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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CACNA1E-related disorder	Likely pathogenic; Pathogenic	rs886039323	RCV003417866
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
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
Van der Woude syndrome 1	Likely pathogenic; Pathogenic	rs12131800	RCV001756024

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs371357458, rs1176353172	-
Acute myeloid leukemia	Benign	rs3927750	RCV005925247
Developmental and epileptic encephalopathy, 14	Benign	rs377382446	RCV005863666
Episodic coma	Benign	rs1382064469	RCV000758167
Gastric cancer	Likely benign	rs74127864	RCV005918641
Genetic developmental and epileptic encephalopathy	Uncertain significance	rs76315042, rs1350235743	RCV005626714 RCV005626715
Intellectual disability	Conflicting classifications of pathogenicity	rs373971175	RCV001251931
Lung cancer	Benign	rs372063125	RCV005916470
Malignant lymphoma, large B-cell, diffuse	Benign	rs704328, rs3927750	RCV005919867 RCV005925248
Malignant tumor of urinary bladder	Benign; Likely benign	rs375338599	RCV005914224
Ovarian serous cystadenocarcinoma	Likely benign	rs74127864	RCV005918642
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs372912168, rs1327484784, rs2102509671	RCV003128433 RCV003232553 RCV002253024
Uterine corpus endometrial carcinoma	Benign	rs3927750	RCV005925249
Wolff-Parkinson-White pattern	Uncertain significance	rs766235230	RCV000656172

Associations from Text Mining
Disease Name	Relationship Type	References
Anorchia	Associate	34702355
Autism Spectrum Disorder	Associate	34702355
Brain Stem Neoplasms	Associate	28573794
Breast Neoplasms	Associate	33962648, 37628841
Carcinoma Non Small Cell Lung	Associate	21738778, 26288819
Carcinoma Squamous Cell	Associate	27602771
Cognition Disorders	Associate	34702355
Colorectal Neoplasms	Associate	30621030
Contracture	Associate	30343943
COVID 19	Associate	36104591
Death	Associate	30343943
Dental Caries	Associate	29859070
Diabetes Mellitus	Associate	39273144
Diabetes Mellitus Type 1	Stimulate	30543678
Diabetes Mellitus Type 2	Associate	22427875, 39273144
Dyskinesia Drug Induced	Associate	30343943
Epilepsy	Associate	28573794, 30343943, 33441621
Epileptic Encephalopathy Early Infantile 3	Associate	30343943
Gastrointestinal Stromal Tumors	Associate	25987131
Hyperkinesis	Associate	30343943
Hypertension Pulmonary	Associate	39542781
Infarction	Associate	9583183
Insulin Resistance	Associate	22427875
Intellectual Disability	Associate	34702355
Ischemia	Associate	9583183
Language Development Disorders	Associate	30343943
Leukemia Lymphocytic Chronic B Cell	Associate	29513759
Lung Neoplasms	Associate	26288819
Lymphoma Follicular	Inhibit	17885671
Megalencephaly	Associate	30343943
Migraine Disorders	Associate	28573794
Migraine with Aura	Associate	28573794, 36786913
Mucocutaneous Lymph Node Syndrome	Associate	36042431
Muscle Hypotonia	Associate	30343943
Neoplasms	Associate	27602771, 30621030, 39208653
Pneumonia Lipid	Associate	7468588
Seizures	Associate	30343943
Stomach Neoplasms	Associate	29286091
Tn Syndrome	Associate	39208653