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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ANKLE2
ankyrin repeat and LEM domain containing 2
Chromosome 12 Β· 12q24.33
NCBI Gene: 23141Ensembl: ENSG00000176915.15HGNC: HGNC:29101UniProt: Q86XL3
84PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulummembranenegative regulation of apoptotic processendoplasmic reticulum membraneautosomal recessive primary microcephalyneurodegenerative diseasemicrocephalygenetic disorder
✦AI Summary

ANKLE2 is a scaffolding protein with dual roles in cell division and neural development. During mitosis, ANKLE2 coordinates nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 through inhibition of VRK1 kinase and recruitment of protein phosphatase 2A (PP2A) 1. Structural and functional evidence suggests ANKLE2 functions as a regulatory subunit of PP2A and localizes to the reassembling nuclear envelope via interaction with ER protein Vap33 2. In neural progenitor cells, ANKLE2 is essential for asymmetric cell division by regulating Par complex function and ER/nuclear envelope morphology; loss of ANKLE2 disrupts spindle alignment and reduces progenitor cell numbers 3. Pathogenic loss-of-function mutations in ANKLE2 cause primary congenital microcephaly (MCPH16), characterized by reduced brain volume, simplified cortical gyration, callosal abnormalities, and developmental delays 4. Additionally, Zika virus NS4A protein specifically targets ANKLE2, hijacking it to promote viral replication while simultaneously causing microcephaly through disruption of developing neural tissues 56. ANKLE2 dysfunction is also linked to tauopathy and cancer, highlighting its broader disease relevance beyond microcephaly.

Sources cited
1
ANKLE2 promotes BAF/BANF1 dephosphorylation by inhibiting VRK1 and recruiting PP2A during mitotic nuclear envelope reassembly
PMID: 22770216
2
ANKLE2 functions as a regulatory subunit of PP2A and interacts with ER protein Vap33 for localization during post-mitotic nuclear reassembly
PMID: 39964262
3
ANKLE2 loss disrupts Par complex function, ER/nuclear envelope morphology, and asymmetric division of neural progenitor cells
PMID: 31735666
4
ANKLE2 mutations cause congenital microcephaly with brain structural abnormalities and developmental delays
PMID: 35871307
5
Zika virus NS4A interacts with ANKLE2 and causes microcephaly in an ANKLE2-dependent manner
PMID: 30550790
6
ANKLE2 promotes Zika virus replication by regulating virus-induced ER membrane rearrangements and is hijacked by multiple orthoflaviruses
PMID: 39804047
7
ANKLE2 dysfunction is associated with primary congenital microcephaly, congenital Zika syndrome, cancer, and tauopathy
PMID: 38691001
Disease Associationsβ“˜21
autosomal recessive primary microcephalyOpen Targets
0.78Strong
neurodegenerative diseaseOpen Targets
0.46Moderate
microcephalyOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.34Weak
CACH syndromeOpen Targets
0.34Weak
HypotoniaOpen Targets
0.34Weak
Intellectual disabilityOpen Targets
0.34Weak
leukoencephalopathy with vanishing white matterOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.16Weak
congenital anomaly of cardiovascular systemOpen Targets
0.12Weak
breast cancerOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
exudative vitreoretinopathy 2, X-linkedOpen Targets
0.03Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
infectionOpen Targets
0.02Suggestive
Microcephaly 16, primary, autosomal recessiveUniProt
Pathogenic Variants8
NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter)Pathogenic
Intellectual disability;Vanishing white matter disease;Hypotonia|Microcephaly 16, primary, autosomal recessive
β˜…β˜…β˜†β˜†2024β†’ Residue 624
NM_015114.3(ANKLE2):c.941G>A (p.Arg314Gln)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 314
NM_015114.3(ANKLE2):c.1701-2A>GLikely pathogenic
not provided|Papillary renal cell carcinoma type 1
β˜…β˜†β˜†β˜†2024
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp)Likely pathogenic
Microcephaly 16, primary, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 201
NM_015114.3(ANKLE2):c.2495C>G (p.Ser832Ter)Likely pathogenic
Microcephaly 16, primary, autosomal recessive
β˜…β˜†β˜†β˜†2023β†’ Residue 832
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val)Likely pathogenic
Microcephaly 16, primary, autosomal recessive|Microcephaly
β˜…β˜†β˜†β˜†2014β†’ Residue 573
NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)Pathogenic
Microcephaly 16, primary, autosomal recessive
β˜†β˜†β˜†β˜†2023β†’ Residue 236
NM_015114.3(ANKLE2):c.1891+1701_2615+14delinsAPathogenic
Microcephaly 16, primary, autosomal recessive
β˜†β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
PPP2R1AProtein interaction100%PPP2R2AProtein interaction100%PPP2CAProtein interaction99%EMDProtein interaction92%VRK1Protein interaction92%BANF1Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
69%
Ovary
61%
Brain
43%
Heart
40%
Liver
38%
Gene Interaction Network
Click a node to explore
ANKLE2PPP2R1APPP2R2APPP2CAEMDVRK1BANF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86XL3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.53–0.82]
RankingsWhere ANKLE2 stands among ~20K protein-coding genes
  • #5,653of 20,598
    Most Researched84
  • #3,062of 5,498
    Most Pathogenic Variants8
  • #7,011of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedANKLE2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular functions of ANKLE2 and its implications in human disease.
PMID: 38691001
Dis Model Mech Β· 2024
1.00
2
Genomic and phenotypic delineation of congenital microcephaly.
PMID: 30214071
Genet Med Β· 2019
0.90
3
Comparative Flavivirus-Host Protein Interaction Mapping Reveals Mechanisms of Dengue and Zika Virus Pathogenesis.
PMID: 30550790
Cell Β· 2018
0.80
4
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
PMID: 35871307
Ann Clin Transl Neurol Β· 2022
0.70
5
Ankle2 deficiency-associated microcephaly and spermatogenesis defects in zebrafish are alleviated by heterozygous deletion of vrk1.
PMID: 35940133
Biochem Biophys Res Commun Β· 2022
0.60