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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	777
Gene name Gene Name - the full gene name approved by the HGNC.	Calcium voltage-gated channel subunit alpha1 E
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CACNA1E
Synonyms (NCBI Gene) Gene synonyms aliases	BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE69
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q25.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(10)

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

Show/Hide all(248)

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

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	8071363
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006816	Process	Calcium ion transport	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0022843	Function	Voltage-gated cation channel activity	IDA	30343943
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0045202	Component	Synapse	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0051899	Process	Membrane depolarization	TAS
GO:0070509	Process	Calcium ion import	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
601013	1392	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

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus		Presynaptic depolarization and calcium channel opening Regulation of insulin secretion

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	30343943
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	30343943
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557	30343943
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	30343943
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (6)

Disease term	Disease name	References	Source
Unknown
Congenital contracture	Congenital contracture	30343943	ClinVar
Mental depression	Major Depressive Disorder	30718901	ClinVar
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy		GenCC
Neurodevelopmental Disorders	neurodevelopmental disorder		GenCC
Neuroticism	Neuroticism		GWAS
Dementia	Dementia		GWAS

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text Mining
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

CACNA1E (calcium voltage-gated channel subunit alpha1 E)