Human Gene ELMO2 (uc002xrs.1)
  Description: Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.
RefSeq Summary (NM_182764): 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].
Transcript (Including UTRs)
   Position: hg19 chr20:44,994,690-45,011,132 Size: 16,443 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr20:44,995,999-45,008,939 Size: 12,941 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:44,994,690-45,011,132)mRNA (may differ from genome)Protein (467 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ELMO2_HUMAN
DESCRIPTION: RecName: Full=Engulfment and cell motility protein 2; AltName: Full=Protein ced-12 homolog A; Short=hCed-12A;
FUNCTION: 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.
SUBUNIT: Interacts with the SH3-domain of DOCK1 via its SH3- binding site. Probably part of a complex with DOCK1 and RAC1. Probably part of a complex with DOCK1 and CRK isoform CRK-II. Interacts with ARHGEF16, DOCK4 and EPHA2; mediates activation of RAC1 by EPHA2.
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytosol. Membrane.
TISSUE SPECIFICITY: Widely expressed, with a higher expression in skeletal muscle, kidney and placenta.
SIMILARITY: Contains 1 ELMO domain.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=BAB13879.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14210.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14405.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB47463.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ELMO2
CDC HuGE Published Literature: ELMO2

-  MalaCards Disease Associations
  MalaCards Gene Search: ELMO2
Diseases sorted by gene-association score: vascular malformation, primary intraosseous* (1269), vascular malformation (27), hemophagocytic lymphohistiocytosis, familial, 2 (12), hemophagocytic lymphohistiocytosis, familial, 1 (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.11 RPKM in Brain - Cerebellum
Total median expression: 596.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -671.992193-0.306 Picture PostScript Text
3' UTR -432.821309-0.331 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR024574 - DUF3361
IPR006816 - Engulfment_cell_motility_ELMO
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR001906 - Terpene_synth-like

Pfam Domains:
PF04727 - ELMO/CED-12 family
PF16457 - Pleckstrin homology domain

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q96JJ3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0030971 receptor tyrosine kinase binding

Biological Process:
GO:0006909 phagocytosis
GO:0006915 apoptotic process
GO:0007010 cytoskeleton organization
GO:0016477 cell migration
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0060326 cell chemotaxis
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF206022 - JP 2014500723-A/13525: Polycomb-Associated Non-Coding RNAs.
AK092796 - Homo sapiens cDNA FLJ35477 fis, clone SMINT2007792.
AX747735 - Sequence 1260 from Patent EP1308459.
AF417861 - Homo sapiens PH domain protein CED12A (CED12A) mRNA, complete cds.
AL833406 - Homo sapiens mRNA; cDNA DKFZp313M0920 (from clone DKFZp313M0920).
BC036483 - Homo sapiens engulfment and cell motility 2, mRNA (cDNA clone IMAGE:5260847), with apparent retained intron.
BC000143 - Homo sapiens engulfment and cell motility 2, mRNA (cDNA clone MGC:5247 IMAGE:3047992), complete cds.
BX648819 - Homo sapiens mRNA; cDNA DKFZp313M1020 (from clone DKFZp313M1020).
AK022731 - Homo sapiens cDNA FLJ12669 fis, clone NT2RM4002294.
AK023103 - Homo sapiens cDNA FLJ13041 fis, clone NT2RP3001297.
JD287056 - Sequence 268080 from Patent EP1572962.
BC021079 - Homo sapiens engulfment and cell motility 2, mRNA (cDNA clone IMAGE:3542477).
AB058737 - Homo sapiens KIAA1834 mRNA for KIAA1834 protein.
AL713765 - Homo sapiens mRNA; cDNA DKFZp761J1417 (from clone DKFZp761J1417).
AK021718 - Homo sapiens cDNA FLJ11656 fis, clone HEMBA1004560.
JD072969 - Sequence 53993 from Patent EP1572962.
JD317417 - Sequence 298441 from Patent EP1572962.
JD187053 - Sequence 168077 from Patent EP1572962.
JD064163 - Sequence 45187 from Patent EP1572962.
JD361186 - Sequence 342210 from Patent EP1572962.
JD235002 - Sequence 216026 from Patent EP1572962.
JD109686 - Sequence 90710 from Patent EP1572962.
JD177546 - Sequence 158570 from Patent EP1572962.
JD163414 - Sequence 144438 from Patent EP1572962.
JD497426 - Sequence 478450 from Patent EP1572962.
LF350626 - JP 2014500723-A/158129: Polycomb-Associated Non-Coding RNAs.
JD418485 - Sequence 399509 from Patent EP1572962.
JD519749 - Sequence 500773 from Patent EP1572962.
JD535275 - Sequence 516299 from Patent EP1572962.
JD199973 - Sequence 180997 from Patent EP1572962.
JD395210 - Sequence 376234 from Patent EP1572962.
JD444571 - Sequence 425595 from Patent EP1572962.
LF350627 - JP 2014500723-A/158130: Polycomb-Associated Non-Coding RNAs.
JD184355 - Sequence 165379 from Patent EP1572962.
JD402418 - Sequence 383442 from Patent EP1572962.
JD167543 - Sequence 148567 from Patent EP1572962.
JD423820 - Sequence 404844 from Patent EP1572962.
JD036837 - Sequence 17861 from Patent EP1572962.
JD140779 - Sequence 121803 from Patent EP1572962.
JD200025 - Sequence 181049 from Patent EP1572962.
JD491545 - Sequence 472569 from Patent EP1572962.
JD398922 - Sequence 379946 from Patent EP1572962.
JD315597 - Sequence 296621 from Patent EP1572962.
JD465067 - Sequence 446091 from Patent EP1572962.
JD273556 - Sequence 254580 from Patent EP1572962.
JD449180 - Sequence 430204 from Patent EP1572962.
JD039057 - Sequence 20081 from Patent EP1572962.
JD071810 - Sequence 52834 from Patent EP1572962.
JD143781 - Sequence 124805 from Patent EP1572962.
JD252977 - Sequence 234001 from Patent EP1572962.
JD134166 - Sequence 115190 from Patent EP1572962.
JD271945 - Sequence 252969 from Patent EP1572962.
AK299318 - Homo sapiens cDNA FLJ60834 complete cds, highly similar to Engulfment and cell motility protein 2 (CED-12 homolog A).
JD078021 - Sequence 59045 from Patent EP1572962.
AK293861 - Homo sapiens cDNA FLJ56059 complete cds, highly similar to Engulfment and cell motility protein 2.
JD262279 - Sequence 243303 from Patent EP1572962.
JD322114 - Sequence 303138 from Patent EP1572962.
JD269838 - Sequence 250862 from Patent EP1572962.
AK302710 - Homo sapiens cDNA FLJ56422 complete cds, highly similar to Engulfment and cell motility protein 2.
JD565321 - Sequence 546345 from Patent EP1572962.
AF398886 - Homo sapiens ELMO2 precursor RNA, complete cds.
AB463026 - Synthetic construct DNA, clone: pF1KB8413, Homo sapiens ELMO2 gene for engulfment and cell motility 2, without stop codon, in Flexi system.
AM393730 - Synthetic construct Homo sapiens clone IMAGE:100002194 for hypothetical protein (ELMO2 gene).
BC014207 - Homo sapiens engulfment and cell motility 2, mRNA (cDNA clone IMAGE:4640063), with apparent retained intron.
AK057032 - Homo sapiens cDNA FLJ32470 fis, clone SKNMC2000305.
LF350631 - JP 2014500723-A/158134: Polycomb-Associated Non-Coding RNAs.
MA586203 - JP 2018138019-A/158129: Polycomb-Associated Non-Coding RNAs.
MA586204 - JP 2018138019-A/158130: Polycomb-Associated Non-Coding RNAs.
MA586208 - JP 2018138019-A/158134: Polycomb-Associated Non-Coding RNAs.
MA441599 - JP 2018138019-A/13525: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96JJ3 (Reactome details) participates in the following event(s):

R-HSA-2197697 Recruitment of CRKII:DOCK180:ELMO complex to FCGR
R-HSA-8848611 Phosphorylated PXN recruits the CRK complex
R-HSA-5218811 DOCK180:ELMO binds CRK
R-HSA-2029467 Activation of RAC1 by CRKII:DOCK180:ELMO
R-HSA-5218839 DOCK180:ELMO exchanges GTP for GDP, activating RAC1
R-HSA-8848618 Activation of RAC1 by the PXN:CRK complex
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-8849471 PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-8848021 Signaling by PTK6
R-HSA-194138 Signaling by VEGF
R-HSA-168249 Innate Immune System
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: BC036483, CED12A, E1P5T3, ELMO2_HUMAN, KIAA1834, NM_182764, NP_877496, Q5JVZ6, Q96CJ2, Q96JJ3, Q96ME5, Q96PA9, Q9H938, Q9H9L5, Q9HAH0, Q9NQQ6
UCSC ID: uc002xrs.1
RefSeq Accession: NM_182764
Protein: Q96JJ3 (aka ELMO2_HUMAN or ELM2_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC036483.1
exon count: 12CDS single in 3' UTR: no RNA size: 3880
ORF size: 1404CDS single in intron: no Alignment % ID: 99.90
txCdsPredict score: 1999.00frame shift in genome: no % Coverage: 99.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 2190# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.