Aliases for ANKLE2 Gene
External Ids for ANKLE2 Gene
Previous HGNC Symbols for ANKLE2 Gene
Previous GeneCards Identifiers for ANKLE2 Gene
This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]
GeneCards Summary for ANKLE2 Gene
ANKLE2 (Ankyrin Repeat And LEM Domain Containing 2) is a Protein Coding gene. Diseases associated with ANKLE2 include Microcephaly 16, Primary, Autosomal Recessive and Hypotonia. Among its related pathways are Nuclear Envelope Reassembly and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include protein phosphatase 2A binding.
UniProtKB/Swiss-Prot Summary for ANKLE2 Gene
Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit (PubMed:22770216). Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly (PubMed:22770216). May regulate nuclear localization of VRK1 in non-dividing cells (PubMed:31735666). It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex (PubMed:22770216). Involved in brain development (PubMed:25259927).