ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	ANK3
Approved Name	ankyrin 3, node of Ranvier (ankyrin G)
Name Alias	ankyrin-3, node of Ranvier, "ankyrin-G"
Location	10q21
Position	chr10:61788159-62493248, -
External Links	HGNC: 494 Entrez Gene: 288 Ensembl: ENSG00000151150 UCSC: uc001jky.2
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Landaas ET, 2011	no SNP showed evidence of association	Non-significant

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs10994336	Chr10:62179812(Fwd)	NMD_transcript_variant; intron_variant	1(0/1/0)
rs9804190	Chr10:61839831(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 4)

rs_ID	Location	Functional Annotation
rs10994338	Chr10:62181128(Fwd)	NMD_transcript_variant; intron_variant
rs4948418	Chr10:62185494(Fwd)	NMD_transcript_variant; intron_variant
rs10994397	Chr10:62279124(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs10994359	Chr10:62222107(Fwd)	NMD_transcript_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 41)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 41)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005923	tight junction	Cellular Component	IDA[14757759]	15
GO:0007009	plasma membrane organization	Biological Process	IMP[17620337]	2
GO:0005764	lysosome	Cellular Component		31
GO:0005886	plasma membrane	Cellular Component		772
GO:0005200	structural constituent of cytoskeleton	Molecular Function	IMP[17620337]	14
GO:0005515	protein binding	Molecular Function	IPI[15611082]	910
GO:0000281	cytokinesis after mitosis	Biological Process	IMP[17620337]	4
GO:0043194	axon initial segment	Cellular Component		2
GO:0043266	regulation of potassium ion transport	Biological Process		4
GO:0044325	ion channel binding	Molecular Function		15
GO:0045184	establishment of protein localization	Biological Process	IMP[15611082]	4
GO:0033268	node of Ranvier	Cellular Component		1
GO:0042383	sarcolemma	Cellular Component		11
GO:0043001	Golgi to plasma membrane protein transport	Biological Process	IMP[17620337]	3
GO:0043034	costamere	Cellular Component		4
GO:0071709	membrane assembly	Biological Process	IMP[17620337]	1
GO:0072659	protein localization to plasma membrane	Biological Process	IGI[18180363]; IMP[14757759]	4
GO:0072660	maintenance of protein location in plasma membrane	Biological Process	IGI[17620337]	1
GO:0072661	protein targeting to plasma membrane	Biological Process	IMP[17620337]	5
GO:1900827	positive regulation of membrane depolarization involved in regulation of cardiac muscle cell action potential	Biological Process	ISS[18180363]	1
GO:0045211	postsynaptic membrane	Cellular Component		41
GO:2000651	positive regulation of sodium ion transmembrane transporter activity	Biological Process	ISS[18180363]	2
GO:0045296	cadherin binding	Molecular Function		9
GO:0045838	positive regulation of membrane potential	Biological Process	ISS[18180363]	1
GO:0050808	synapse organization	Biological Process		6
GO:0009986	cell surface	Cellular Component		70
GO:0009925	basal plasma membrane	Cellular Component		1
GO:0010765	positive regulation of sodium ion transport	Biological Process	ISS[18180363]	5
GO:0010628	positive regulation of gene expression	Biological Process	ISS[18180363]	28
GO:0007409	axonogenesis	Biological Process		14
GO:0007165	signal transduction	Biological Process		171
GO:0008092	cytoskeletal protein binding	Molecular Function		11
GO:0007411	axon guidance	Biological Process		65
GO:0030315	T-tubule	Cellular Component		12
GO:0019228	regulation of action potential in neuron	Biological Process		4
GO:0030674	protein binding, bridging	Molecular Function		11
GO:0030507	spectrin binding	Molecular Function		2
GO:0014731	spectrin-associated cytoskeleton	Cellular Component		1
GO:0014704	intercalated disc	Cellular Component		10
GO:0016328	lateral plasma membrane	Cellular Component	IDA[14757759]	8
GO:0016323	basolateral plasma membrane	Cellular Component	IDA[15611082]	29

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with ANK3 (count: 13)

Gene Symbol	Pathway Count	Pathway List
CAV3	8	plasma membrane organization; plasma membrane; protein binding; ion channel binding; sarcolemma; protein localization to plasma membrane; cell surface; T-tubule;
APC	7	tight junction; plasma membrane; protein binding; cytokinesis after mitosis; cadherin binding; axonogenesis; lateral plasma membrane;
TRPC1	6	plasma membrane; protein binding; ion channel binding; costamere; axon guidance; basolateral plasma membrane;
TRPC4	6	plasma membrane; protein binding; cadherin binding; cell surface; axon guidance; basolateral plasma membrane;
TJP1	5	tight junction; plasma membrane; protein binding; intercalated disc; basolateral plasma membrane;
GJA1	5	lysosome; plasma membrane; protein binding; signal transduction; intercalated disc;
APBB1	5	plasma membrane; protein binding; axonogenesis; signal transduction; axon guidance;
DRD2	5	plasma membrane; protein binding; regulation of potassium ion transport; axonogenesis; lateral plasma membrane;
ERBB2	5	plasma membrane; protein binding; signal transduction; axon guidance; basolateral plasma membrane;
FLNC	5	plasma membrane; protein binding; sarcolemma; costamere; cytoskeletal protein binding;
NRXN1	5	plasma membrane; protein binding; establishment of protein localization; cell surface; axon guidance;
SCN3B	5	plasma membrane; ion channel binding; protein localization to plasma membrane; positive regulation of sodium ion transport; axon guidance;
CTNNA2	5	structural constituent of cytoskeleton; protein binding; cadherin binding; axonogenesis; basolateral plasma membrane;

Genes shared at least 2 KEGG pathways with ANK3 (count: 0)

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Region: chr10:61788159..62493248 View in gBrowse