ELMOD3 Gene: Function, Disease Associations, and Expression
Comprehensive guide to ELMOD3 (ELMO Domain Containing 3), including genomic context, protein function, expression, and clinical relevance.
Gene Information Card
| Symbol | ELMOD3 |
|---|---|
| Full Name | ELMO domain containing 3 |
| Gene Type | protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 84173 ncbi.nlm.nih.gov/gene/84173 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q8N8P2 |
| OMIM ID | 611245 |
| HGNC ID | 26268 |
| Aliases | FLJ22624, MGC131944 |
Description
ELMOD3 (ELMO domain containing 3) is a protein-coding gene located on chromosome 2p11.2. It encodes a member of the ELMO domain-containing protein family, which is involved in GTPase activation and cytoskeletal dynamics. ELMOD3 is broadly expressed in various tissues and has been implicated in cellular processes such as vesicle trafficking and cell migration. Mutations in ELMOD3 have been associated with autosomal recessive hearing loss (DFNB88).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB88) | Pathogenic variants in ELMOD3 cause hearing loss; the protein is expressed in hair cells and is involved in actin cytoskeleton regulation, affecting stereocilia function. | ClinVar, OMIM (611245) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.7 | Low |
| Brain | 7.9 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.5 | Cervical cancer cell line |
| A549 | 7.2 | Lung carcinoma |
| HepG2 | 6.8 | Hepatocellular carcinoma |
| MCF7 | 5.9 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Ter) | Nonsense | Rare | Loss of function; associated with DFNB88 |
| c.512G>A (p.Arg171His) | Missense | Rare | Likely pathogenic; affects protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons are associated with autosomal recessive hearing loss, indicating loss-of-function mechanism.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ELMOD3.
Dominant Negative (DN)
No evidence for dominant-negative effects; inheritance is recessive.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Protein binding |
| • Cytoplasm | • Cytoskeleton |
| • Cell projection | • Regulation of GTPase activity |
Pathways
• GTPase signaling
• Cytoskeletal regulation
Protein Summary
The ELMOD3 protein contains an ELMO domain and a GTPase-activating protein (GAP) domain. It is localized in the cytoplasm and associates with the cytoskeleton. ELMOD3 acts as a GTPase activator for ARF family proteins, regulating vesicle trafficking and actin dynamics. In the inner ear, it is essential for the maintenance of stereocilia, and its dysfunction leads to hearing loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELMOD3 Knockout HEK293 Cell Line | EDJ-KQ10002 | Human | 84173 | Details Get a Quote |
| ELMOD3 Knockout A-549 Cell Line | EDJ-KQ36970 | Human | 84173 | Details Get a Quote |
| ELMOD3 Knockout HCT 116 Cell Line | EDJ-KQ36971 | Human | 84173 | Details Get a Quote |
| ELMOD3 Knockout HeLa Cell Line | EDJ-KQ36972 | Human | 84173 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
