EFHC2 Gene - EF-Hand Domain Containing 2
A calcium-binding protein gene implicated in epilepsy and neuronal development
Gene Information Card
| Symbol | EFHC2 |
|---|---|
| Full Name | EF-Hand Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 80258 ncbi.nlm.nih.gov/gene/80258 |
| Ensembl ID | ENSG00000183690 |
| UniProt ID | Q5JST6 |
| OMIM ID | 300817 |
| HGNC ID | 26218 |
| Aliases | EFC2, EF-hand domain-containing protein 2 |
Description
EFHC2 encodes a protein containing an EF-hand domain, which is a calcium-binding motif. The protein is involved in calcium signaling and neuronal development. Mutations in EFHC2 have been associated with epilepsy and other neurological disorders. The gene is located on the X chromosome and is expressed in various tissues, particularly in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, juvenile myoclonic | Altered calcium signaling due to EFHC2 mutations may disrupt neuronal excitability | OMIM #300817; ClinVar |
| Epilepsy, generalized | Loss-of-function variants impair calcium-binding and neuronal development | ClinVar; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 3.8 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | Rare | Alters EF-hand domain, reduces calcium binding |
| c.200G>A (p.Gly67Asp) | Missense | Rare | Impairs protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the EF-hand domain reduce calcium-binding affinity, leading to impaired neuronal signaling.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established for EFHC2.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • nervous system development (GO:0007399) |
Pathways
• Calcium signaling pathway (Reactome: R-HSA-397014)
Protein Summary
EFHC2 is a 240-amino acid protein with a single EF-hand calcium-binding domain. It is localized in the cytoplasm and is involved in calcium-dependent processes during neuronal development. The protein is expressed in brain tissues and is implicated in the regulation of neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFHC2 Knockout HEK293 Cell Line | EDJ-KQ8751 | Human | 80258 | Details Get a Quote |
| EFHC2 Knockout HeLa Cell Line | EDJ-KQ57317 | Human | 80258 | Details Get a Quote |
| EFHC2 Knockout A-549 Cell Line | EDJ-KQ65823 | Human | 80258 | Details Get a Quote |
| EFHC2 Knockout HCT 116 Cell Line | EDJ-KQ74246 | Human | 80258 | Details Get a Quote |
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