ANKRD2 Gene Summary [Human]
This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Details
| Type | Protein Coding |
| Official Symbol | ANKRD2 |
| Official Name | ankyrin repeat domain 2 [Source:HGNC Symbol;Acc:HGNC:495] |
| Ensembl ID | ENSG00000165887 |
| Bio databases IDs | |
| Aliases | ankyrin repeat domain 2 |
| Synonyms | ankyrin repeat domain 2, ARPP |
| 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 ANKRD2 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 binding
- cytoskeletal protein binding
- Ankyrin repeats (3 copies)
- transcription factor binding
- chromatin binding
- 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
- dermatomyositis
- Huntington disease
- metabolic syndrome X
regulates
- cytokine
- RNA polymerase II
- DNA promoter
- DNA endogenous promoter
role in cell
- proliferation
- differentiation
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
- intracellular membrane-bounded organelle
- Cytoplasm
- sarcomere
- cytosol
- sarcoplasm
- myofibrils
- I band
- PML nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANKRD2 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
- muscle organ development
- negative regulation of myoblast differentiation
- muscle contraction
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- euchromatin
- PML body
- intracellular membrane-bounded organelle
- I band
- cytosol
Molecular Function
What the gene product does at the molecular level
- structural constituent of muscle
- protein binding
- protein kinase B binding