ANK3 (ankyrin 3)

Gene

• Entrez ID: 288
• Gene name: Ankyrin 3
• Gene symbol: ANK3
• Synonyms: ANKYRIN-G, MRT37
• Chromosome: 10
• Chromosome location: 10q21.2
• Summary: Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of spe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34796699	AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant, genic upstream transcript variant
rs140741466	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs144123544	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs184515022	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs370950407	A>-	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs544357242	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs879255535	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1060499742	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1589763169	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1590691724	G>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT629131	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT629131	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT441234	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441234	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT629131	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT629131	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT781667	hsa-miR-101	CLIP-seq
MIRT781668	hsa-miR-10a	CLIP-seq
MIRT781669	hsa-miR-10b	CLIP-seq
MIRT781670	hsa-miR-1323	CLIP-seq
MIRT781671	hsa-miR-140-3p	CLIP-seq
MIRT781672	hsa-miR-144	CLIP-seq
MIRT781673	hsa-miR-217	CLIP-seq
MIRT781674	hsa-miR-29a	CLIP-seq
MIRT781675	hsa-miR-29b	CLIP-seq
MIRT781676	hsa-miR-29c	CLIP-seq
MIRT781677	hsa-miR-3120-3p	CLIP-seq
MIRT781678	hsa-miR-3144-3p	CLIP-seq
MIRT781679	hsa-miR-33a	CLIP-seq
MIRT781680	hsa-miR-33b	CLIP-seq
MIRT781681	hsa-miR-3613-5p	CLIP-seq
MIRT781682	hsa-miR-3651	CLIP-seq
MIRT781683	hsa-miR-3660	CLIP-seq
MIRT781684	hsa-miR-3663-3p	CLIP-seq
MIRT781685	hsa-miR-3674	CLIP-seq
MIRT781686	hsa-miR-4509	CLIP-seq
MIRT781687	hsa-miR-4526	CLIP-seq
MIRT781688	hsa-miR-4640-3p	CLIP-seq
MIRT781689	hsa-miR-4645-3p	CLIP-seq
MIRT781690	hsa-miR-4676-5p	CLIP-seq
MIRT781691	hsa-miR-4699-3p	CLIP-seq
MIRT781692	hsa-miR-4712-5p	CLIP-seq
MIRT781693	hsa-miR-4731-3p	CLIP-seq
MIRT781694	hsa-miR-4732-3p	CLIP-seq
MIRT781695	hsa-miR-4744	CLIP-seq
MIRT781696	hsa-miR-4751	CLIP-seq
MIRT781697	hsa-miR-4789-5p	CLIP-seq
MIRT781698	hsa-miR-4795-3p	CLIP-seq
MIRT781699	hsa-miR-4801	CLIP-seq
MIRT781700	hsa-miR-518a-3p	CLIP-seq
MIRT781701	hsa-miR-518b	CLIP-seq
MIRT781702	hsa-miR-518c	CLIP-seq
MIRT781703	hsa-miR-518d-3p	CLIP-seq
MIRT781704	hsa-miR-518f	CLIP-seq
MIRT781705	hsa-miR-524-3p	CLIP-seq
MIRT781706	hsa-miR-525-3p	CLIP-seq
MIRT781707	hsa-miR-545	CLIP-seq
MIRT781708	hsa-miR-548o	CLIP-seq
MIRT781709	hsa-miR-548p	CLIP-seq
MIRT781710	hsa-miR-556-5p	CLIP-seq
MIRT781711	hsa-miR-561	CLIP-seq
MIRT781712	hsa-miR-568	CLIP-seq
MIRT781713	hsa-miR-575	CLIP-seq
MIRT781714	hsa-miR-578	CLIP-seq
MIRT781715	hsa-miR-583	CLIP-seq
MIRT781716	hsa-miR-643	CLIP-seq
MIRT781717	hsa-miR-767-5p	CLIP-seq
MIRT781718	hsa-miR-770-5p	CLIP-seq
MIRT781667	hsa-miR-101	CLIP-seq
MIRT781719	hsa-miR-103a	CLIP-seq
MIRT781720	hsa-miR-107	CLIP-seq
MIRT781721	hsa-miR-1261	CLIP-seq
MIRT781722	hsa-miR-1301	CLIP-seq
MIRT781671	hsa-miR-140-3p	CLIP-seq
MIRT781723	hsa-miR-142-5p	CLIP-seq
MIRT781724	hsa-miR-182	CLIP-seq
MIRT781725	hsa-miR-27a	CLIP-seq
MIRT781726	hsa-miR-27b	CLIP-seq
MIRT781727	hsa-miR-3065-5p	CLIP-seq
MIRT781728	hsa-miR-3122	CLIP-seq
MIRT781729	hsa-miR-3153	CLIP-seq
MIRT781730	hsa-miR-3158-3p	CLIP-seq
MIRT781731	hsa-miR-3179	CLIP-seq
MIRT781732	hsa-miR-3189-5p	CLIP-seq
MIRT781733	hsa-miR-3192	CLIP-seq
MIRT781734	hsa-miR-3682-5p	CLIP-seq
MIRT781735	hsa-miR-3913-5p	CLIP-seq
MIRT781736	hsa-miR-3943	CLIP-seq
MIRT781737	hsa-miR-4282	CLIP-seq
MIRT781738	hsa-miR-4303	CLIP-seq
MIRT781739	hsa-miR-4314	CLIP-seq
MIRT781740	hsa-miR-4323	CLIP-seq
MIRT781741	hsa-miR-4423-5p	CLIP-seq
MIRT781689	hsa-miR-4645-3p	CLIP-seq
MIRT781742	hsa-miR-4646-5p	CLIP-seq
MIRT781743	hsa-miR-4661-5p	CLIP-seq
MIRT781744	hsa-miR-4668-5p	CLIP-seq
MIRT781745	hsa-miR-4682	CLIP-seq
MIRT781746	hsa-miR-4714-3p	CLIP-seq
MIRT781696	hsa-miR-4751	CLIP-seq
MIRT781747	hsa-miR-4760-3p	CLIP-seq
MIRT781748	hsa-miR-4769-3p	CLIP-seq
MIRT781749	hsa-miR-5047	CLIP-seq
MIRT781750	hsa-miR-5096	CLIP-seq
MIRT781751	hsa-miR-513a-3p	CLIP-seq
MIRT781752	hsa-miR-513a-5p	CLIP-seq
MIRT781753	hsa-miR-548n	CLIP-seq
MIRT781754	hsa-miR-548t	CLIP-seq
MIRT781711	hsa-miR-561	CLIP-seq
MIRT781715	hsa-miR-583	CLIP-seq
MIRT781755	hsa-miR-599	CLIP-seq
MIRT781756	hsa-miR-922	CLIP-seq
MIRT1922567	hsa-miR-1237	CLIP-seq
MIRT1930694	hsa-miR-3618	CLIP-seq
MIRT781697	hsa-miR-4789-5p	CLIP-seq
MIRT1930695	hsa-miR-485-3p	CLIP-seq
MIRT1930696	hsa-miR-488	CLIP-seq
MIRT1930697	hsa-miR-584	CLIP-seq
MIRT1930698	hsa-miR-616	CLIP-seq
MIRT781716	hsa-miR-643	CLIP-seq
MIRT1930699	hsa-miR-934	CLIP-seq
MIRT781688	hsa-miR-4640-3p	CLIP-seq
MIRT1930700	hsa-miR-4667-3p	CLIP-seq
MIRT781755	hsa-miR-599	CLIP-seq
MIRT781667	hsa-miR-101	CLIP-seq
MIRT781672	hsa-miR-144	CLIP-seq
MIRT2171304	hsa-miR-4328	CLIP-seq
MIRT2171305	hsa-miR-4519	CLIP-seq
MIRT1930695	hsa-miR-485-3p	CLIP-seq
MIRT2171306	hsa-miR-135a	CLIP-seq
MIRT2171307	hsa-miR-135b	CLIP-seq
MIRT2171308	hsa-miR-153	CLIP-seq
MIRT781725	hsa-miR-27a	CLIP-seq
MIRT781726	hsa-miR-27b	CLIP-seq
MIRT2171309	hsa-miR-300	CLIP-seq
MIRT2171310	hsa-miR-3117-5p	CLIP-seq
MIRT2171311	hsa-miR-34a	CLIP-seq
MIRT2171312	hsa-miR-34c-5p	CLIP-seq
MIRT2171313	hsa-miR-381	CLIP-seq
MIRT2171314	hsa-miR-409-5p	CLIP-seq
MIRT2171315	hsa-miR-4274	CLIP-seq
MIRT2171304	hsa-miR-4328	CLIP-seq
MIRT2171316	hsa-miR-448	CLIP-seq
MIRT2171317	hsa-miR-449a	CLIP-seq
MIRT2171318	hsa-miR-449b	CLIP-seq
MIRT2171319	hsa-miR-450b-5p	CLIP-seq
MIRT2171305	hsa-miR-4519	CLIP-seq
MIRT781688	hsa-miR-4640-3p	CLIP-seq
MIRT2171320	hsa-miR-4666-3p	CLIP-seq
MIRT1930700	hsa-miR-4667-3p	CLIP-seq
MIRT2171321	hsa-miR-4668-3p	CLIP-seq
MIRT2171322	hsa-miR-4724-5p	CLIP-seq
MIRT781697	hsa-miR-4789-5p	CLIP-seq
MIRT2171323	hsa-miR-4790-3p	CLIP-seq
MIRT2171324	hsa-miR-507	CLIP-seq
MIRT2171325	hsa-miR-509-3p	CLIP-seq
MIRT781752	hsa-miR-513a-5p	CLIP-seq
MIRT2171326	hsa-miR-520d-5p	CLIP-seq
MIRT2171327	hsa-miR-524-5p	CLIP-seq
MIRT2171328	hsa-miR-557	CLIP-seq
MIRT781712	hsa-miR-568	CLIP-seq
MIRT781714	hsa-miR-578	CLIP-seq
MIRT781755	hsa-miR-599	CLIP-seq
MIRT2171329	hsa-miR-621	CLIP-seq
MIRT781716	hsa-miR-643	CLIP-seq
MIRT781719	hsa-miR-103a	CLIP-seq
MIRT781720	hsa-miR-107	CLIP-seq
MIRT781722	hsa-miR-1301	CLIP-seq
MIRT781728	hsa-miR-3122	CLIP-seq
MIRT781735	hsa-miR-3913-5p	CLIP-seq
MIRT2443636	hsa-miR-450b-3p	CLIP-seq
MIRT2443637	hsa-miR-498	CLIP-seq
MIRT781749	hsa-miR-5047	CLIP-seq
MIRT781751	hsa-miR-513a-3p	CLIP-seq
MIRT2443638	hsa-miR-769-3p	CLIP-seq
MIRT781756	hsa-miR-922	CLIP-seq
MIRT2443639	hsa-miR-944	CLIP-seq
MIRT781667	hsa-miR-101	CLIP-seq
MIRT1922567	hsa-miR-1237	CLIP-seq
MIRT781672	hsa-miR-144	CLIP-seq
MIRT2474298	hsa-miR-1827	CLIP-seq
MIRT2474299	hsa-miR-2053	CLIP-seq
MIRT2474300	hsa-miR-2682	CLIP-seq
MIRT2171310	hsa-miR-3117-5p	CLIP-seq
MIRT2474301	hsa-miR-3167	CLIP-seq
MIRT2171311	hsa-miR-34a	CLIP-seq
MIRT2171312	hsa-miR-34c-5p	CLIP-seq
MIRT781681	hsa-miR-3613-5p	CLIP-seq
MIRT1930694	hsa-miR-3618	CLIP-seq
MIRT781682	hsa-miR-3651	CLIP-seq
MIRT781685	hsa-miR-3674	CLIP-seq
MIRT2474302	hsa-miR-3935	CLIP-seq
MIRT2171314	hsa-miR-409-5p	CLIP-seq
MIRT2474303	hsa-miR-4263	CLIP-seq
MIRT2171317	hsa-miR-449a	CLIP-seq
MIRT2171318	hsa-miR-449b	CLIP-seq
MIRT2474304	hsa-miR-449c	CLIP-seq
MIRT2171319	hsa-miR-450b-5p	CLIP-seq
MIRT2474305	hsa-miR-4521	CLIP-seq
MIRT781689	hsa-miR-4645-3p	CLIP-seq
MIRT2474306	hsa-miR-4652-3p	CLIP-seq
MIRT781743	hsa-miR-4661-5p	CLIP-seq
MIRT781690	hsa-miR-4676-5p	CLIP-seq
MIRT781692	hsa-miR-4712-5p	CLIP-seq
MIRT2171322	hsa-miR-4724-5p	CLIP-seq
MIRT781693	hsa-miR-4731-3p	CLIP-seq
MIRT2474307	hsa-miR-4766-5p	CLIP-seq
MIRT781748	hsa-miR-4769-3p	CLIP-seq
MIRT2474308	hsa-miR-4775	CLIP-seq
MIRT2474309	hsa-miR-4778-5p	CLIP-seq
MIRT2474310	hsa-miR-4786-5p	CLIP-seq
MIRT2171323	hsa-miR-4790-3p	CLIP-seq
MIRT781699	hsa-miR-4801	CLIP-seq
MIRT1930696	hsa-miR-488	CLIP-seq
MIRT2171325	hsa-miR-509-3p	CLIP-seq
MIRT2171326	hsa-miR-520d-5p	CLIP-seq
MIRT781705	hsa-miR-524-3p	CLIP-seq
MIRT2171327	hsa-miR-524-5p	CLIP-seq
MIRT781706	hsa-miR-525-3p	CLIP-seq
MIRT781713	hsa-miR-575	CLIP-seq
MIRT2474311	hsa-miR-586	CLIP-seq
MIRT2474312	hsa-miR-590-3p	CLIP-seq
MIRT781755	hsa-miR-599	CLIP-seq
MIRT2474313	hsa-miR-769-5p	CLIP-seq
MIRT781718	hsa-miR-770-5p	CLIP-seq
MIRT2474314	hsa-miR-876-5p	CLIP-seq
MIRT1930699	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	14757759, 17620337
GO:0005200	Function	Structural constituent of cytoskeleton	IMP	17620337
GO:0005515	Function	Protein binding	IPI	15231748, 15611082, 19934039, 20195357
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	8666667
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	ISS
GO:0005923	Component	Bicellular tight junction	IDA	14757759
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007009	Process	Plasma membrane organization	IMP	17620337
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007409	Process	Axonogenesis	ISS
GO:0007528	Process	Neuromuscular junction development	ISS
GO:0008092	Function	Cytoskeletal protein binding	ISS	21223964
GO:0008093	Function	Cytoskeletal anchor activity	IBA	21873635
GO:0009925	Component	Basal plasma membrane	IDA	21223964
GO:0009986	Component	Cell surface	ISS	21223964
GO:0010628	Process	Positive regulation of gene expression	ISS	18180363
GO:0010650	Process	Positive regulation of cell communication by electrical coupling	ISS
GO:0010765	Process	Positive regulation of sodium ion transport	ISS	18180363
GO:0010960	Process	Magnesium ion homeostasis	ISS
GO:0014704	Component	Intercalated disc	ISS
GO:0014731	Component	Spectrin-associated cytoskeleton	ISS
GO:0016323	Component	Basolateral plasma membrane	IDA	15611082
GO:0016328	Component	Lateral plasma membrane	IDA	14757759
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0019228	Process	Neuronal action potential	ISS
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030507	Function	Spectrin binding	IBA	21873635
GO:0030507	Function	Spectrin binding	ISS
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0031594	Component	Neuromuscular junction	ISS
GO:0033268	Component	Node of Ranvier	ISS
GO:0034112	Process	Positive regulation of homotypic cell-cell adhesion	ISS
GO:0042383	Component	Sarcolemma	IDA	21223964
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	17620337
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043005	Component	Neuron projection	ISS
GO:0043034	Component	Costamere	TAS	21223964
GO:0043194	Component	Axon initial segment	IDA	27356871
GO:0043194	Component	Axon initial segment	ISS
GO:0043266	Process	Regulation of potassium ion transport	ISS
GO:0044325	Function	Ion channel binding	IBA	21873635
GO:0044325	Function	Ion channel binding	ISS
GO:0045184	Process	Establishment of protein localization	IMP	15611082
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045296	Function	Cadherin binding	ISS
GO:0045838	Process	Positive regulation of membrane potential	ISS	18180363
GO:0071286	Process	Cellular response to magnesium ion	ISS
GO:0071709	Process	Membrane assembly	IMP	14757759, 17620337
GO:0071709	Process	Membrane assembly	ISS
GO:0072659	Process	Protein localization to plasma membrane	IBA	21873635
GO:0072659	Process	Protein localization to plasma membrane	IGI	18180363
GO:0072659	Process	Protein localization to plasma membrane	IMP	14757759, 17620337
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0072660	Process	Maintenance of protein location in plasma membrane	IGI	17620337
GO:0090314	Process	Positive regulation of protein targeting to membrane	ISS
GO:0099612	Process	Protein localization to axon	ISS
GO:1900827	Process	Positive regulation of membrane depolarization during cardiac muscle cell action potential	ISS	18180363
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	ISS
GO:2000651	Process	Positive regulation of sodium ion transmembrane transporter activity	ISS	18180363
GO:2001259	Process	Positive regulation of cation channel activity	ISS

Other IDs

• MIM: 600465
• HGNC: 494
• e!Ensembl: ENSG00000151150

Protein

• UniProt ID: Q12955
• Protein name: Ankyrin-3 (ANK-3) (Ankyrin-G)
• Protein function: Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (PubMed:7836469). In skeletal muscle, required for costamere localization
• PDB: 4O6X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	46 → 137	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	129 → 202	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	197 → 267	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	258 → 331	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	324 → 397	Ankyrin repeats (3 copies)	Repeat
  PF13637	Ank_4	367 → 420		Repeat
  PF12796	Ank_2	395 → 463	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	461 → 529	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	503 → 594	Ankyrin repeats (3 copies)	Repeat
  PF13857	Ank_5	551 → 605		Repeat
  PF12796	Ank_2	569 → 661	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	668 → 760	Ankyrin repeats (3 copies)	Repeat
  PF13637	Ank_4	730 → 783		Repeat
  PF00791	ZU5	985 → 1083	ZU5 domain	Family
  PF17809	UPA_2	1308 → 1438	UPA domain	Domain
  PF00531	Death	4091 → 4174	Death domain	Domain

• Sequence:

  MAHAASQLKKNRDLEINAEEEPEKKRKHRKRSRDRKKKSDANASYLRAARAGHLEKALDY
  IKNGVDINICNQNGLNALHLASKEGHVEVVSELLQREANVDAATKKGNTALHIASLAGQA
  EVVKVLVTNGANVNAQSQNGFTPLYMAAQENHLEVVKFLLDNGASQSLATEDGFTPLAVA
  LQQGHDQVVSLLLENDTKGKVRLPALHIAARKDDTKAAALLLQNDNNADVESKSGFTPLH
  IAAHYGNINVATLLLNRAAAVDFTARNDITPLHVASKRGNANMVKLLLDRGAKIDAKTRD
  GLTPLHCGARSGHEQVVEMLLDRAAPILSKTKNGLSPLHMATQGDHLNCVQLLLQHNVPV
  DDVTNDYLTALHVAAHCGHYKVAKVLLDKKANPNAKALNGFTPLHIACKKNRIKVMELLL
  KHGASIQAVTESGLTPIHVAAFMGHVNIVSQLMHHGASPNTTNVRGETALHMAARSGQAE
  VVRYLVQDGAQVEAKAKDDQTPLHISARLGKADIVQQLLQQGASPNAATTSGYTPLHLSA
  REGHEDVAAFLLDHGASLSITTKKGFTPLHVAAKYGKLEVANLLLQKSASPDAAGKSGLT
  PLHVAAHYDNQKVALLLLDQGASPHAAAKNGYTPLHIAAKKNQMDIATTLLEYGADANAV
  TRQGIASVHLAAQEGHVDMVSLLLGRNANVNLSNKSGLTPLHLAAQEDRVNVAEVLVNQG
  AHVDAQTKMGYTPLHVGCHYGNIKIVNFLLQHSAKVNAKTKNGYTPLHQAAQQGHTHIIN
  VLLQNNASPNELTVNGNTALGIARRLGYISVVDTLKIVTEETMTTTTVTEKHKMNVPETM
  NEVLDMSDDEVRKANAPEMLSDGEYISDVEEGEDAMTGDTDKYLGPQDLKELGDDSLPAE
  GYMGFSLGARSASLRSFSSDRSYTLNRSSYARDSMMIEELLVPSKEQHLTFTREFDSDSL
  RHYSWAADTLDNVNLVSSPIHSGFLVSFMVDARGGSMRGSRHHGMRIIIPPRKCTAPTRI
  TCRLVKRHKLANPPPMVEGEGLASRLVEMGPAGAQFLGPVIVEIPHFGSMRGKERELIVL
  RSENGETWKEHQFDSKNEDLTELLNGMDEELDSPEELGKKRICRIITKDFPQYFAVVSRI
  KQESNQIGPEGGILSSTTVPLVQASFPEGALTKRIRVGLQAQPVPDEIVKKILGNKATFS
  PIVTVEPRRRKFHKPITMTIPVPPPSGEGVSNGYKGDTTPNLRLLCSITGGTSPAQWEDI
  TGTTPLTFIKDCVSFTTNVSARFWLADCHQVLETVGLATQLYRELICVPYMAKFVVFAKM
  NDPVESSLRCFCMTDDKVDKTLEQQENFEEVARSKDIEVLEGKPIYVDCYGNLAPLTKGG
  QQLVFNFYSFKENRLPFSIKIRDTSQEPCGRLSFLKEPKTTKGLPQTAVCNLNITLPAHK
  KETESDQDDEIEKTDRRQSFASLALRKRYSYLTEPGMIERSTGATRSLPTTYSYKPFFST
  RPYQSWTTAPITVPGPAKSGFTSLSSSSSNTPSASPLKSIWSVSTPSPIKSTLGASTTSS
  VKSISDVASPIRSFRTMSSPIKTVVSQSPYNIQVSSGTLARAPAVTEATPLKGLASNSTF
  SSRTSPVTTAGSLLERSSITMTPPASPKSNINMYSSSLPFKSIITSAAPLISSPLKSVVS
  PVKSAVDVISSAKITMASSLSSPVKQMPGHAEVALVNGSISPLKYPSSSTLINGCKATAT
  LQEKISSATNSVSSVVSAATDTVEKVFSTTTAMPFSPLRSYVSAAPSAFQSLRTPSASAL
  YTSLGSSISATTSSVTSSIITVPVYSVVNVLPEPALKKLPDSNSFTKSAAALLSPIKTLT
  TETHPQPHFSRTSSPVKSSLFLAPSALKLSTPSSLSSSQEILKDVAEMKEDLMRMTAILQ
  TDVPEEKPFQPELPKEGRIDDEEPFKIVEKVKEDLVKVSEILKKDVCVDNKGSPKSPKSD
  KGHSPEDDWIEFSSEEIREARQQAAASQSPSLPERVQVKAKAASEKDYNLTKVIDYLTND
  IGSSSLTNLKYKFEDAKKDGEERQKRVLKPAIALQEHKLKMPPASMRTSTSEKELCKMAD
  SFFGTDTILESPDDFSQHDQDKSPLSDSGFETRSEKTPSAPQSAESTGPKPLFHEVPIPP
  VITETRTEVVHVIRSYDPSAGDVPQTQPEEPVSPKPSPTFMELEPKPTTSSIKEKVKAFQ
  MKASSEEDDHNRVLSKGMRVKEETHITTTTRMVYHSPPGGEGASERIEETMSVHDIMKAF
  QSGRDPSKELAGLFEHKSAVSPDVHKSAAETSAQHAEKDNQMKPKLERIIEVHIEKGNQA
  EPTEVIIRETKKHPEKEMYVYQKDLSRGDINLKDFLPEKHDAFPCSEEQGQQEEEELTAE
  ESLPSYLESSRVNTPVSQEEDSRPSSAQLISDDSYKTLKLLSQHSIEYHDDELSELRGES
  YRFAEKMLLSEKLDVSHSDTEESVTDHAGPPSSELQGSDKRSREKIATAPKKEILSKIYK
  DVSENGVGKVSKDEHFDKVTVLHYSGNVSSPKHAMWMRFTEDRLDRGREKLIYEDRVDRT
  VKEAEEKLTEVSQFFRDKTEKLNDELQSPEKKARPKNGKEYSSQSPTSSSPEKVLLTELL
  ASNDEWVKARQHGPDGQGFPKAEEKAPSLPSSPEKMVLSQQTEDSKSTVEAKGSISQSKA
  PDGPQSGFQLKQSKLSSIRLKFEQGTHAKSKDMSQEDRKSDGQSRIPVKKIQESKLPVYQ
  VFAREKQQKAIDLPDESVSVQKDFMVLKTKDEHAQSNEIVVNDSGSDNVKKQRTEMSSKA
  MPDSFSEQQAKDLACHITSDLATRGPWDKKVFRTWESSGATNNKSQKEKLSHVLVHDVRE
  NHIGHPESKSVDQKNEFMSVTERERKLLTNGSLSEIKEMTVKSPSKKVLYREYVVKEGDH
  PGGLLDQPSRRSESSAVSHIPVRVADERRMLSSNIPDGFCEQSAFPKHELSQKLSQSSMS
  KETVETQHFNSIEDEKVTYSEISKVSKHQSYVGLCPPLEETETSPTKSPDSLEFSPGKES
  PSSDVFDHSPIDGLEKLAPLAQTEGGKEIKTLPVYVSFVQVGKQYEKEIQQGGVKKIISQ
  ECKTVQETRGTFYTTRQQKQPPSPQGSPEDDTLEQVSFLDSSGKSPLTPETPSSEEVSYE
  FTSKTPDSLIAYIPGKPSPIPEVSEESEEEEQAKSTSLKQTTVEETAVEREMPNDVSKDS
  NQRPKNNRVAYIEFPPPPPLDADQIESDKKHHYLPEKEVDMIEVNLQDEHDKYQLAEPVI
  RVQPPSPVPPGADVSDSSDDESIYQPVPVKKYTFKLKEVDDEQKEKPKASAEKASNQKEL
  ESNGSGKDNEFGLGLDSPQNEIAQNGNNDQSITECSIATTAEFSHDTDATEIDSLDGYDL
  QDEDDGLTESDSKLPIQAMEIKKDIWNTEGILKPADRSFSQSKLEVIEEEGKVGPDEDKP
  PSKSSSSEKTPDKTDQKSGAQFFTLEGRHPDRSVFPDTYFSYKVDEEFATPFKTVATKGL
  DFDPWSNNRGDDEVFDSKSREDETKPFGLAVEDRSPATTPDTTPARTPTDESTPTSEPNP
  FPFHEGKMFEMTRSGAIDMSKRDFVEERLQFFQIGEHTSEGKSGDQGEGDKSMVTATPQP
  QSGDTTVETNLERNVETPTVEPNPSIPTSGECQEGTSSSGSLEKSAAATNTSKVDPKLRT
  PIKMGISASTMTMKKEGPGEITDKIEAVMTSCQGLENETITMISNTANSQMGVRPHEKHD
  FQKDNFNNNNNLDSSTIQTDNIMSNIVLTEHSAPTCTTEKDNPVKVSSGKKTGVLQGHCV
  RDKQKVLGEQQKTKELIGIRQKSKLPIKATSPKDTFPPNHMSNTKASKMKQVSQSEKTKA
  LTTSSCVDVKSRIPVKNTHRDNIIAVRKACATQKQGQPEKGKAKQLPSKLPVKVRSTCVT
  TTTTTATTTTTTTTTTTTSCTVKVRKSQLKEVCKHSIEYFKGISGETLKLVDRLSEEEKK
  MQSELSDEEESTSRNTSLSETSRGGQPSVTTKSARDKKTEAAPLKSKSEKAGSEKRSSRR
  TGPQSPCERTDIRMAIVADHLGLSWTELARELNFSVDEINQIRVENPNSLISQSFMLLKK
  WVTRDGKNATTDALTSVLTKINRIDIVTLLEGPIFDYGNISGTRSFADENNVFHDPVDGW
  QNETSSGNLESCAQARRVTGGLLDRLDDSPDQCRDSITSYLKGEAGKFEANGSHTEITPE
  AKTKSYFPESQNDVGKQSTKETLKPKIHGSGHVEEPASPLAAYQKSLEETSKLIIEETKP
  CVPVSMKKMSRTSPADGKPRLSLHEEEGSSGSEQKQGEGFKVKTKKEIRHVEKKSHS

• Sequence length: 4377

Pathways

KEGG:

Cytoskeleton in muscle cells
Proteoglycans in cancer

Reactome:

Interaction between L1 and Ankyrins
COPI-mediated anterograde transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	24529757
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019	23453885
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	24529757
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	27935865
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Mild Mental Retardation, Moderate intellectual disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	23390136
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24016415, 24809399, 24361380, 22688191, 21926974, 23453885

Unknown
Disease name	Disease term	dbSNP ID	References
Anhedonia	Anhedonia		21676128
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		28072414, 20351715, 18711365, 21926972, 22182935, 24618891, 31043756, 23637625, 25304227, 21926974, 25711502, 24655771, 24016415, 23453885, 24809399, 31043756, 21926974, 18711365
Depressed bipolar disorder	Depressed bipolar I disorder		31043756
Development disorder	Child Development Disorders, Pervasive		23453885
Grand mal status epilepticus	Grand Mal Status Epilepticus		19306853
Intellectual disability-sleep disturbance syndrome	ANK3-related intellectual disability-sleep disturbance syndrome
Lung neoplasms	Lung Neoplasms		27935865
Manic disorder	Manic, Manic Disorder		18711365, 21926974, 31043756, 21926974, 18711365, 31043756
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	23453885, 20351715
Mood disorder	Mood Disorders		21276201, 24944871
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		19306853
Nonorganic psychosis	Nonorganic psychosis		24016415
Petit mal status	Petit mal status		19306853
Progeria	Progeria		27217151
Psychosis	Psychotic Disorders		24809399, 24016415
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		19306853
Transient psychotic disorder	Acute transient psychotic disorder		31553412