ArticleJournal of molecular and cellular cardiology2008
Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease.
Article in Journal of molecular and cellular cardiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- Regulation of neuronal ankyrin localization and function by post-translational modifications.Biochemical Society transactions · 2025Review
- Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites.Neuron · 2024Article
- Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant.The Journal of biological chemistry · 2023Article
- Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town.Journal of pediatric genetics · 2022Article
- Obscurin regulates ankyrin macromolecular complex formation.Journal of molecular and cellular cardiology · 2022Article
- Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.Frontiers in cardiovascular medicine · 2022Review
- Understanding the Potential of Genome Editing in Parkinson's Disease.International journal of molecular sciences · 2021Review
- Cargo hold and delivery: Ankyrins, spectrins, and their functional patterning of neurons.Cytoskeleton (Hoboken, N.J.) · 2020Review
- Ankyrins in human health and disease - an update of recent experimental findings.Archives of medical science : AMS · 2020Article
- Alternative splicing isoforms in health and disease.Pflugers Archiv : European journal of physiology · 2018Review
- Thick Filament Protein Network, Functions, and Disease Association.Comprehensive Physiology · 2018Review
- The evolving role of ankyrin-B in cardiovascular disease.Heart rhythm · 2017Review
- sCLIP-an integrated platform to study RNA-protein interactomes in biomedical research: identification of CSTF2tau in alternative processing of small nuclear RNAs.Nucleic acids research · 2017Article
- Ankyrins and Spectrins in Cardiovascular Biology and Disease.Frontiers in physiology · 2017Review
- Identification and characterization of two ankyrin-B isoforms in mammalian heart.Cardiovascular research · 2015Article
- Single-molecule FRET reveals hidden complexity in a protein energy landscape.Structure (London, England : 1993) · 2015Article
- Article
- Glial ankyrins facilitate paranodal axoglial junction assembly.Nature neuroscience · 2014Article
- A single divergent exon inhibits ankyrin-B association with the plasma membrane.The Journal of biological chemistry · 2013Article
- Increased complexity of Tmem16a/Anoctamin 1 transcript alternative splicing.BMC molecular biology · 2011Article
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4 authors at 3 institutions in 2 countries.
Funding
Abstract
Recent findings illustrate a critical role for ankyrin-B function in normal cardiovascular physiology. Specifically, decreased expression of ankyrin-B in mice or human mutations in the ankyrin-B gene (ANK2) results in potentially fatal cardiac arrhythmias. Despite the clear role of ankyrin-B in heart, the mechanisms underlying transcriptional regulation of ANK2 are unknown. In fact, to date there is no description of ANK2 genomic organization. The aims of this study were to provide a comprehensive description of the ANK2 gene and to evaluate the relative expression of alternative splicing events associated with ANK2 transcription in heart. Using reverse-transcriptase PCR on mRNA isolated from human hearts, we identify seven new exons associated with the ANK2 gene including an alternative first exon located approximately 145 kb upstream of the previously-identified first exon. In addition, we identify over thirty alternative splicing events associated with ANK2 mRNA transcripts. Using real-time PCR and exon boundary-spanning primers to selectively amplify these splice variants, we demonstrate that these variants are expressed at varying levels in human heart. Finally, ankyrin-B immunoblot analysis demonstrates the expression of a heterogeneous population of ankyrin-B polypeptides in heart. ANK2 consists of 53 exons that span approximately 560 kb on human chromosome 4. Additionally, our data demonstrates that ANK2 is subject to complex transcriptional regulation that likely results in differential ankyrin-B polypeptide function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.