ELMO2 Chromosome 20
Engulfment and cell motility 2
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What This Gene Does
The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Engulfment and cell motility proteins
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000062598
Associated Conditions (1)
Primary intraosseous venous malformation
Key Variants
RS1372506599
Likely pathogenic
Primary intraosseous venous malformation, Primary intraosseous venous malformation
Health Risk
RS1568748859
Likely pathogenic
Primary intraosseous venous malformation, Primary intraosseous venous malformation
Health Risk
RS886037918
Likely pathogenic
Primary intraosseous venous malformation, Primary intraosseous venous malformation
Health Risk
RS2145827538
Pathogenic
Primary intraosseous venous malformation, Primary intraosseous venous malformation
Health Risk
RS768410753
Pathogenic
Primary intraosseous venous malformation, Primary intraosseous venous malformation, Primary intraosseous venous malformation
Health Risk
RS886037919
Pathogenic
Primary intraosseous venous malformation, Primary intraosseous venous malformation
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1372506599 | Health Risk | Likely pathogenic | Primary intraosseous venous malformation, Primary intraosseous venous malformation |
| RS1568748859 | Health Risk | Likely pathogenic | Primary intraosseous venous malformation, Primary intraosseous venous malformation |
| RS886037918 | Health Risk | Likely pathogenic | Primary intraosseous venous malformation, Primary intraosseous venous malformation |
| RS2145827538 | Health Risk | Pathogenic | Primary intraosseous venous malformation, Primary intraosseous venous malformation |
| RS768410753 | Health Risk | Pathogenic | Primary intraosseous venous malformation, Primary intraosseous venous malformation, Primary intraosseous venous malformation |
| RS886037919 | Health Risk | Pathogenic | Primary intraosseous venous malformation, Primary intraosseous venous malformation |