EFHC2 Gene Summary [Human]
This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]
Details
| Type | Processed Transcript |
| Official Symbol | EFHC2 |
| Official Name | EF-hand domain containing 2 [Source:HGNC Symbol;Acc:HGNC:26233] |
| Ensembl ID | ENSG00000183690 |
| Bio databases IDs | |
| Aliases | EF-hand domain containing 2 |
| Synonyms | 4933407D04Rik, dJ1158H2.1, EF-hand domain containing 2, EF-hand domain (C-terminal) containing 2, mRib72-2, MRX74, RGD1563388 |
| 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 EFHC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DM10 domain
- protein binding
- Domains in hypothetical proteins in Drosophila, C
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- basal bodies
- axonemes
- sperm tail
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EFHC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of neuron projection development
Cellular Component
Where in the cell the gene product is active
- axonemal microtubule
- cilium basal body
- microtubule
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding