ANK2
Summary: This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ankyrin 2 | MIM:106410 | Ensembl:ENSG00000145362 | HGNC:HGNC:493 | PA24799 | 4q25-q26 |
GO terms in ANK2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005200 | structural constituent of cytoskeleton |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | IPI | GO:0030507 | spectrin binding |
| MF | ISS | GO:0030674 | protein binding, bridging |
| MF | IBA | GO:0044325 | ion channel binding |
| MF | IPI | GO:0044325 | ion channel binding |
| MF | ISS | GO:0044325 | ion channel binding |
| MF | ISS | GO:0051117 | ATPase binding |
| BP | IMP | GO:0002027 | regulation of heart rate |
| BP | IMP | GO:0003283 | atrial septum development |
| BP | ISS | GO:0006874 | cellular calcium ion homeostasis |
| BP | TAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | IEA | GO:0006897 | endocytosis |
| BP | IEA | GO:0007010 | cytoskeleton organization |
| BP | IGI | GO:0010628 | positive regulation of gene expression |
| BP | IGI | GO:0010881 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion |
| BP | ISS | GO:0010881 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion |
| BP | IMP | GO:0010882 | regulation of cardiac muscle contraction by calcium ion signaling |
| BP | IEA | GO:0015031 | protein transport |
| BP | IEA | GO:0030913 | paranodal junction assembly |
| BP | IC | GO:0031647 | regulation of protein stability |
| BP | ISS | GO:0033292 | T-tubule organization |
| BP | IGI | GO:0033365 | protein localization to organelle |
| BP | ISS | GO:0034394 | protein localization to cell surface |
| BP | IGI | GO:0034613 | cellular protein localization |
| BP | ISS | GO:0036309 | protein localization to M-band |
| BP | ISS | GO:0036371 | protein localization to T-tubule |
| BP | ISS | GO:0043268 | positive regulation of potassium ion transport |
| BP | IBA | GO:0050808 | synapse organization |
| BP | ISS | GO:0050821 | protein stabilization |
| BP | IGI | GO:0051279 | regulation of release of sequestered calcium ion into cytosol |
| BP | IEA | GO:0051597 | response to methylmercury |
| BP | IGI | GO:0051924 | regulation of calcium ion transport |
| BP | ISS | GO:0051928 | positive regulation of calcium ion transport |
| BP | IMP | GO:0055117 | regulation of cardiac muscle contraction |
| BP | IMP | GO:0060307 | regulation of ventricular cardiac muscle cell membrane repolarization |
| BP | TAS | GO:0070296 | sarcoplasmic reticulum calcium ion transport |
| BP | IGI | GO:0070972 | protein localization to endoplasmic reticulum |
| BP | IBA | GO:0072659 | protein localization to plasma membrane |
| BP | IGI | GO:0072659 | protein localization to plasma membrane |
| BP | ISS | GO:0072659 | protein localization to plasma membrane |
| BP | IGI | GO:0086004 | regulation of cardiac muscle cell contraction |
| BP | IMP | GO:0086005 | ventricular cardiac muscle cell action potential |
| BP | IMP | GO:0086014 | atrial cardiac muscle cell action potential |
| BP | ISS | GO:0086015 | SA node cell action potential |
| BP | TAS | GO:0086046 | membrane depolarization during SA node cell action potential |
| BP | ISS | GO:0086066 | atrial cardiac muscle cell to AV node cell communication |
| BP | IMP | GO:0086070 | SA node cell to atrial cardiac muscle cell communication |
| BP | IMP | GO:0086091 | regulation of heart rate by cardiac conduction |
| BP | ISS | GO:0086091 | regulation of heart rate by cardiac conduction |
| BP | IMP | GO:0098907 | regulation of SA node cell action potential |
| BP | IMP | GO:0098910 | regulation of atrial cardiac muscle cell action potential |
| BP | IBA | GO:0099612 | protein localization to axon |
| BP | ISS | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity |
| BP | ISS | GO:1901019 | regulation of calcium ion transmembrane transporter activity |
| BP | ISS | GO:1901021 | positive regulation of calcium ion transmembrane transporter activity |
| BP | ISS | GO:2001259 | positive regulation of cation channel activity |
| CC | IGI | GO:0005622 | intracellular |
| CC | IEA | GO:0005739 | mitochondrion |
| CC | IEA | GO:0005764 | lysosome |
| CC | IEA | GO:0005769 | early endosome |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0005856 | cytoskeleton |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0014704 | intercalated disc |
| CC | ISS | GO:0014704 | intercalated disc |
| CC | IBA | GO:0016020 | membrane |
| CC | IDA | GO:0016323 | basolateral plasma membrane |
| CC | IEA | GO:0016324 | apical plasma membrane |
| CC | ISS | GO:0030018 | Z disc |
| CC | ISS | GO:0030315 | T-tubule |
| CC | ISS | GO:0031430 | M band |
| CC | ISS | GO:0031672 | A band |
| CC | IBA | GO:0033268 | node of Ranvier |
| CC | IBA | GO:0033270 | paranode region of axon |
| CC | ISS | GO:0042383 | sarcolemma |
| CC | IEA | GO:0043005 | neuron projection |
| CC | ISS | GO:0043034 | costamere |
| CC | IBA | GO:0043194 | axon initial segment |
| CC | IEA | GO:0045121 | membrane raft |
| CC | IBA | GO:0045202 | synapse |
| CC | IEA | GO:0045211 | postsynaptic membrane |
| CC | IEA | GO:0055037 | recycling endosome |
Gene expression in normal tissue: ANK2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ANK2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6807878 | COPI-mediated anterograde transport |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
| pharmgkb | PA2033 | Antiarrhythmic Pathway, Pharmacodynamics |
| kegg | hsa05205 | Proteoglycans in cancer - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ANK2
CLASSFICATION
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