KANK2 Gene Summary [Human]
This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | KANK2 |
| Official Name | KN motif and ankyrin repeat domains 2 [Source:HGNC Symbol;Acc:HGNC:29300] |
| Ensembl ID | ENSG00000197256 |
| Bio databases IDs | |
| Aliases | KN motif and ankyrin repeat domains 2 |
| Synonyms | ANKRD25, DKFZp434N161, KN motif and ankyrin repeat domains 2, MXRA3, NPHS16, PPKWH, RGD1563532, SIP |
| 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 KANK2 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)
- KN motif
- Ankyrin repeats (3 copies)
- protein binding
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- primary central nervous system lymphoma
- primary cancer
- lymphomagenesis
- central nervous system cancer
- early onset hypertension
- open-angle glaucoma
- coronary artery disease
- palmoplantar keratoderma and woolly hair
- nephrotic syndrome type 16
- preeclampsia
role in cell
- proliferation
- binding in
- apoptosis
- assembly
- migration
- homologous recombination in
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
- Cytoplasm
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KANK2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- regulation of Rho protein signal transduction
- negative regulation of actin filament polymerization
- negative regulation of vitamin D receptor signaling pathway
- negative regulation of cell proliferation
- apoptotic process
- negative regulation of intracellular estrogen receptor signaling pathway
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of programmed cell death
- kidney epithelium development
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding