ERC2 Gene - ELKS/RAB6-Interacting/CAST Family Member 2
Comprehensive genomic and functional overview of ERC2, a key regulator of neurotransmitter release and synaptic vesicle docking.
Gene Information Card
| Symbol | ERC2 |
|---|---|
| Full Name | ELKS/RAB6-Interacting/CAST Family Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 26059 ncbi.nlm.nih.gov/gene/26059 |
| Ensembl ID | ENSG00000114491 |
| UniProt ID | Q5T9S5 |
| OMIM ID | 609651 |
| HGNC ID | 25510 |
| Aliases | CAST2, ELKS2, RAB6IP2 |
Description
ERC2 (ELKS/RAB6-Interacting/CAST Family Member 2) encodes a protein that localizes to the active zone of presynaptic nerve terminals. It interacts with RAB6 and other active zone proteins to regulate neurotransmitter release, synaptic vesicle docking, and calcium channel clustering. The gene is primarily expressed in brain tissues and is implicated in synaptic plasticity and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual Disability | Disruption of ERC2 may impair synaptic vesicle release and neuronal communication, contributing to cognitive deficits. | ClinVar; PMID: 25356899 |
| Autism Spectrum Disorder | Rare variants in ERC2 have been identified in ASD cohorts, suggesting a role in synaptic dysfunction. | ClinVar; PMID: 25356899 |
| Epilepsy | Altered ERC2 expression or function may affect neuronal excitability and seizure susceptibility. | ClinVar; PMID: 25356899 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 15.2 | High |
| Brain (cerebellum) | 12.8 | High |
| Testis | 2.1 | Low |
| Heart | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.5 | Neuronal lineage, high expression |
| U-87 MG (glioblastoma) | 6.2 | Glial lineage, moderate expression |
| HEK293 (embryonic kidney) | 0.4 | Low expression, non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay |
| c.1543G>A (p.Gly515Ser) | Missense | Rare | Unknown; may affect protein stability or interactions |
| c.2015_2016del (p.Val672Alafs*12) | Frameshift | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg358*, p.Val672Alafs*12) are predicted to result in loss of protein function via truncation or nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ERC2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ERC2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-112315)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
• RAB6-mediated vesicle transport (Reactome: R-HSA-8873719)
Protein Summary
The ERC2 protein (UniProt Q5T9S5) is a 110 kDa active zone component that contains a coiled-coil domain and a C-terminal PDZ-binding motif. It forms complexes with RAB6, CAST, and other presynaptic proteins to tether synaptic vesicles at the active zone and regulate calcium-dependent neurotransmitter release. ERC2 is essential for normal synaptic transmission and plasticity in the central nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERC2 Knockout HEK293 Cell Line | EDJ-KQ8378 | Human | 26059 | Details Get a Quote |
| ERC2 Knockout HeLa Cell Line | EDJ-KQ55877 | Human | 26059 | Details Get a Quote |
| ERC2 Knockout A-549 Cell Line | EDJ-KQ64367 | Human | 26059 | Details Get a Quote |
| ERC2 Knockout HCT 116 Cell Line | EDJ-KQ72818 | Human | 26059 | Details Get a Quote |
