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FLASH GENE

Symbol

ELMO2

contributors: mct - updated : 08-02-2014

HGNC name	engulfment and cell motility 2
HGNC id	17233

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	VMOS vascular malformation intraosseous, primary
Location	20q13.12      Physical location : 44.994.689 - 45.035.271
Synonym name	engulfment and cell motility 2 (ced-12 homolog, C. elegans)
	PH domain protein CED12A
	ced-12 homolog 2
Synonym symbol(s)	KIAA1834, CED12, CED-12, ELMO-2, FLJ11656

DNA

TYPE	functioning gene
STRUCTURE	40.58 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_133171 22 - 3683 NP_573403 79 720 - 2001 11595183 NM_182764 21 - 3596 NP_877496 79 720 - 2001 11595183 3'utr short

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       highly Reproductive male system testis     highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to C.elegans
	ortholog to Drosophila Ced12

intraspecies	paralog to ELMO1
	paralog to ELMO3

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	upstream regulator of RAC1 required for engulfment of dying cells and for cell migration
	may function in phagocytosis of apoptotic cells and in cell migration
	role of ILK and ELMO2 in the integration of adhesion and migration pathways
	role for ELMO1, ELMO2, ELMO3 in protrusion stability by acting at the interface between the actin cytoskeleton and the microtubule network
	exogenous expression of ELMO2 or RHOG stabilizes microtubules, but only if ILK is also present
	recruited to the plasma membrane and involved in the signaling cascade that controls cytoskeleton dynamics and cell migration
	necessity of ELMO2 for maintaining vascular integrity, specifically in intramembranous bones

CELLULAR PROCESS	cell life, cell death/apoptosis
	cell organization/biogenesis
	cell communication

PHYSIOLOGICAL PROCESS

text	cytoskeletal rearrangements during phagocytosis and cell motility in the late steps of the apoptotic process (complementation group 2 in C elegans)

PATHWAY

metabolism

signaling

signal transduction

a component

probably part of a complex with DOCK1 and CRK isoform CRK-II

INTERACTION

DNA

RNA

small molecule

protein	interacts with the dedicator of cyto-kinesis 1 protein
	interacts with the SH3-domain of DOCK1 via its SH3- binding site
	interaction with ILK (interaction with ELMO2 and RHOG is essential for the ability of ILK to induce front-rear cell polarity)
	EGF-induction of front-rear polarity and migration in keratinocytes is mediated by integrin-linked kinase and ELMO2
	ILK-binding protein in epidermal keratinocytes
	role for ELMO2 in the recruitment of MACF1 to the membrane to promote microtubule capture and stability
	MACF1 interacts with ELMO2 and ELMO3
	ELMO2 scaffolds to be direct substrates and binding partners of AXL

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

VMOS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS