ELMO2 Gene - Engulfment and Cell Motility 2
ELMO2: A Key Regulator of Phagocytosis and Cell Migration
Gene Information Card
| Symbol | ELMO2 |
|---|---|
| Full Name | Engulfment and Cell Motility 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 63916 ncbi.nlm.nih.gov/gene/63916 |
| Ensembl ID | ENSG00000101210 |
| UniProt ID | Q96HH3 |
| OMIM ID | 606421 |
| HGNC ID | 17286 |
| Aliases | CED-12, ELMO-2, CED12A, ELMO2A |
Description
ELMO2 (Engulfment and Cell Motility 2) is a protein-coding gene that encodes a member of the ELMO protein family. The encoded protein interacts with DOCK1 to form a bipartite guanine nucleotide exchange factor (GEF) for RAC1, regulating cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell migration. ELMO2 is involved in developmental processes and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ELMO2 overexpression or mutation may alter RAC1 signaling, promoting cell migration and invasion. | COSMIC; PMID: 23481259 |
| Primary pulmonary hypertension | ELMO2 variants may contribute to vascular remodeling via altered cell motility. | ClinVar; PMID: 23915372 |
| Immunodeficiency | Defects in ELMO2-mediated phagocytosis can impair clearance of apoptotic cells. | OMIM; PMID: 12447383 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Spleen | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| A549 | 8.9 | Lung cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cell line |
| K562 | 6.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Unknown functional effect; reported in ClinVar |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.01% | Predicted loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | May alter protein stability |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the ELMO2 protein, impairing its GEF activity and phagocytosis.
Gain of Function (GOF)
Missense mutations that enhance ELMO2-DOCK1 interaction, leading to increased RAC1 signaling and cell motility.
Dominant Negative (DN)
Mutations that produce a truncated ELMO2 capable of binding DOCK1 but unable to activate RAC1, blocking normal function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAC1 GTPase cycle (Reactome: R-HSA-9012999)
• Phagocytosis (Reactome: R-HSA-2029480)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
ELMO2 is a 727-amino acid protein that contains a PH domain and a proline-rich region. It forms a complex with DOCK1 to act as a GEF for RAC1, promoting GTP-GDP exchange. ELMO2 is localized in the cytoplasm and at the plasma membrane, where it regulates actin dynamics during cell migration and phagocytosis. Post-translational modifications include phosphorylation, which modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELMO2 Knockout HEK293 Cell Line | EDJ-KQ13274 | Human | 63916 | Details Get a Quote |
| ELMO2 Knockout A-549 Cell Line | EDJ-KQ42689 | Human | 63916 | Details Get a Quote |
| ELMO2 Knockout HCT 116 Cell Line | EDJ-KQ42690 | Human | 63916 | Details Get a Quote |
| ELMO2 Knockout HeLa Cell Line | EDJ-KQ42691 | Human | 63916 | Details Get a Quote |
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