Entity Details

Primary name ELMO2
Entity type gene
Source Source Link

Details

PrimaryID63916
RefseqGeneNG_053169
SymbolELMO2
Nameengulfment and cell motility 2
Chromosome20
Location20q13.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsELMO2_HUMAN

GO terms

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GOName
GO:0005829 cytosol
GO:0006915 apoptotic process
GO:0007015 actin filament organization
GO:0016020 membrane
GO:0017124 SH3 domain binding
GO:0030971 receptor tyrosine kinase binding
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048870 cell motility
GO:0060326 cell chemotaxis
GO:0098609 cell-cell adhesion

Diseases

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Disease IDSourceNameDescription
606893 OMIMVascular 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.