ELMO2 - engulfment and cell motility 2 Gene

Also Known as VMPI; CED12; CED-12; ELMO-2; Ced-12A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 63916

About ELMO2

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:46,366,050-46,406,615 (from NCBI)

This gene has 18 transcripts (splice variants), 204 orthologues, 5 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 20.6), testis (RPKM 16.7) and 25 other tissues.

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 multiple transcript variants. [provided by RefSeq, Dec 2015]

ELMO2 Products (3)

mRNA Protein Name
NM_001318253.2 NP_001305182.1 engulfment and cell motility protein 2 isoform b
NM_133171.5 NP_573403.1 engulfment and cell motility protein 2 isoform a
NM_182764.3 NP_877496.1 engulfment and cell motility protein 2 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20679435 GOA
enables receptor tyrosine kinase binding IPI
IPI: Inferred from physical interaction
20679435 GOA
Biological Process GO Annotation Evidence References Source
involved in cell chemotaxis IMP
IMP: Inferred from mutant phenotype
20679435 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
20679435 GOA
located in membrane IDA
IDA: Inferred from direct assay
20679435 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ELMO2 Protein Structure

DUF3361

DUF3361: Domain of unknown function (DUF3361) (114 - 273)

ELMO_CED12

ELMO_CED12: ELMO/CED-12 family (293 - 475)

  • 0
  • 200
  • 400
  • 600
  • 720 a.a.
Protein Preferred Names Protein Names

engulfment and cell motility protein 2

  • PH domain protein CED12A

Related Diseases

Diseases Alias
Vascular Malformation, Primary Intraosseous

  • Primary Intraosseous Venous Malformation

  • Vascular Malformation Osseous

  • VMOS

  • Hemangioma, Intraosseous

  • VMPI

  • Intraosseous Hemangioma

  • Osseous Venous Malformation

  • Intraosseous Haemangiomas
Ramon Syndrome

  • Cherubism, Gingival Fibromatosis, Epilepsy, Mental Deficiency, Hypertrichosis, And Stunted Growth

  • Gingival Fibromatosis Combined With Cherubism

  • Cherubism-Gingival Fibromatosis-Intellectual Disability Syndrome
Recessive Dystrophic Epidermolysis Bullosa

  • Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

  • Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

  • Rdeb, Hallopeau-Siemens Type

  • Severe Generalized Rdeb

  • Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

  • Rdeb Generalisata Gravis

  • Rdeb, Severe Generalized

  • Rdeb-Sev Gen

  • Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

  • Hallopeau-Siemens Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-183635 ELMO2-IN-1 Inducer / Unkown
HY-RS04312 ELMO2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus ELMO2 VGNC VGNC:28439
Canis familiaris ELMO2 VGNC VGNC:40310
Mus musculus ELMO2 MGD MGI:2153045
Felis catus ELMO2 VGNC VGNC:61816
Rattus norvegicus ELMO2 RGD RGD:1305784
Macaca mulatta ELMO2 VGNC VGNC:72059
Others ELMO2 NCBI