EFHD2: EF-Hand Domain Family Member D2
A calcium-binding protein implicated in neuronal signaling and cancer progression
Gene Information Card
| Symbol | EFHD2 |
|---|---|
| Full Name | EF-Hand Domain Family Member D2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.21 |
| NCBI Gene ID | 79180 ncbi.nlm.nih.gov/gene/79180 |
| Ensembl ID | ENSG00000142634 |
| UniProt ID | Q96C19 |
| OMIM ID | 616457 |
| HGNC ID | 28670 |
| Aliases | Swiprosin-1, EFHD2, Swiprosin-1 |
Description
EFHD2 (EF-Hand Domain Family Member D2), also known as Swiprosin-1, is a protein-coding gene located on chromosome 1p36.21. It encodes a calcium-binding protein containing two EF-hand domains. EFHD2 is involved in calcium signaling, cytoskeletal dynamics, and immune cell activation. It is highly expressed in the brain and immune tissues and has been linked to neuronal function, synaptic plasticity, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | EFHD2 overexpression promotes cell migration and invasion via calcium-dependent signaling pathways. | COSMIC; PMID: 23454898 |
| Colorectal cancer | Upregulation of EFHD2 correlates with poor prognosis and enhanced metastatic potential. | COSMIC; PMID: 25652263 |
| Alzheimer's disease | EFHD2 interacts with tau protein and may modulate tau aggregation and neurodegeneration. | UniProt; PMID: 24105744 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Lymph node | 12.8 | High |
| Spleen | 11.5 | High |
| Lung | 4.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | Neuronal model |
| MCF7 (breast cancer) | 22.3 | Overexpressed in cancer |
| HEK293 (embryonic kidney) | 6.7 | Basal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.01% | Unknown functional impact |
| c.455C>T (p.Pro152Leu) | Missense | 0.005% | Reported in COSMIC; potential loss of calcium binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • EF-hand domain binding |
| • cytoskeleton organization | • cell migration |
| • signal transduction |
Pathways
• Calcium signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
EFHD2 encodes a 240-amino acid protein with two EF-hand calcium-binding domains. It localizes to the cytoplasm and cell membrane, where it regulates calcium-dependent signaling, actin cytoskeleton remodeling, and cell adhesion. The protein is highly expressed in the brain and immune cells, and its dysregulation is associated with cancer metastasis and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFHD2 Knockout HEK293 Cell Line | EDJ-KQ13266 | Human | 79180 | Details Get a Quote |
| EFHD2 Knockout A-549 Cell Line | EDJ-KQ42669 | Human | 79180 | Details Get a Quote |
| EFHD2 Knockout HCT 116 Cell Line | EDJ-KQ42670 | Human | 79180 | Details Get a Quote |
| EFHD2 Knockout HeLa Cell Line | EDJ-KQ42671 | Human | 79180 | Details Get a Quote |
