Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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ankyrin 2(ANK2) ankyrin 2(ANK2) Related Genes Homo sapiens
CYTOBAND 4q25-q27,
GENERIF_SUMMARY The ankyrin-B C-terminal domain determines activity of ankyrin-B/G chimeras, Loss-of-function (E1425G) mutation in ankyrin-B (also known as ankyrin 2), a member of a family of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia in humans, Data show that L1-cell adhesion molecule interactions with ankyrinB (but not with ankyrinG) are involved in the initial formation of neurites., An amphipathic alpha-helix in the divergent regulatory domain of ankyrin-b interacts with the molecular co-chaperone Hdj1/Hsp40., interaction between members of the ankyrin and beta-spectrin families previously established in erythrocytes and axon initial segments also occurs in neonatal cardiomyocytes with ankyrin-B and beta(2)-spectrin, Quantitative analysis of erythrocyte membrane proteins revealed increase in ankyrin from patients with homozygous and heterozygous forms of beta-thalassemia., Genotype-negative LQTS patients with a single ANK2 variant displayed nonexertional syncope, U waves, sinus bradycardia, and extracardiac findings., study identified T to A transition mutation at position 4,603 in exon 40 resulting in substitution of arginine for tryptophan at amino acid residue 1,535 in regulatory domain of ankyrin-B; this novel mutation may be a cause of type 4 long QT syndrome, Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with torsades de pointes., role of ankyrin-B-dependent protein interactions in regulating cardiac electrogenesis, Ankyrin-B has a role in cardiac function, cardiac death and premature senescence, ANK2 mutations were not found to directly cause long QT syndrome., the ankyrin-binding site is located on the cytoplasmic face of the InsP(3) receptor, thus validating the feasibility of in vivo ankyrin-InsP(3) receptor interactions., Ankyrin B modulates the function of Na,K-ATPase/inositol 1,4,5-trisphosphate receptor signaling microdomain, ANK2 is subject to alternative splicing that gives rise to unique polypeptides with diverse roles in cardiac function., Exon organization and novel alternative splicing of the human ANK2 gene, dysfunction in AnkB-based trafficking pathways causes abnormal sinoatrial node (SAN) electrical activity and sinus node dysfunction., The common genetic variation in the ANK2 gene is modified the physiological variability of the QT interval in the general population., This protein has been found differentially expressed in thalami from patients with schizophrenia., Data show that DAnk2-binding is critical for beta spectrin function in vivo., Reduced ankyrin-B expression or mutations in ankyrin 2 are associated with atrial fibrillation., Ankyrin-B protein in heart failure, Residues 63-73 of cdB3 is also essential for ankyrin binding., Gankyrin plays an essential role in estrogen-driven and GPR30-mediated endometrial carcinoma cell proliferation via the PTEN/PI3K/AKT signaling pathway., ankyrin-B linker suppresses activity of the ANK repeat domain through an intramolecular interaction, likely with a groove on the surface of the ANK repeat solenoid, thereby regulating the affinities between ankyrin-B and its binding partners, the structures of ANK repeats in complex with an inhibitory segment from the C-terminal regulatory domain and with a sodium channel Nav1.2 peptide, are reported., The identification and characterization of two functionally distinct ankyrin-B isoforms in heart provide compelling evidence that alternative splicing of the ANK2 gene regulates the fidelity of ankyrin-B interactions with proteins,
OMIM_DISEASE Cardiac arrhythmia, ankyrin-B-related, Long QT syndrome 4,
SP_COMMENT disease:Defects in ANK2 are the cause of long QT syndrome type 4 (LQT4) [MIM:600919]; also known as sick sinus syndrome with bradycardia. Long QT syndromes are heart disorders 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. LQT4 displays 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., function: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., online information:Ankyrin entry, PTM:Phosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the protein's structure and function ., sequence caution:CDS lacks C-terminal region which is nevertheless present in the underlying cDNA., similarity:Contains 1 death domain., similarity:Contains 1 ZU5 domain., similarity:Contains 24 ANK repeats., subcellular location: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., subunit:Interacts with RHBG and SPTBN1., 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.,