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. Author manuscript; available in PMC: 2020 Jul 30.
Published in final edited form as: J Am Coll Cardiol. 2019 Jul 30;74(4):567–577. doi: 10.1016/j.jacc.2019.06.007

Table 2:

Genes commonly mutated in CHIP

Gene Name Description
TET2 Ten-eleven-translocation-2 A methylcytosine dioxygenase that catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine. An epigenetic regulator that can activate or repress transcription.
DNMT3A DNA methyltransferase 3A A de novo DNA methyltransferase.
ASXL1 Additional sex combs-like 1 Polycomb chromatin-binding protein that is involve in the transcriptional regulation of Hox genes.
PPMD1 Protein phosphatase, magnesium/manganese-dependant 1D Protein phosphatase involved in dephosphorylating and inactivating proteins in the DNA damage response pathway.
SF3B1 Splicing factor 3B, subunit 1 A component of the U2 small nuclear riboprotein that binds to the 3’ branch site in pre-mRNA splicing and processing.
SRSF2 Serine/Arginine rich splicing factor 2 Required for 5’ and 3’ spliceosome assembly, splice-site selection, U1 and U2 snRNP interactions with pre-mRNA, and alternative splicing.
TP53 Transformation-related protein 53 Tumor suppressor transcription factor that responds to cellular stress and DNA damage.
JAK2 Janus kinase 2 Receptor tyrosine kinase involved in hematopoietic cytokine signalling and myelopoiesis.