EHD3: EH Domain Containing 3
A key regulator of endocytic recycling and membrane trafficking
Gene Information Card
| Symbol | EHD3 |
|---|---|
| Full Name | EH domain containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 30845 ncbi.nlm.nih.gov/gene/30845 |
| Ensembl ID | ENSG00000144381 |
| UniProt ID | Q9H4M9 |
| OMIM ID | 606504 |
| HGNC ID | 3244 |
| Aliases | PAST3 |
Description
EHD3 (EH domain containing 3) 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 the endosomal compartment and functions in endocytic recycling, regulating the trafficking of receptors such as the transferrin receptor and the beta2-adrenergic receptor. EHD3 is involved in membrane tubulation and vesicle formation, and its expression is enriched in the brain and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Altered endocytic recycling of cardiac ion channels and receptors may contribute to impaired cardiac function. | OMIM 606504; NCBI Gene |
| Neurodegenerative disorders | Dysregulation of EHD3-mediated trafficking may affect neuronal receptor recycling and synaptic function. | NCBI Gene; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Kidney | 8.1 | Medium |
| Liver | 3.4 | Low |
| Lung | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| SH-SY5Y | 11.8 | Neuronal cell line |
| HepG2 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis (GO:0006897) | • intracellular protein transport (GO:0006886) |
| • endocytic recycling (GO:0032456) | • phosphatidylinositol-4 (GO:0005546) |
| • protein binding (GO:0005515) |
Pathways
• Endocytic recycling (Reactome: R-HSA-432722)
• Clathrin-mediated endocytosis (Reactome: R-HSA-199991)
Protein Summary
EHD3 is a 534-amino acid protein (molecular weight ~60 kDa) that contains an EF-hand domain at the N-terminus and an EH domain at the C-terminus. It forms homo-oligomers and hetero-oligomers with other EHD family members. The protein binds to phosphatidylinositol 4,5-bisphosphate and localizes to recycling endosomes, where it promotes membrane tubulation and fission. EHD3 is essential for efficient recycling of internalized receptors back to the plasma membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EHD3 Knockout HEK293 Cell Line | EDJ-KQ9190 | Human | 30845 | Details Get a Quote |
| EHD3 Knockout A-549 Cell Line | EDJ-KQ35747 | Human | 30845 | Details Get a Quote |
| EHD3 Knockout HeLa Cell Line | EDJ-KQ56157 | Human | 30845 | Details Get a Quote |
| EHD3 Knockout HCT 116 Cell Line | EDJ-KQ73094 | Human | 30845 | Details Get a Quote |
