EHD2 Gene - EH Domain Containing 2
Key regulator of endocytosis, membrane trafficking, and cancer cell invasion
Gene Information Card
| Symbol | EHD2 |
|---|---|
| Full Name | EH Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 30846 ncbi.nlm.nih.gov/gene/30846 |
| Ensembl ID | ENSG00000124491 |
| UniProt ID | Q9NZN4 |
| OMIM ID | 605892 |
| HGNC ID | 3243 |
| Aliases | PAST2, PAST2A, HCA56 |
Description
EHD2 (EH Domain Containing 2) encodes a member of the EHD protein family that contains an N-terminal EF-hand domain and a C-terminal EH domain. The protein localizes to caveolae and regulates endocytic recycling, membrane trafficking, and cell migration. EHD2 is involved in caveolae dynamics, actin cytoskeleton organization, and has been implicated in cancer progression, particularly in breast and lung cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | EHD2 overexpression promotes cell migration and invasion via caveolae-mediated signaling | PMID: 23431177 |
| Lung cancer | EHD2 downregulation correlates with poor prognosis and increased metastatic potential | PMID: 25636874 |
| Ovarian cancer | EHD2 expression is associated with tumor grade and patient survival | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Breast | 8.3 | Medium |
| Lung | 6.1 | Low |
| Heart | 4.2 | Low |
| Skeletal muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| A549 (lung cancer) | 7.8 | Medium expression |
| HeLa (cervical cancer) | 9.1 | Medium expression |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | 0.0002 | Unknown functional effect |
| c.487G>A (p.Gly163Arg) | Missense | 0.0001 | Reported in ClinVar as uncertain significance |
| c.1129_1130del (p.Leu377fs) | Frameshift | <0.0001 | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu377fs) are predicted to cause loss of EHD2 protein function, potentially impairing caveolae-mediated endocytosis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EHD2 in the literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EHD2.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis (GO:0006897) | • caveola (GO:0005901) |
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • endocytic recycling (GO:0032456) |
Pathways
• Endocytosis (Reactome: R-HSA-199991)
• Caveola-mediated endocytosis (Reactome: R-HSA-199992)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
EHD2 is a 543-amino acid protein that contains an N-terminal EF-hand calcium-binding domain and a C-terminal EH domain. It localizes to caveolae and functions as a regulator of caveolae dynamics, endocytic recycling, and actin cytoskeleton remodeling. EHD2 interacts with caveolin-1 and dynamin, influencing cell migration and invasion. Altered expression is observed in several cancers, where it may act as either a tumor suppressor or oncogene depending on context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EHD2 Knockout HEK293 Cell Line | EDJ-KQ9187 | Human | 30846 | Details Get a Quote |
| EHD2 Knockout HCT 116 Cell Line | EDJ-KQ34502 | Human | 30846 | Details Get a Quote |
| EHD2 Knockout A-549 Cell Line | EDJ-KQ35740 | Human | 30846 | Details Get a Quote |
| EHD2 Knockout HeLa Cell Line | EDJ-KQ35742 | Human | 30846 | Details Get a Quote |
