AutismKB 2.0

Annotation Details for ANK2


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Basic Information Top
Gene Symbol:ANK2 ( DKFZp686M09125,DKFZp686P0948,FLJ38277,LQT4 )
Gene Full Name: ankyrin 2, neuronal
Band: 4q25-q26
Quick LinksEntrez ID:287; OMIM: 106410; Uniprot ID:ANK2_HUMAN; ENSEMBL ID: ENSG00000145362; HGNC ID: 493
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IGI-intracellular17178715
GO:0005829TAS-cytosol-
GO:0005856IEA-cytoskeleton-
GO:0005886ISS-plasma membrane-
GO:0014704ISS-intercalated disc-
GO:0016323IDA-basolateral plasma membrane15611082
GO:0016324IEA-apical plasma membrane-
GO:0030018ISS-Z disc-
GO:0030315ISS-T-tubule-
GO:0031430ISS-M band-
GO:0031672ISS-A band-
GO:0042383ISS-sarcolemma-
GO:0043005IEA-neuron projection-
GO:0043034IBA-costamere-
GO:0043034ISS-costamere-
GO:0045121IEA-membrane raft-
GO:0045211IEA-postsynaptic membrane-
GO ID Evidence Qualifier GO_term References
GO:0005200IEA-structural constituent of cytoskeleton-
GO:0005515IPI-protein binding15262991
GO:0019899IPI-enzyme binding21177872
GO:0019901IPI-protein kinase binding18782775
GO:0030507IPI-spectrin binding15262991
GO:0030674ISS-protein binding, bridging-
GO:0044325IPI-ion channel binding20610380
GO:0044325ISS-ion channel binding-
GO:0051117ISS-ATPase binding-
GO ID Evidence Qualifier GO_term References
GO:0002027IMP-regulation of heart rate18832177
GO:0003283IMP-atrial septum development18832177
GO:0006874ISS-cellular calcium ion homeostasis-
GO:0006888TAS-ER to Golgi vesicle-mediated transport-
GO:0007010IEA-cytoskeleton organization-
GO:0010628IGI-positive regulation of gene expression17242276
GO:0010881IGI-regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion17178715
GO:0010881ISS-regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion21859974
GO:0010882IMP-regulation of cardiac muscle contraction by calcium ion signaling12571597
GO:0030913IEA-paranodal junction assembly-
GO:0031647IC-regulation of protein stability18832177
GO:0033292ISS-T-tubule organization-
GO:0033365IGI-protein localization to organelle15178757
GO:0034394ISS-protein localization to cell surface-
GO:0034613IGI-cellular protein localization15262991
GO:0036309ISS-protein localization to M-band-
GO:0036371ISS-protein localization to T-tubule-
GO:0043268ISS-positive regulation of potassium ion transport-
GO:0050821ISS-protein stabilization17178715
GO:0051279IGI-regulation of release of sequestered calcium ion into cytosol17242276
GO:0051597IEA-response to methylmercury-
GO:0051924IGI-regulation of calcium ion transport12571597
GO:0051928ISS-positive regulation of calcium ion transport-
GO:0055117IMP-regulation of cardiac muscle contraction15178757
GO:0060307IMP-regulation of ventricular cardiac muscle cell membrane repolarization18832177
GO:0070296TAS-sarcoplasmic reticulum calcium ion transport19098452
GO:0070972IGI-protein localization to endoplasmic reticulum15178757
GO:0072659IGI-protein localization to plasma membrane17178715
GO:0072659ISS-protein localization to plasma membrane21859974
GO:0072661IBA-protein targeting to plasma membrane-
GO:0086004IGI-regulation of cardiac muscle cell contraction17242276
GO:0086005IMP-ventricular cardiac muscle cell action potential17242276
GO:0086014IMP-atrial cardiac muscle cell action potential17242276
GO:0086015ISS-SA node cell action potential-
GO:0086046TAS-membrane depolarization during SA node cell action potential19098452
GO:0086066ISS-atrial cardiac muscle cell to AV node cell communication-
GO:0086070IMP-SA node cell to atrial cardiac muscle cell communication12571597
GO:0086091IMP-regulation of heart rate by cardiac conduction12571597
GO:0086091ISS-regulation of heart rate by cardiac conduction-
GO:0098907IMP-regulation of SA node cell action potential12571597
GO:0098910IMP-regulation of atrial cardiac muscle cell action potential12571597
GO:1901018ISS-positive regulation of potassium ion transmembrane transporter activity-
GO:1901019ISS-regulation of calcium ion transmembrane transporter activity21859974
GO:1901021ISS-positive regulation of calcium ion transmembrane transporter activity-
GO:2001259ISS-positive regulation of cation channel activity-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EPB42ANK21083522968981 Reconstituted Complex
EPB42ANK21067842968981 Reconstituted Complex
SIGMAR1ANK211556911149946 Affinity Capture-Western
SIGMAR1ANK210678411149946 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
ANK2rs2279894, rs29340, rs362498 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:88025
  • Data Attributes: MGI curated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-041010-165'