-miR-4265	CLIP-seq
MIRT857657	hsa-miR-4269	CLIP-seq
MIRT857658	hsa-miR-4273	CLIP-seq
MIRT857659	hsa-miR-4287	CLIP-seq
MIRT857660	hsa-miR-4292	CLIP-seq
MIRT857661	hsa-miR-4296	CLIP-seq
MIRT857662	hsa-miR-431	CLIP-seq
MIRT857663	hsa-miR-4311	CLIP-seq
MIRT857664	hsa-miR-4322	CLIP-seq
MIRT857665	hsa-miR-4330	CLIP-seq
MIRT857666	hsa-miR-4428	CLIP-seq
MIRT857667	hsa-miR-4430	CLIP-seq
MIRT857668	hsa-miR-4447	CLIP-seq
MIRT857669	hsa-miR-4453	CLIP-seq
MIRT857670	hsa-miR-4458	CLIP-seq
MIRT857671	hsa-miR-4469	CLIP-seq
MIRT857672	hsa-miR-4472	CLIP-seq
MIRT857673	hsa-miR-4486	CLIP-seq
MIRT857674	hsa-miR-4492	CLIP-seq
MIRT857675	hsa-miR-4498	CLIP-seq
MIRT857676	hsa-miR-449a	CLIP-seq
MIRT857677	hsa-miR-449b	CLIP-seq
MIRT857678	hsa-miR-4500	CLIP-seq
MIRT857679	hsa-miR-4505	CLIP-seq
MIRT857680	hsa-miR-450b-5p	CLIP-seq
MIRT857681	hsa-miR-4514	CLIP-seq
MIRT857682	hsa-miR-4521	CLIP-seq
MIRT857683	hsa-miR-4524	CLIP-seq
MIRT857684	hsa-miR-4538	CLIP-seq
MIRT857685	hsa-miR-4633-5p	CLIP-seq
MIRT857686	hsa-miR-4642	CLIP-seq
MIRT857687	hsa-miR-4656	CLIP-seq
MIRT857688	hsa-miR-4675	CLIP-seq
MIRT857689	hsa-miR-4677-5p	CLIP-seq
MIRT857690	hsa-miR-4684-3p	CLIP-seq
MIRT857691	hsa-miR-4685-3p	CLIP-seq
MIRT857692	hsa-miR-4688	CLIP-seq
MIRT857693	hsa-miR-4689	CLIP-seq
MIRT857694	hsa-miR-4692	CLIP-seq
MIRT857695	hsa-miR-4699-3p	CLIP-seq
MIRT857696	hsa-miR-4704-3p	CLIP-seq
MIRT857697	hsa-miR-4711-3p	CLIP-seq
MIRT857698	hsa-miR-4725-5p	CLIP-seq
MIRT857699	hsa-miR-4741	CLIP-seq
MIRT857700	hsa-miR-4742-5p	CLIP-seq
MIRT857701	hsa-miR-4749-3p	CLIP-seq
MIRT857702	hsa-miR-4752	CLIP-seq
MIRT857703	hsa-miR-4755-3p	CLIP-seq
MIRT857704	hsa-miR-4768-3p	CLIP-seq
MIRT857705	hsa-miR-4777-3p	CLIP-seq
MIRT857590	hsa-miR-4784	CLIP-seq
MIRT857706	hsa-miR-4800-5p	CLIP-seq
MIRT857707	hsa-miR-491-5p	CLIP-seq
MIRT857708	hsa-miR-497	CLIP-seq
MIRT857709	hsa-miR-503	CLIP-seq
MIRT857710	hsa-miR-504	CLIP-seq
MIRT857711	hsa-miR-507	CLIP-seq
MIRT857712	hsa-miR-520a-5p	CLIP-seq
MIRT857713	hsa-miR-525-5p	CLIP-seq
MIRT857714	hsa-miR-557	CLIP-seq
MIRT857715	hsa-miR-574-5p	CLIP-seq
MIRT857716	hsa-miR-581	CLIP-seq
MIRT857717	hsa-miR-582-3p	CLIP-seq
MIRT857592	hsa-miR-583	CLIP-seq
MIRT857593	hsa-miR-591	CLIP-seq
MIRT857594	hsa-miR-606	CLIP-seq
MIRT857718	hsa-miR-612	CLIP-seq
MIRT857719	hsa-miR-646	CLIP-seq
MIRT857720	hsa-miR-647	CLIP-seq
MIRT857721	hsa-miR-665	CLIP-seq
MIRT857722	hsa-miR-711	CLIP-seq
MIRT857723	hsa-miR-762	CLIP-seq
MIRT857595	hsa-miR-765	CLIP-seq
MIRT857724	hsa-miR-769-5p	CLIP-seq
MIRT857725	hsa-miR-934	CLIP-seq
MIRT857726	hsa-miR-939	CLIP-seq
MIRT857727	hsa-miR-96	CLIP-seq
MIRT857728	hsa-miR-98	CLIP-seq
MIRT1546034	hsa-miR-186	CLIP-seq
MIRT857654	hsa-miR-3919	CLIP-seq
MIRT1546035	hsa-miR-4718	CLIP-seq
MIRT857592	hsa-miR-583	CLIP-seq
MIRT1954693	hsa-miR-1827	CLIP-seq
MIRT857632	hsa-miR-3150a-3p	CLIP-seq
MIRT1954694	hsa-miR-3620	CLIP-seq
MIRT1954695	hsa-miR-3940-5p	CLIP-seq
MIRT857663	hsa-miR-4311	CLIP-seq
MIRT1954696	hsa-miR-4436b-3p	CLIP-seq
MIRT1954697	hsa-miR-4507	CLIP-seq
MIRT1954698	hsa-miR-4646-3p	CLIP-seq
MIRT1954699	hsa-miR-4661-3p	CLIP-seq
MIRT1954700	hsa-miR-4714-5p	CLIP-seq
MIRT1546035	hsa-miR-4718	CLIP-seq
MIRT857700	hsa-miR-4742-5p	CLIP-seq
MIRT1954701	hsa-miR-4772-5p	CLIP-seq
MIRT1954702	hsa-miR-4797-3p	CLIP-seq
MIRT857680	hsa-miR-450b-5p	CLIP-seq
MIRT857700	hsa-miR-4742-5p	CLIP-seq
MIRT857711	hsa-miR-507	CLIP-seq
MIRT857714	hsa-miR-557	CLIP-seq
MIRT1954693	hsa-miR-1827	CLIP-seq
MIRT2385445	hsa-miR-3125	CLIP-seq
MIRT857633	hsa-miR-3151	CLIP-seq
MIRT2385446	hsa-miR-3646	CLIP-seq
MIRT2385447	hsa-miR-3662	CLIP-seq
MIRT2385448	hsa-miR-3916	CLIP-seq
MIRT857656	hsa-miR-4265	CLIP-seq
MIRT857660	hsa-miR-4292	CLIP-seq
MIRT857661	hsa-miR-4296	CLIP-seq
MIRT2385449	hsa-miR-4308	CLIP-seq
MIRT857662	hsa-miR-431	CLIP-seq
MIRT857664	hsa-miR-4322	CLIP-seq
MIRT2385450	hsa-miR-4437	CLIP-seq
MIRT857668	hsa-miR-4447	CLIP-seq
MIRT857672	hsa-miR-4472	CLIP-seq
MIRT2385451	hsa-miR-4674	CLIP-seq
MIRT857697	hsa-miR-4711-3p	CLIP-seq
MIRT2385452	hsa-miR-4714-3p	CLIP-seq
MIRT2385453	hsa-miR-4795-5p	CLIP-seq
MIRT857707	hsa-miR-491-5p	CLIP-seq
MIRT857716	hsa-miR-581	CLIP-seq
MIRT857592	hsa-miR-583	CLIP-seq
MIRT2385454	hsa-miR-596	CLIP-seq
MIRT2385455	hsa-miR-649	CLIP-seq
MIRT2465029	hsa-miR-1269	CLIP-seq
MIRT2465030	hsa-miR-1269b	CLIP-seq
MIRT2465031	hsa-miR-4529-3p	CLIP-seq
MIRT2465029	hsa-miR-1269	CLIP-seq
MIRT2465030	hsa-miR-1269b	CLIP-seq
MIRT2465031	hsa-miR-4529-3p	CLIP-seq
MIRT2465029	hsa-miR-1269	CLIP-seq
MIRT2465030	hsa-miR-1269b	CLIP-seq
MIRT2465031	hsa-miR-4529-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	7536609, 8071363
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	30343943
GO:0005245	Function	Voltage-gated calcium channel activity	TAS	8071363
GO:0005262	Function	Calcium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	TAS	8071363
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	8071363
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IDA	30343943
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	IBA

Other IDs

• MIM: 601013
• HGNC: 1392
• e!Ensembl: ENSG00000198216

Protein

• UniProt ID: Q15878
• Protein name: Voltage-dependent R-type calcium channel subunit alpha-1E (Brain calcium channel II) (BII) (Calcium channel, L type, alpha-1 polypeptide, isoform 6) (Voltage-gated calcium channel subunit alpha Cav2.3)
• Protein function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter rel
• PDB: 3BXL, 7XLQ, 7YG5, 8EPL, 8EPM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	88 → 362	Ion transport protein	Family
  PF00520	Ion_trans	475 → 714	Ion transport protein	Family
  PF00520	Ion_trans	1152 → 1433	Ion transport protein	Family
  PF00520	Ion_trans	1477 → 1734	Ion transport protein	Family
  PF16905	GPHH	1743 → 1796	Voltage-dependent L-type calcium channel, IQ-associated	Family
  PF08763	Ca_chan_IQ	1806 → 1883	Voltage gated calcium channel IQ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neuronal tissues and in kidney.
• Sequence:

  MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQ
  NCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPM
  SRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHF
  NTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGL
  EFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVL
  TVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERER
  VENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT
  EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYW
  IVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSF
  NCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSM
  KSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWN
  EVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEE
  EAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQ
  RTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL
  ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAG
  GGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDH
  ELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVV
  LTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPL
  VDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTN
  PIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFE
  MVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL
  RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTD
  SSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQH
  SVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLE
  KNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYY
  SAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILT
  DSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFI
  YAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP
  DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHH
  LDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAED
  MTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKA
  SDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPY
  LQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSN
  HGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSME
  RSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC
  NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLP
  PVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQ
  HASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPN
  GHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC

• Sequence length: 2313

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
Type II diabetes mellitus

Reactome:

Presynaptic depolarization and calcium channel opening
Regulation of insulin secretion

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CACNA1E-related disorder	Likely pathogenic; Pathogenic	rs886039323	RCV003417866	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2102063243, rs2102499747, rs2102689621, rs2102689660, rs869312920, rs886039323, rs778291283, rs1553286282, rs12131800, rs1558308998	RCV001849566 RCV001849626 RCV001849628 RCV001849629 RCV001849348 RCV001849352 RCV001849373 RCV001849399 RCV001849415 RCV001849433	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 69	Likely pathogenic; Pathogenic	rs2102063243, rs2102682130, rs12131800, rs869312920, rs886039323, rs1653295871, rs2525532731, rs2528786590, rs778291283, rs1553286282, rs1558308998, rs1445829303, rs1658058398	RCV001775313 RCV002249325 RCV002280797 RCV000754087 RCV000754086 RCV003233380 RCV003319564 RCV004594842 RCV000754085 RCV006449274 RCV000754084 RCV000754088 RCV003458619 RCV001270723	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome 1	Likely pathogenic; Pathogenic	rs12131800	RCV001756024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMBLYOPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 14	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic coma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34702355	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	31150948		★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	28573794	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31484532		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33962648, 37628841	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	31150948		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27602771	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34702355	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30621030	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	17727731, 28573794		★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	GENOMICS_ENGLAND_DG	30343943		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	30343943	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29293112		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	29859070	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30521978		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30343943		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30304668		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30304668		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	39273144	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30543678	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22427875, 39273144	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17720895, 17934712, 22427875, 29286091		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30343943		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28573794, 30343943, 33441621	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30343943		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30343943		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	30343943	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	30343943		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69	Epileptic encephalopathy	UNIPROT_DG	30343943		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	28383294		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25987131	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30343943		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	30343943	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	39542781	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22427875	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30343943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	34702355	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	30343943	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26288819	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	17885671	Inhibit	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	GENOMICS_ENGLAND_DG	30343943		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	31484532		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30521978		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28573794		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	28573794	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	17727731, 28573794		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	28573794, 36786913	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	36042431	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17189400		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	29107659		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30343943	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29286091	Associate	★☆☆☆☆ Found in Text Mining only