ELMO2 (engulfment and cell motility 2)

2017-08-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
CED-12,CED12,Ced-12A,ELMO-2,VMPI
FUSION GENES

Other Information

Locus ID:

NCBI: 63916
MIM: 606421
HGNC: 17233
Ensembl: ENSG00000062598

Variants:

dbSNP: 63916
ClinVar: 63916
TCGA: ENSG00000062598
COSMIC: ELMO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000062598ENST00000290246Q96JJ3
ENSG00000062598ENST00000352077Q5JVZ5
ENSG00000062598ENST00000372176Q96JJ3
ENSG00000062598ENST00000396391Q96JJ3
ENSG00000062598ENST00000425546Q5JVZ8
ENSG00000062598ENST00000450812Q5JVZ4
ENSG00000062598ENST00000452857Q5JW01
ENSG00000062598ENST00000467800H0YCM7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
ShigellosisKEGGhsa05131
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by PTK6REACTOMER-HSA-8848021
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinasesREACTOMER-HSA-8849471

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
253322382015Axl phosphorylates Elmo scaffold proteins to promote Rac activation and cell invasion.32
231849442013ELMO recruits actin cross-linking family 7 (ACF7) at the cell membrane for microtubule capture and stabilization of cellular protrusions.17
186029832008Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1.16
275396612016Involvement of Tiam1, RhoG and ELMO2/ILK in Rac1-mediated phagocytosis in human trabecular meshwork cells.8
225689842012Emerging role of ILK and ELMO2 in the integration of adhesion and migration pathways.6
274766572016Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.2
272266252016Elmo2 Is a Regulator of Insulin-dependent Glut4 Membrane Translocation.1
306047752019Structure of BAI1/ELMO2 complex reveals an action mechanism of adhesion GPCRs via ELMO family scaffolds.1

Citation

Dessen P

ELMO2 (engulfment and cell motility 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56909/elmo2