ANKLE2

Chr 12q24.33

ankyrin repeat and LEM domain containing 2

Aliases:: LEMD7, Lem4
MANE:: ENST00000357997.10

OMIM: 616062 ↗NCBI: 23141 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ANKLE2 · Q86XL3

v62025-08-01

Predicted Aligned Error matrix for ANKLE2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.1/ 100

Low

938 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)26%
Low(50–70)9%
Very low(< 50)42%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive primary microcephaly
0.79
neurodegenerative disease
0.46
microcephaly
0.42
hereditary disease
0.34
CACH syndrome
0.34
leukoencephalopathy with vanishing white matter
0.34
Hypotonia
0.34
Intellectual disability
0.34
Abnormality of the skeletal system
0.34
diabetes mellitus
0.17

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ankyrin repeat and LEM domain-containing protein 2

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)