Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ANK2
Previous Symbol	LQT4
Approved Name	ankyrin 2, neuronal
Previous Name	long (electrocardiographic) QT syndrome 4
Location	4q25-q26
Position	chr4:112818109-113383740, 1
External Links	HGNC: 493 Entrez Gene: 287 Ensembl: ENSG00000145362 UCSC: uc003ibe.4
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Winham S.J., 2014	SNP: rs17045162	No significant association of SNP in this gene with BD was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 70)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	ISS	360
GO:0030674	protein binding, bridging	molecular function	ISS	8
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0007411	axon guidance	biological process	TAS	60
GO:0005887	integral component of plasma membrane	cellular component	IEA	158

GO terms by database search (count: 65)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019899	enzyme binding	molecular function	IPI[21177872]	34
GO:0086091	regulation of heart rate by cardiac conduction	biological process	IMP[12571597]; ISS	6
GO:0043268	positive regulation of potassium ion transport	biological process	ISS	6
GO:0086005	ventricular cardiac muscle cell action potential	biological process	IMP[17242276]	3
GO:0002027	regulation of heart rate	biological process	IMP[18832177]	5
GO:0048471	perinuclear region of cytoplasm	cellular component	IEA	50
GO:0005515	protein binding	molecular function	IPI[15262991]	563
GO:0005200	structural constituent of cytoskeleton	molecular function	IEA	9
GO:0086066	atrial cardiac muscle cell to AV node cell communication	biological process	ISS	1
GO:0034394	protein localization to cell surface	biological process	ISS	2
GO:0051117	ATPase binding	molecular function	ISS	6
GO:0051928	positive regulation of calcium ion transport	biological process	ISS	9
GO:0072661	protein targeting to plasma membrane	biological process	IEA	3
GO:0031672	A band	cellular component	ISS	1
GO:0042383	sarcolemma	cellular component	ISS	12
GO:1901019	regulation of calcium ion transmembrane transporter activity	biological process	ISS[21859974]	1
GO:0014704	intercalated disc	cellular component	ISS	8
GO:0016324	apical plasma membrane	cellular component	IEA	24
GO:0030913	paranodal junction assembly	biological process	IEA	1
GO:0051279	regulation of release of sequestered calcium ion into cytosol	biological process	IGI[17242276]	3
GO:0030315	T-tubule	cellular component	ISS	8
GO:0010628	positive regulation of gene expression	biological process	IGI[17242276]	23
GO:0030018	Z disc	cellular component	ISS	16
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	biological process	IGI[17178715]; ISS[21859974]	4
GO:0033292	T-tubule organization	biological process	ISS	1
GO:0006874	cellular calcium ion homeostasis	biological process	ISS	16
GO:0070972	protein localization to endoplasmic reticulum	biological process	IGI[15178757]	2
GO:0060048	cardiac muscle contraction	biological process	IEA	5
GO:0005829	cytosol	cellular component	TAS	223
GO:0051924	regulation of calcium ion transport	biological process	IGI[12571597]	8
GO:1901018	positive regulation of potassium ion transmembrane transporter activity	biological process	ISS	2
GO:0086015	SA node cell action potential	biological process	ISS	2
GO:0015459	potassium channel regulator activity	molecular function	IEA	11
GO:0019901	protein kinase binding	molecular function	IPI[18782775]	29
GO:0005856	cytoskeleton	cellular component	IEA	30
GO:1901021	positive regulation of calcium ion transmembrane transporter activity	biological process	ISS	1
GO:0033365	protein localization to organelle	biological process	IGI[15178757]	1
GO:0098907	regulation of SA node cell action potential	biological process	IMP[12571597]	2
GO:0086036	regulation of cardiac muscle cell membrane potential	biological process	IEA	2
GO:0072659	protein localization to plasma membrane	biological process	IGI[17178715]; ISS	9
GO:0030507	spectrin binding	molecular function	IPI[15262991]	4
GO:0045121	membrane raft	cellular component	IEA	22
GO:0043005	neuron projection	cellular component	IEA	38
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	biological process	IMP[12571597]	3
GO:0051597	response to methylmercury	biological process	IEA	2
GO:0098910	regulation of atrial cardiac muscle cell action potential	biological process	IMP[12571597]	3
GO:0044325	ion channel binding	molecular function	IPI[20610380]; ISS	14
GO:0055117	regulation of cardiac muscle contraction	biological process	IMP[15178757]	6
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	biological process	IMP[18832177]	3
GO:0034613	cellular protein localization	biological process	IGI[15262991]	4
GO:0086004	regulation of cardiac muscle cell contraction	biological process	IGI[17242276]	5
GO:0031647	regulation of protein stability	biological process	IC[18832177]	5
GO:0036371	protein localization to T-tubule	biological process	ISS	1
GO:0036309	protein localization to M-band	biological process	ISS	1
GO:0086046	membrane depolarization during SA node cell action potential	biological process	TAS[19098452]	2
GO:0005622	intracellular	cellular component	IGI[17178715]	17
GO:0003283	atrial septum development	biological process	IMP[18832177]	2
GO:0050821	protein stabilization	biological process	ISS[17178715]	12
GO:0016323	basolateral plasma membrane	cellular component	IDA[15611082]	21
GO:0043034	costamere	cellular component	ISS	4
GO:2001259	positive regulation of cation channel activity	biological process	ISS	1
GO:0086014	atrial cardiac muscle cell action potential	biological process	IMP[17242276]	2
GO:0070296	sarcoplasmic reticulum calcium ion transport	biological process	TAS[19098452]	4
GO:0086070	SA node cell to atrial cardiac muscle cell communication	biological process	IMP[12571597]	1
GO:0031430	M band	cellular component	ISS	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ANK2	NRCAM	NO	in vitro	11449000
ANK2	L1CAM	NO	in vivo	9832558
ANK2	SPTBN1	NO	yeast 2-hybrid	15262991
ANK2	OBSCN	NO	in vitro	12527750
ANK2	SIGMAR1	NO	in vitro;in vivo	11149946
ANK2	DNAJB1	NO	in vitro;in vivo	15075330

Related other genetic factors

Gene related SNPs (count: 3)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs17045162	chr4:112963140 - 112963140(1)	intron_variant	1(0/1/0)

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs17045191		chr4:112969723 - 112969723(1)	intron_variant
rs17045209		chr4:112977023 - 112977023(1)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 4	chr4:0-190214555	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr4:112818109..113383740 View in gBrowse