MAPRE2: Microtubule-Associated Protein RP/EB Family Member 2
A key regulator of microtubule dynamics and cell polarity, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | MAPRE2 |
|---|---|
| Full Name | Microtubule Associated Protein RP/EB Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 10982 ncbi.nlm.nih.gov/gene/10982 |
| Ensembl ID | ENSG00000101474 |
| UniProt ID | Q15555 |
| OMIM ID | 605789 |
| HGNC ID | 6891 |
| Aliases | EB2, RP1 |
Description
MAPRE2 (Microtubule Associated Protein RP/EB Family Member 2) encodes a member of the RP/EB family of microtubule-associated proteins. This protein binds to the plus ends of microtubules and regulates microtubule dynamics, cell polarity, and chromosome segregation. It is involved in cell migration, division, and intracellular transport. Mutations in MAPRE2 are associated with colorectal cancer and congenital anomalies such as microcephaly and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | MAPRE2 mutations may alter microtubule dynamics, promoting genomic instability and tumorigenesis. | COSMIC, ClinVar |
| Congenital anomalies (e.g., microcephaly, intellectual disability) | Loss-of-function mutations disrupt microtubule function during neurodevelopment. | OMIM, ClinVar |
| Breast cancer | Altered expression of MAPRE2 has been observed, potentially affecting cell polarity and migration. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 15.2 | Medium |
| Breast | 10.1 | Low |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| HCT116 | 22.3 | Colorectal cancer cell line |
| MCF7 | 14.7 | Breast cancer cell line |
| HEK293 | 16.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.1% | Alters microtubule binding |
| c.487_489del (p.Lys163del) | Deletion | <0.1% | In-frame deletion, disrupts protein function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable protein, e.g., nonsense or frameshift variants, are classified as loss-of-function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in MAPRE2.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with microtubule plus-end tracking.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (GO:0008017) | • microtubule (GO:0005874) |
| • actin filament binding (GO:0051015) | • centrosome (GO:0005813) |
| • microtubule cytoskeleton organization (GO:0000226) |
Pathways
• Microtubule dynamics (Reactome: R-HSA-983231)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
The MAPRE2 protein (EB2) is a 327-amino acid microtubule plus-end tracking protein (+TIP). It contains an N-terminal calponin homology (CH) domain that binds microtubules and a C-terminal EB homology domain that mediates dimerization and interaction with other +TIPs. EB2 regulates microtubule growth, stability, and interactions with cellular structures, playing roles in cell polarity, migration, and division.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAPRE2 Knockout HEK293 Cell Line | EDJ-KQ7234 | Human | 10982 | Details Get a Quote |
| MAPRE2 Knockout A-549 Cell Line | EDJ-KQ32212 | Human | 10982 | Details Get a Quote |
| MAPRE2 Knockout HCT 116 Cell Line | EDJ-KQ32213 | Human | 10982 | Details Get a Quote |
| MAPRE2 Knockout HeLa Cell Line | EDJ-KQ30834 | Human | 10982 | Details Get a Quote |
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