ANKLE2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ANKLE2 |
| Official Name | ankyrin repeat and LEM domain containing 2 [Source:HGNC Symbol;Acc:HGNC:29101] |
| Ensembl ID | ENSG00000176915 |
| Bio databases IDs | |
| Aliases | ankyrin repeat and LEM domain containing 2, LEM domain containing 7, LEM-domain protein 4 |
| Synonyms | 1110001J12Rik, Ab2-034, ankyrin repeat and LEM domain containing 2, D5Ertd585e, KIAA0692, Lem4, LEMD7, MCPH16, RGD1310191 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ANKLE2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- Ankyrin repeats (many copies)
- protein kinase inhibitor activity
- protein phosphatase binding
- Ankyrin repeats (3 copies)
- protein phosphatase regulator
- LEM
- protein binding
- Caulimovirus viroplasmin
- LEM domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- schizophrenia
- autosomal recessive primary microcephaly type 16
- microcephaly
- myopia
- COVID-19
- diffuse large B-cell lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
role in cell
- apoptosis
- reassembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANKLE2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- mitotic nuclear envelope reassembly
- central nervous system development
- negative regulation of apoptotic process
- regulation of catalytic activity
- positive regulation of protein dephosphorylation
- negative regulation of phosphorylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein phosphatase 2A binding
- protein phosphatase regulator activity