ERC2 Gene Summary [Human]
This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Details
| Type | Processed Transcript |
| Official Symbol | ERC2 |
| Official Name | ELKS/RAB6-interacting/CAST family member 2 [Source:HGNC Symbol;Acc:HGNC:31922] |
| Ensembl ID | ENSG00000187672 |
| Bio databases IDs | |
| Aliases | ELKS/RAB6-interacting/CAST family member 2 |
| Synonyms | CAST, CAST1, CAST1/ERC2, Cmbp, D14Ertd171e, ELKS2, ELKS2alpha, ELKSL, ELKS/RAB6-interacting/CAST family member 2, LOC100360615, LOC100911736, SPBC110, Spc110 |
| 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 ERC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mitotic checkpoint protein
- Crescentin protein
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Weak chloroplast movement under blue light
- Ciliary protein causing Leber congenital amaurosis disease
- Domain of unknown function (DUF4618)
- Synaptonemal complex protein 1 (SCP-1)
- Myosin tail
- helix-rich Mycoplasma protein
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- PDZ-domain binding
- Alpha helical coiled-coil rod protein (HCR)
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- RIM-binding protein of the cytomatrix active zone
- binding protein
- Growth-arrest specific micro-tubule binding
- Coiled-coil domain-containing protein 158
- PDZ binding motif
- structural molecule
- HOOK protein coiled-coil region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
- schizophrenia
- periodontitis
- Alzheimer disease
- alcoholism
- acute lymphoblastic leukemia
- febrile seizure
- inguinal hernia
- gastroesophageal reflux
- diaphragmatic hernia
role in cell
- size
- abnormal morphology
- abnormal quantity
- activity
- synaptic transmission
- sprouting
- priming
- transmission
- contrast sensitivity
- electrophysiology
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
- synaptic plasma membrane fractions
- detergent-insoluble fractions
- membrane fraction
- glutaminergic synapse
- proximal axon
- Golgi Apparatus
- presynaptic membrane
- growth cone
- synapse
- perikaryon
- axon terminals
- presynaptic terminals
- ribbon synapse
- axonal shafts
- synaptosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic vesicle priming
- maintenance of presynaptic active zone structure
- neuromuscular synaptic transmission
- regulation of synaptic plasticity
Cellular Component
Where in the cell the gene product is active
- growth cone
- presynaptic membrane
- presynaptic active zone
- presynaptic cytoskeletal matrix assembled at active zones
Molecular Function
What the gene product does at the molecular level
- protein binding