ELMOD2
ELMO Domain Containing 2
Gene Information Card
| Symbol | ELMOD2 |
|---|---|
| Full Name | ELMO Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q31.1 |
| NCBI Gene ID | 255520 ncbi.nlm.nih.gov/gene/255520 |
| Ensembl ID | ENSG00000151465 |
| UniProt ID | Q8IZ81 |
| OMIM ID | 611874 |
| HGNC ID | 26251 |
| Aliases | FLJ22662, MGC131891 |
Description
ELMOD2 (ELMO Domain Containing 2) is a protein-coding gene located on chromosome 4q31.1. It encodes a member of the ELMO (Engulfment and Cell Motility) protein family, which is involved in cytoskeletal rearrangement and phagocytosis. ELMOD2 is thought to function as a GTPase-activating protein (GAP) for Arf-like small GTPases, regulating membrane trafficking and cell migration. The gene is expressed in multiple tissues, with notable levels in the lung and immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Pulmonary Fibrosis (IPF) | ELMOD2 expression is reduced in lung tissue of IPF patients, potentially impairing macrophage function and wound healing. | PMID: 16862166; NCBI Gene |
| Lung Cancer | Altered ELMOD2 expression may contribute to tumor progression via dysregulated cell motility. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Whole Blood | 8.9 | Low |
| Liver | 6.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 15.3 | High expression |
| HEK293 (Embryonic kidney) | 9.8 | Moderate expression |
| K562 (Leukemia) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown functional impact; rare in population databases |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Arf GTPase binding |
| • Cytoplasm | • Cell projection |
| • Phagocytic cup |
Pathways
• Arf GTPase cycle
• Phagocytosis
• Cell migration
Protein Summary
ELMOD2 is a 293-amino acid protein containing an ELMO domain. It functions as a GTPase-activating protein (GAP) for Arf-like small GTPases, particularly ARL2, regulating membrane dynamics and cytoskeletal organization. The protein is localized to the cytoplasm and cell projections, and is involved in phagocytosis and cell motility. Its expression is highest in lung and spleen tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELMOD2 Knockout HEK293 Cell Line | EDJ-KQ11803 | Human | 255520 | Details Get a Quote |
| ELMOD2 Knockout A-549 Cell Line | EDJ-KQ40218 | Human | 255520 | Details Get a Quote |
| ELMOD2 Knockout HCT 116 Cell Line | EDJ-KQ40219 | Human | 255520 | Details Get a Quote |
| ELMOD2 Knockout HeLa Cell Line | EDJ-KQ40220 | Human | 255520 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
