RABEP2: RAB GTPase Binding Effector Protein 2
A key regulator of endocytic trafficking and membrane fusion
Gene Information Card
| Symbol | RABEP2 |
|---|---|
| Full Name | RAB GTPase Binding Effector Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 79874 ncbi.nlm.nih.gov/gene/79874 |
| Ensembl ID | ENSG00000161981 |
| UniProt ID | Q9H5N1 |
| OMIM ID | 611000 |
| HGNC ID | 24877 |
| Aliases | RABEP2, RABEP2_HUMAN, FLJ20291, MGC138290 |
Description
RABEP2 (RAB GTPase Binding Effector Protein 2) encodes a protein that functions as an effector of Rab GTPases, specifically Rab5 and Rab4, playing a critical role in endocytic membrane trafficking. The protein is involved in early endosome fusion and recycling pathways, regulating the transport of internalized cargo. RABEP2 is widely expressed and its dysfunction may contribute to cellular trafficking defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Liver | 10.1 | Medium |
| Lung | 9.7 | Low |
| Skeletal muscle | 6.4 | Low |
| Testis | 18.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cells |
| K562 | 8.7 | Leukemia cell line |
| MCF7 | 9.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • intracellular protein transport (GO:0006886) |
| • endosomal transport (GO:0016197) | • endocytic recycling (GO:0032456) |
| • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Endocytosis (Reactome: R-HSA-199991)
• Membrane Trafficking (Reactome: R-HSA-199991)
Protein Summary
RABEP2 is a 499-amino acid protein that contains a RUN domain and a C-terminal coiled-coil region. It interacts with Rab5 and Rab4 GTPases to facilitate early endosome fusion and recycling. The protein is localized to the cytoplasm and perinuclear endosomes, and its expression is detected in multiple tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RABEP2 Knockout HEK293 Cell Line | EDJ-KQ3518 | Human | 79874 | Details Get a Quote |
| RABEP2 Knockout A-549 Cell Line | EDJ-KQ25346 | Human | 79874 | Details Get a Quote |
| RABEP2 Knockout HCT 116 Cell Line | EDJ-KQ25347 | Human | 79874 | Details Get a Quote |
| RABEP2 Knockout HeLa Cell Line | EDJ-KQ25348 | Human | 79874 | Details Get a Quote |
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