Gene Gene information from NCBI Gene database.
Entrez ID 63916
Gene name Engulfment and cell motility 2
Gene symbol ELMO2
Synonyms (NCBI Gene)
CED-12CED12Ced-12AELMO-2VMPI
Chromosome 20
Chromosome location 20q13.12
Summary 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 m
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs768410753 C>T Pathogenic Splice donor variant
rs886037918 C>G Pathogenic Splice acceptor variant
rs886037919 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
296
miRTarBase ID miRNA Experiments Reference
MIRT016514 hsa-miR-193b-3p Microarray 20304954
MIRT016635 hsa-miR-429 Reporter assay 20005803
MIRT020346 hsa-miR-200a-3p Reporter assay 20005803
MIRT021068 hsa-miR-200c-3p Reporter assay 20005803
MIRT021653 hsa-miR-141-3p Reporter assay 20005803
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20679435, 24567399, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 20679435
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606421 17233 ENSG00000062598
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JJ3
Protein name Engulfment and cell motility protein 2 (Protein ced-12 homolog A) (hCed-12A)
Protein function Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May en
PDB 6IDX , 6IE1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11841 DUF3361 115 272 Domain of unknown function (DUF3361) Family
PF04727 ELMO_CED12 295 474 ELMO/CED-12 family Family
PF16457 PH_12 541 667 Pleckstrin homology domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with a higher expression in skeletal muscle, kidney and placenta. {ECO:0000269|PubMed:11595183}.
Sequence
Sequence length 720
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Bacterial invasion of epithelial cells
Shigellosis
Salmonella infection
Yersinia infection
  Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
20
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Primary intraosseous venous malformation Likely pathogenic; Pathogenic rs1372506599, rs2145827538, rs768410753, rs886037918, rs886037919, rs1568748859 RCV002244261
RCV002251070
RCV002283824
RCV000240813
RCV000240827
RCV000240837
RCV000761502
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ELMO2-related disorder Likely benign; Benign rs376165468, rs185950263, rs370004074, rs147152999, rs41310805 RCV003909241
RCV003949154
RCV003934609
RCV003913117
RCV003973182
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25332238
Diabetes Mellitus Type 2 Associate 18602983
Esophageal Neoplasms Inhibit 32164040
Esophageal Squamous Cell Carcinoma Inhibit 32164040
Glioblastoma Associate 30108175
Kidney Failure Chronic Associate 18602983
Neoplasms Associate 29495584, 30108175
Neoplasms Inhibit 32164040
Ramon Syndrome Associate 39201553