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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	288
Gene name	Ankyrin 3
Gene symbol	ANK3
Synonyms (NCBI Gene)	ANKYRIN-GMRT37
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

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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

301

Show/Hide all (301)

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

Show/Hide all (83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	14757759, 17620337
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IMP	17620337
GO:0005515	Function	Protein binding	IPI	15231748, 15611082, 19934039, 20195357, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	8666667
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	8666667
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005923	Component	Bicellular tight junction	IDA	14757759
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
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:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	15611082
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	14757759
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0017080	Function	Sodium channel regulator activity	ISS
GO:0019228	Process	Neuronal action potential	ISS
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030507	Function	Spectrin binding	IBA
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:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	17620337
GO:0043005	Component	Neuron projection	IBA
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:0043226	Component	Organelle	IEA
GO:0043266	Process	Regulation of potassium ion transport	ISS
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0045184	Process	Establishment of protein localization	IMP	15611082
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045296	Function	Cadherin binding	ISS
GO:0045838	Process	Positive regulation of membrane potential	ISS	18180363
GO:0048193	Process	Golgi vesicle transport	IEA
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
GO:0072659	Process	Protein localization to plasma membrane	IEA
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:0099103	Function	Channel activator activity	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

MIM	HGNC	e!Ensembl
600465	494	ENSG00000151150

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

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, neurons, muscles and other tissues. {ECO:0000269|PubMed:21223964, ECO:0000269|PubMed:7836469}.

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

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Proteoglycans in cancer		Interaction between L1 and Ankyrins COPI-mediated anterograde transport

248

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499742	RCV000454308
Abnormality of the nervous system	Likely pathogenic	rs2132085924	RCV001814346
ANK3-related disorder	Pathogenic	rs2131982810	RCV003234115
Classic medulloblastoma	Pathogenic	rs2492555276	RCV003232623
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	Likely pathogenic; Pathogenic	rs1234025820, rs2132649260, rs1590691724, rs2084966849, rs2082373823, rs879255535	RCV001358746 RCV003128287 RCV000988366 RCV005401730 RCV001175255 RCV000074342

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ANK3-related neurodevelopmental disorder	Uncertain significance	rs753197813, rs777570818	RCV002266655 RCV002266666
Autism	Uncertain significance	rs112339619, rs375050420	RCV000722089 RCV000074343
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs41283526, rs140183285	RCV005900786 RCV005899828
Colon adenocarcinoma	Benign; Likely benign	rs370950407	RCV005867904
Familial cancer of breast	Conflicting classifications of pathogenicity	rs140183285, rs41283530	RCV005899827 RCV005908941
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs139982397, rs144841334	RCV005892233 RCV005913044
https://www.omim.org/entry/615493	Uncertain significance	rs767721464	RCV006273022
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs144465058, rs2082150277, rs2082556385, rs372922084, rs774735705, rs774832921, rs562083248, rs753653601, rs2098133661	RCV001252403 RCV001252402 RCV001252397 RCV001252401 RCV001252396 RCV001252398 RCV001252395 RCV001252399 RCV001252400
Intellectual disability, autosomal recessive 66	Uncertain significance	rs535526499, rs768220615	RCV002227562 RCV002227852
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs147054068, rs140183285	RCV005920952 RCV005899829
Malignant tumor of esophagus	Likely benign	rs375851106	RCV005928188
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs41283526	RCV005900787
Papillary renal cell carcinoma type 1	Likely benign	rs149876045	RCV005937548
Sarcoma	Uncertain significance	rs141587421	RCV005925533
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs2132296500, rs146434581	RCV002252720 RCV002253069
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs41283526	RCV005900788

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acromegaloid facial appearance syndrome	Associate	32911427
Affective Disorders Psychotic	Associate	25539505
Alzheimer Disease	Associate	30584014
Anodontia	Associate	28803425
Antisocial Personality Disorder	Associate	23796624
Anxiety	Associate	32801349
Attention Deficit Disorder with Hyperactivity	Associate	22498896
Autism Spectrum Disorder	Associate	34218362, 37263801
Bipolar Disorder	Associate	18711365, 19088739, 19329560, 19488044, 20185149, 21304963, 21305692, 21702894, 22498896, 22850628, 22892719, 23796624, 24016415, 24461634, 24716743 View all (14 more)
Brain Diseases	Associate	32911427
Carcinoma Renal Cell	Associate	37065178
Celiac Disease	Associate	27449795
Cerebral Cortical Thinning	Associate	24016415
Cleft Palate	Associate	31372216
Cognition Disorders	Associate	24016415, 37263801
Colorectal Neoplasms	Associate	28803425
Cutaneous Fistula	Associate	23796624
Death	Associate	31553412
Depressive Disorder	Associate	32911427, 37620394, 38012695
Depressive Disorder Major	Associate	32911427
Developmental Disabilities	Associate	30559312, 34218362
Disease	Associate	25052311
Early Onset Glaucoma	Associate	33324992
Fractures Spontaneous	Associate	27240527
Hypersensitivity Delayed	Associate	37263801
Idiopathic Pulmonary Fibrosis	Associate	38035073
Intellectual Disability	Associate	30584014
Language Development Disorders	Associate	37263801
Language Disorders	Associate	37263801
Learning Disabilities	Associate	30584014
Lung Injury	Associate	22986903
Major Affective Disorder 2	Associate	21702894
Mental Disorders	Associate	22521361, 37620394
Microphthalmia Syndromic 10	Associate	27488254
Mood Disorders	Associate	24944871
Neglected Diseases	Associate	37620394
Neoplasms	Associate	21999571
Neurodegenerative Diseases	Associate	30584014
Neurofibromatosis Noonan syndrome	Associate	34218362
Osteoporosis	Associate	27488254
Psychotic Disorders	Associate	24016415
Pulmonary Disease Chronic Obstructive	Associate	22986903
Schizophrenia	Associate	20185149, 21926974, 23796624, 24016415, 24461634, 25539505, 25897833, 27811378, 30297702
Sexual Trauma	Associate	37620394
Sleep Apnea Obstructive	Associate	34529670
Stress Disorders Post Traumatic	Associate	23796624
Substance Related Disorders	Associate	23796624
Ventricular Fibrillation	Associate	33324992
Wounds and Injuries	Associate	37620394

ANK3 (ankyrin 3)