Entity Details
| Primary name |
ELMO2_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96JJ3 |
| EntryName | ELMO2_HUMAN |
| FullName | Engulfment and cell motility protein 2 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 720 |
| SequenceStatus | complete |
| DateCreated | 2003-05-16 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Membrane |
Domains
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| Domain | Name | Category | Type |
| IPR001849 | Pleckstrin homology domain | Domain | Domain |
| IPR006816 | ELMO domain | Domain | Domain |
| IPR011989 | Armadillo-like helical | Family | Homologous superfamily |
| IPR011993 | PH-like domain superfamily | Family | Homologous superfamily |
| IPR016024 | Armadillo-type fold | Family | Homologous superfamily |
| IPR024574 | Domain of unknown function DUF3361 | Domain | Domain |
| IPR030713 | Engulfment and cell motility protein 2 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 606893 | OMIM | Vascular malformation, primary intraosseous (VMOS) | A rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions