ANKLE2 gene

ankyrin repeat and LEM domain containing 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. 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. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development (PubMed:25259927).

From NCBI Gene:

  • Microcephaly 16, primary, autosomal recessive

From UniProt:

Microcephaly 16, primary, autosomal recessive (MCPH16): A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. [MIM:616681]

Cytogenetic Location: 12q24.33, which is the long (q) arm of chromosome 12 at position 24.33

Molecular Location: base pairs 132,725,667 to 132,761,888 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q24.33, which is the long (q) arm of chromosome 12 at position 24.33
  • KIAA0692
  • Lem4
  • LEMD7
  • MCPH16