ELMO2 - engulfment and cell motility 2 Gene

Homo sapiens

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

Gene ID: 63916 | Gene type: protein coding

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

ELMO2 Protein Structure

DUF3361

ELMO_CED12

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04312	ELMO2 Human Pre-designed siRNA Set A		/	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

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