ANKLE2 ankyrin repeat and LEM domain containing 2
Gene ID: 23141, updated on 14-Nov-2024Gene type: protein coding
Also known as: Lem4; LEMD7; MCPH16; KIAA0692
Summary
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]
Associated conditions
| Description | Tests |
|---|---|
| Genome-wide association study of antibody response to smallpox vaccine. GeneReviews: Not available | |
| Microcephaly 16, primary, autosomal recessive | not available |
Genomic context
- Location:
- 12q24.33
- Sequence:
- Chromosome: 12; NC_000012.12 (132725503..132761832, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for ANKLE2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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