InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANK2

Summary

InnateDB Protein

IDBP-241330.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ANK2

Protein Name

ankyrin 2, neuronal

Synonyms

ANK-2; brank-2; LQT4;

Species

Homo sapiens

Ensembl Protein

ENSP00000378044

InnateDB Gene

IDBG-34685 (ANK2)

Protein Structure

UniProt Annotation

Function

In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate. {ECO:0000250, ECO:0000269PubMed:12571597}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:19007774}. Membrane {ECO:0000269PubMed:19007774}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000250}. Apical cell membrane {ECO:0000250}. Cell membrane {ECO:0000269PubMed:19007774}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=Expressed at the apical membrane of airway lung epithelial cells (By similarity). Localized to the plasma membrane of the inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distict intracellular compartment of neonatal cardiomyocytes (By similarity). In skeletal muscle, localizes to neuromuscular junctions (By similarity). {ECO:0000250}.

Disease Associations

Long QT syndrome 4 (LQT4) [MIM:600919]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. {ECO:0000269PubMed:12571597, ECO:0000269PubMed:15178757}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed in fetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors in retina. {ECO:0000269PubMed:1830053, ECO:0000269PubMed:1833308, ECO:0000269PubMed:19007774}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019899	enzyme binding
GO:0019901	protein kinase binding
GO:0030507	spectrin binding
GO:0030674	protein binding, bridging
GO:0044325	ion channel binding
GO:0051117	ATPase binding

Biological Process

GO:0002027	regulation of heart rate
GO:0003283	atrial septum development
GO:0006874	cellular calcium ion homeostasis
GO:0007165	signal transduction
GO:0007411	axon guidance
GO:0010628	positive regulation of gene expression
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling
GO:0031647	regulation of protein stability
GO:0033292	T-tubule organization
GO:0033365	protein localization to organelle
GO:0034394	protein localization to cell surface
GO:0034613	cellular protein localization
GO:0036309	protein localization to M-band
GO:0036371	protein localization to T-tubule
GO:0043268	positive regulation of potassium ion transport
GO:0050821	protein stabilization
GO:0051279	regulation of release of sequestered calcium ion into cytosol
GO:0051924	regulation of calcium ion transport
GO:0051928	positive regulation of calcium ion transport
GO:0055117	regulation of cardiac muscle contraction
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0070296	sarcoplasmic reticulum calcium ion transport
GO:0070972	protein localization to endoplasmic reticulum
GO:0072659	protein localization to plasma membrane
GO:0086004	regulation of cardiac muscle cell contraction
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086014	atrial cardiac muscle cell action potential
GO:0086015	SA node cell action potential
GO:0086046	membrane depolarization involved in regulation of SA node cell action potential
GO:0086066	atrial cardiac muscle cell to AV node cell communication
GO:0086070	SA node cell to atrial cardiac muscle cell communication
GO:0086091	regulation of heart rate by cardiac conduction
GO:1901018	positive regulation of potassium ion transmembrane transporter activity
GO:1901019	regulation of calcium ion transmembrane transporter activity
GO:1901021	positive regulation of calcium ion transmembrane transporter activity
GO:2001259	positive regulation of cation channel activity

Cellular Component

GO:0005622	intracellular
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0014704	intercalated disc
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0030018	Z disc
GO:0030315	T-tubule
GO:0031430	M band
GO:0031672	A band
GO:0042383	sarcolemma
GO:0043034	costamere
GO:0045211	postsynaptic membrane