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Tbio Engulfment and cell motility protein 2

Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in assocation with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.

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]

 Comments

Property Summary

NCBI Gene PubMed Count 22
PubMed Score 8.39
PubTator Score 4.38

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
ovarian cancer 8492 5.00525047378451E-7
atypical teratoid / rhabdoid tumor 4369 6.14674706238804E-5
medulloblastoma, large-cell 6234 5.38520731008404E-4
Pick disease 1893 6.24065933112439E-4
oligodendroglioma 2849 0.0016857211657969
subependymal giant cell astrocytoma 2287 0.00261167064921956
ependymoma 2514 0.00572426500755673
astrocytic glioma 2241 0.0101800183140978
group 4 medulloblastoma 1875 0.0112167651155809
esophageal adenocarcinoma 737 0.0195207517873976
Disease Target Count Z-score Confidence
Epidermolysis bullosa dystrophica 6 3.387 1.7

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma 1.100 0.010
ependymoma 1.100 0.006
oligodendroglioma 1.100 0.002
esophageal adenocarcinoma -1.100 0.020
atypical teratoid / rhabdoid tumor -1.400 0.000
medulloblastoma, large-cell -1.600 0.001
group 4 medulloblastoma 1.200 0.011
subependymal giant cell astrocytoma -2.438 0.003
Pick disease -1.100 0.001
ovarian cancer 2.200 0.000

Synonym

Accession Q96JJ3 E1P5T3 Q5JVZ6 Q7Z5G9 Q96CJ2 Q96ME5 Q96PA9 Q9H938 Q9H9L5 Q9HAH0 Q9NQQ6
Symbols VMPI
CED12
CED-12
ELMO-2
Ced-12A

Gene

ELMO2

PANTHER Protein Class (1)

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Chicken OMA Inparanoid
Xenopus OMA Inparanoid

 GO Function (1)

 GO Component (3)

 GO Process (6)

 Compartment GO Term (9)

 HCA RNA Cell Line (56)

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Pathway (15)

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 UniProt Keyword (10)

Gene RIF (4)

PMID Text
25332238 Axl has a role in phosphorylating the Elmo scaffold proteins to promote Rac activation and cell invasion
23184944 uncovered a role for ELMO in the recruitment of ACF7 to the membrane to promote microtubule capture and stability
22568984 Through its association with ELMO2, ILK plays key roles in the regulation of Rho GTPases and cross-talk pathways between adhesion and growth factor receptors.
18602983 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence 

MPPPSDIVKVAIEWPGANAQLLEIDQKRPLASIIKEVCDGWSLPNPEYYTLRYADGPQLYITEQTRSDIK      1 - 70
NGTILQLAISPSRAARQLMERTQSSNMETRLDAMKELAKLSADVTFATEFINMDGIIVLTRLVESGTKLL     71 - 140
SHYSEMLAFTLTAFLELMDHGIVSWDMVSITFIKQIAGYVSQPMVDVSILQRSLAILESMVLNSQSLYQK    141 - 210
IAEEITVGQLISHLQVSNQEIQTYAIALINALFLKAPEDKRQDMANAFAQKHLRSIILNHVIRGNRPIKT    211 - 280
EMAHQLYVLQVLTFNLLEERMMTKMDPNDQAQRDIIFELRRIAFDAESDPSNAPGSGTEKRKAMYTKDYK    281 - 350
MLGFTNHINPAMDFTQTPPGMLALDNMLYLAKVHQDTYIRIVLENSSREDKHECPFGRSAIELTKMLCEI    351 - 420
LQVGELPNEGRNDYHPMFFTHDRAFEELFGICIQLLNKTWKEMRATAEDFNKVMQVVREQITRALPSKPN    421 - 490
SLDQFKSKLRSLSYSEILRLRQSERMSQDDFQSPPIVELREKIQPEILELIKQQRLNRLCEGSSFRKIGN    491 - 560
RRRQERFWYCRLALNHKVLHYGDLDDNPQGEVTFESLQEKIPVADIKAIVTGKDCPHMKEKSALKQNKEV    561 - 630
LELAFSILYDPDETLNFIAPNKYEYCIWIDGLSALLGKDMSSELTKSDLDTLLSMEMKLRLLDLENIQIP    631 - 700
EAPPPIPKEPSSYDFVYHYG                                                      701 - 720
//

Text Mined References (24)

PMID Year Title
25332238 2015 Axl phosphorylates Elmo scaffold proteins to promote Rac activation and cell invasion.
24567399 2014 G-protein coupled receptor BAI3 promotes myoblast fusion in vertebrates.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23184944 2013 ELMO recruits actin cross-linking family 7 (ACF7) at the cell membrane for microtubule capture and stabilization of cellular protrusions.
22568984 Emerging role of ILK and ELMO2 in the integration of adhesion and migration pathways.
21269460 2011 Initial characterization of the human central proteome.
20679435 2010 Ephexin4 and EphA2 mediate cell migration through a RhoG-dependent mechanism.
18602983 2008 Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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