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MGP000149

UniProt Annotations

Entry Information
Gene Nameankyrin 2, neuronal
Protein EntryANK2_HUMAN
UniProt IDQ01484
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=3; IsoId=Q01484-4; Sequence=Displayed; Name=2; IsoId=Q01484-2; Sequence=VSP_000268; Name=4; IsoId=Q01484-5; Sequence=VSP_037058, VSP_037059, VSP_000268; Note=No experimental confirmation available.; Name=5; IsoId=Q01484-7; Sequence=VSP_037057, VSP_000268, VSP_037060;
DiseaseLong 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:0000269|PubMed:12571597, ECO:0000269|PubMed:15178757}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than binding to spectrin. {ECO:0000269|PubMed:22411828}.
FunctionIn 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:0000269|PubMed:12571597}.
InteractionP11532-5:DMD; NbExp=2; IntAct=EBI-941975, EBI-1018651; P62993:GRB2; NbExp=2; IntAct=EBI-941975, EBI-401755;
PtmPhosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the protein's structure and function. {ECO:0000305}.
Sequence CautionSequence=AAI25237.1; Type=Frameshift; Positions=1405; Evidence={ECO:0000305}; Sequence=CAB42644.1; Type=Miscellaneous discrepancy; Note=CDS lacks C-terminal region which is nevertheless present in the underlying cDNA.; Evidence={ECO:0000305};
SimilarityContains 24 ANK repeats. {ECO:0000255|PROSITE- ProRule:PRU00023}.
SimilarityContains 2 death domains. {ECO:0000255|PROSITE- ProRule:PRU00064}.
SimilarityContains 2 ZU5 domains. {ECO:0000255|PROSITE- ProRule:PRU00485}.
Subcellular LocationCytoplasm, cytoskeleton {ECO:0000269|PubMed:19007774}. Membrane {ECO:0000269|PubMed:19007774}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000250}. Apical cell membrane {ECO:0000250}. Cell membrane {ECO:0000269|PubMed: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}.
SubunitDirectly interacts with DMD; this interaction is necessary for DMD localization at the sarcolemma. Interacts with DCTN4; this interaction is required for DCTN4 retention at costameres (By similarity). Interacts with RHBG and SPTBN1. {ECO:0000250, ECO:0000269|PubMed:15262991, ECO:0000269|PubMed:15611082, ECO:0000269|PubMed:19007774}.
Tissue SpecificityPresent 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:0000269|PubMed:1830053, ECO:0000269|PubMed:1833308, ECO:0000269|PubMed:19007774}.
Web ResourceName=Wikipedia; Note=Ankyrin entry; URL="http://en.wikipedia.org/wiki/Ankyrin";
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